MedWorm: Neurology

Coiling for very small aneurysms ‘feasible and effective’

MedWire News - Stroke — Sat, 21 Nov 2009 14:35:14 +0100

Endovascular treatment of very small intracranial aneurysms is feasible and effective in more than 90% of cases, a meta-analysis of seven published studies suggests. (Source: MedWire News - Stroke)

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Prevalence of prothrombotic polymorphisms in a selected cohort of cryptogenic and noncryptogenic ischemic stroke patients

Neurology India — Sat, 21 Nov 2009 14:34:36 +0100

In this study population under 55 years of age there was no significant difference in the prevalence of various genetic polymorphisms, factor V, prothrombin, 5,10-methylenetetrahydrofolate reductase, plasminogen activator inhibitor-1, and human platelet alloantigens) in patients with cryptogenic ischemic stroke and in patients with ischemic stroke of determined cause. (Source: Neurology India)

Drug Studied As Possible Treatment For Spinal Injuries

Multiple Sclerosis News From Medical News Today — Sat, 21 Nov 2009 08:00:00 +0100

Researchers have shown how an experimental drug might restore the function of nerves damaged in spinal cord injuries by preventing short circuits caused when tiny "potassium channels" in the fibers are exposed. The chemical compound also might be developed as a treatment for multiple sclerosis. (Source: Multiple Sclerosis News From Medical News Today)

Editor's choice.

Practical Neurology — Sat, 21 Nov 2009 02:32:32 +0100

Authors: Warlow C PMID: 19923109 [PubMed - as supplied by publisher] (Source: Practical Neurology)

What next for medical journals?

Practical Neurology — Sat, 21 Nov 2009 02:32:30 +0100

Authors: Godlee F PMID: 19923110 [PubMed - as supplied by publisher] (Source: Practical Neurology)

Diagnosis and management of the limb girdle muscular dystrophies.

Practical Neurology — Sat, 21 Nov 2009 02:32:27 +0100

Authors: Bushby K Making the diagnosis of a particular type of limb girdle muscular dystrophy (LGMD) can appear challenging. In fact, various clues from the way the patient presents, and the results of simple investigations such as creatine kinase levels, can be extremely helpful in sorting out the various disease entities within this group of patients. The results of more specialised testing of the muscle biopsy and DNA sequencing offer the prospect of a clear answer in around 75% of cases. As more is understood about the clinical features of the different types of LGMD, targeted management is increasingly possible, especially focusing on those patients at high risk of cardiac and respiratory complications. PMID: 19923111 [PubMed - as supplied by publisher] (Source: Practical Neur...

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Assess and interpret the visual fields at the bedside.

Practical Neurology — Sat, 21 Nov 2009 02:32:24 +0100

Authors: Cooper SA, Metcalfe RA Understanding and applying a bedside visual field assessment is an important skill for the neurologist. By appreciating some basic anatomical and physiological principles it is possible to target the examination appropriately, thus gaining important diagnostic information with the minimum of fuss. Specific patterns of visual loss are caused by damage at various sites within the visual pathway. This review focuses on techniques that can be used at the bedside to identify common visual field defects and cites examples by dividing the visual system into its component parts. We urge the use of an appropriately sized red pin and berate the well worn "waggling finger" technique. PMID: 19923112 [PubMed - as supplied by publisher] (Source: Practical Neurolog...

The borderland of neuromyelitis optica.

Practical Neurology — Sat, 21 Nov 2009 02:32:22 +0100

We describe two cases of optic neuritis-only NMO, and explore the current understanding of the diagnosis and spectrum of NMO disorders. PMID: 19923113 [PubMed - as supplied by publisher] (Source: Practical Neurology)

It's all in the history (a continuing story).

Practical Neurology — Sat, 21 Nov 2009 02:32:19 +0100

Authors: Morrish P PMID: 19923114 [PubMed - as supplied by publisher] (Source: Practical Neurology)

When a clear crystal makes a case crystal clear.

Practical Neurology — Sat, 21 Nov 2009 02:32:17 +0100

Authors: Bena R, Züger M, Pung T, Gallus E, Weisshaupt C, Krause M PMID: 19923115 [PubMed - as supplied by publisher] (Source: Practical Neurology)

Neuropoppycockology.

Practical Neurology — Sat, 21 Nov 2009 02:32:14 +0100

Authors: Hawkes CH PMID: 19923116 [PubMed - as supplied by publisher] (Source: Practical Neurology)

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From pseudotumour cerebri to idiopathic intracranial hypertension.

Practical Neurology — Sat, 21 Nov 2009 02:32:12 +0100

Authors: Pearce JM PMID: 19923117 [PubMed - as supplied by publisher] (Source: Practical Neurology)

Traveller's headache.

Practical Neurology — Sat, 21 Nov 2009 02:32:10 +0100

Authors: Knight B, Cader S, Awad M, Sabin I, Gawler J PMID: 19923118 [PubMed - as supplied by publisher] (Source: Practical Neurology)

Brazil.

Practical Neurology — Sat, 21 Nov 2009 02:32:07 +0100

Authors: de Oliveira JR PMID: 19923119 [PubMed - as supplied by publisher] (Source: Practical Neurology)

Myasthenia gravis and other neuromuscular junction disorders.

Practical Neurology — Sat, 21 Nov 2009 02:32:05 +0100

Authors: Jacob S, Viegas S, Lashley D, Hilton-Jones D PMID: 19923120 [PubMed - as supplied by publisher] (Source: Practical Neurology)

[Changes in cerebral perfusion induced by etomidate in patients with temporal lobe epilepsy.]

Revista de Neurologia — Sat, 21 Nov 2009 02:18:40 +0100

CONCLUSIONS. Activation by etomidate induces a specific and repetitive response in the bioelectrical activity. In addition, cerebral perfusion changes directly related to the epileptogenic region may serve therefore as a diagnostic tool in the near future. PMID: 19921619 [PubMed - as supplied by publisher] (Source: Revista de Neurologia)

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[Interpretation of proverbs and Alzheimer's disease.]

Revista de Neurologia — Sat, 21 Nov 2009 02:18:38 +0100

CONCLUSIONS. The results help to further our knowledge of the characteristics of performance of patients with AD in a test involving the interpretation of the implicit meaning of proverbs and also provide information about the processes that may be predominantly affected. Further research is needed, however, on this subject area in order to obtain more conclusive explanations. PMID: 19921620 [PubMed - as supplied by publisher] (Source: Revista de Neurologia)

[Clinical and therapeutic heterogeneity of cerebral venous thrombosis: a description of a series of 20 cases.]

Revista de Neurologia — Sat, 21 Nov 2009 02:18:35 +0100

CONCLUSIONS. We report a great variety of etiologies and patterns of presentation of CVT. CVT should be suspected in patients with subacute headache, even in outpatients. Nonacute presentation with isolated headache or intracranial hypertension could have better prognosis, requiring a less aggressive therapy. PMID: 19921621 [PubMed - as supplied by publisher] (Source: Revista de Neurologia)

[Spanish version of the Autonomic Symptom Profile test.]

Revista de Neurologia — Sat, 21 Nov 2009 02:18:32 +0100

CONCLUSIONS. The Spanish version of the ASP is reliable and makes it possible to distinguish between patients with autonomic dysfunction and control subjects. As far as we are aware, this is the first test to evaluate the symptoms of the autonomic nervous system in a global manner and in Spanish. PMID: 19921622 [PubMed - as supplied by publisher] (Source: Revista de Neurologia)

[A prospective, open, controlled and randomised study of clobazam versus carbamazepine in patients with frequent episodes of rolandic epilepsy.]

Revista de Neurologia — Sat, 21 Nov 2009 02:18:30 +0100

CONCLUSIONS. CBZ is an effective drug in rolandic epilepsy, but it may be associated with exacerbation of seizures as well as with cognitive-behavioural impairment. CLB in monotherapy seems to be an effective and better tolerated drug in this kind of epilepsy. PMID: 19921623 [PubMed - as supplied by publisher] (Source: Revista de Neurologia)

[Cognitive models in attention deficit hyperactivity disorder.]

Revista de Neurologia — Sat, 21 Nov 2009 02:18:27 +0100

CONCLUSIONS. Advances in genetics and in neurological functioning are offering very valuable data that will undoubtedly help to shape the cognitive model or models underlying ADHD. Lastly, a greater understanding of the effects of pharmacological agents is also needed. Apart from improving the symptoms, the pharmacological agents employed also have an effect on cognitive mechanisms. In line with this assumption, very promising research is being carried out on the indication of methylphenidate in dyslexia and autism that are comorbid with ADHD. PMID: 19921624 [PubMed - as supplied by publisher] (Source: Revista de Neurologia)

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[The current state of the art concerning quality of life in Parkinson's disease: I. Instruments, comparative studies and treatments.]

Revista de Neurologia — Sat, 21 Nov 2009 02:18:25 +0100

CONCLUSIONS. Despite the significant progress being made in this field, further studies with a rigorous methodology and longitudinal data are needed. PMID: 19921625 [PubMed - as supplied by publisher] (Source: Revista de Neurologia)

[Radiologically isolated syndrome.]

Revista de Neurologia — Sat, 21 Nov 2009 02:18:22 +0100

Authors: Sempere AP, Lopez-Celada S, Berenguer-Ruiz L, Giner-Bernabeu JC, Hernandez-Rubio L PMID: 19921626 [PubMed - as supplied by publisher] (Source: Revista de Neurologia)

[XXXIV Reunion Anual de la Sociedad Espanola de Neurologia Pediatrica. III Reunion Iberica de Neuropediatria. Communications (II).]

Revista de Neurologia — Sat, 21 Nov 2009 02:18:20 +0100

Authors: PMID: 19921627 [PubMed - as supplied by publisher] (Source: Revista de Neurologia)

[Seasonal birth patterns in multiple sclerosis.]

Revista de Neurologia — Sat, 21 Nov 2009 02:18:17 +0100

Authors: Guerrero-Peral AL, Iglesias F, Gutierrez-Martin F, Martin-Polo J, Merino-Hernando S, Martin-Serradilla JI, Tejero MA PMID: 19921628 [PubMed - as supplied by publisher] (Source: Revista de Neurologia)

[Treatment of drooling with botulinum toxin type A in cerebral palsy.]

Revista de Neurologia — Sat, 21 Nov 2009 02:18:15 +0100

Authors: Duarte CS, Alves TR, Azeredo PM, Almeida SI PMID: 19921629 [PubMed - as supplied by publisher] (Source: Revista de Neurologia)

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[Fast progressive development of marked hypotonia.]

Revista de Neurologia — Sat, 21 Nov 2009 02:18:13 +0100

Authors: Rute-Ferreira A, Marta R, Rocha S, Didelet C, Goncalves-Rodrigues E PMID: 19921630 [PubMed - as supplied by publisher] (Source: Revista de Neurologia)

[Early differential diagnosis of dysautonomia in Parkinson's disease by means of cardiac scintigraphy with 123I-MIBG.]

Revista de Neurologia — Sat, 21 Nov 2009 02:18:10 +0100

Authors: Perez-Saldana MT, Perez-Velasco R, Burguera JA PMID: 19921631 [PubMed - as supplied by publisher] (Source: Revista de Neurologia)

[Fibromuscular dysplasia associated with cardiac fibroelastoma and blepharophimosis.]

Revista de Neurologia — Sat, 21 Nov 2009 02:18:08 +0100

Authors: Jimenez-Caballero PE, Servia M, Marsal-Alonso C PMID: 19921632 [PubMed - as supplied by publisher] (Source: Revista de Neurologia)

[The value of ultrasound imaging of the substantia nigra in the differential diagnosis of Parkinson's disease.]

Revista de Neurologia — Sat, 21 Nov 2009 02:18:05 +0100

Authors: Arjona A PMID: 19921633 [PubMed - as supplied by publisher] (Source: Revista de Neurologia)

Activation of PERK kinase in neural cells by proteasome inhibitor treatment

Journal of Neurochemistry — Sat, 21 Nov 2009 00:00:00 +0100

Inhibition of the proteasome proteolytic pathway occurs as the result of normal aging, as well as in a variety of neurodegenerative conditions, and is believed to promote cellular toxicity in each of these conditions through diverse mechanisms. In the present study, we examined whether proteasome inhibition alters the protein kinase receptor-like endoplasmic reticulum kinase (PERK). Our studies demonstrate that proteasome inhibitors induce the transient activation of PERK in both primary rat neurons as well as the N2a neural cell line. Experiments with siRNA to PERK demonstrated that the modulation of PERK was not significant involved in regulating toxicity, ubiquitinated protein levels, or ribosome perturbations in response to proteasome inhibitor treatment. Surprisingly, PERK was observe...

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WMS News

Neuromuscular Disorders — Fri, 20 Nov 2009 14:37:28 +0100

(Source: Neuromuscular Disorders)

WMS online application form

Neuromuscular Disorders — Fri, 20 Nov 2009 14:37:28 +0100

(Source: Neuromuscular Disorders)

Wms 2010

Neuromuscular Disorders — Fri, 20 Nov 2009 14:37:28 +0100

(Source: Neuromuscular Disorders)

3rd Annual Dysferlin Conference 2–5 June 2009, Boston, Massachusetts, USA

Neuromuscular Disorders — Fri, 20 Nov 2009 14:37:28 +0100

The 3rd Annual Dysferlin Conference, held from June 2–5, 2009 in Boston, MA, USA, brought together leading scientists and clinicians to discuss recent progress towards understanding and developing a therapy for the dysferlinopathies, Limb Girdle Muscular Dystrophy 2B (LGMD2B) and Miyoshi myopathy. These diseases involve progressive muscle wasting, typically beginning in the late teenage years, and are caused by mutations in the gene encoding dysferlin . Dysferlin is required for repair of muscle fiber membrane tears , but little is known about how this defect contributes to disease pathology or whether dysferlin is also involved in other cellular processes. The conference was sponsored and organized by the Jain Foundation, and participants included 37 invited speakers, 10 additional scie...

Patient Registries and Trial Readiness in Myotonic Dystrophy – TREAT-NMD/Marigold International Workshop Report

Neuromuscular Disorders — Fri, 20 Nov 2009 14:37:28 +0100

A workshop entitled Patient Registries and Trial Readiness in Myotonic Dystrophy, jointly sponsored by TREAT-NMD (www.treat-nmd.eu) and the Marigold Foundation (www.marigoldfoundation.org), was held from 12 to 14 June 2009 in Naarden, The Netherlands. The twenty-six participants represented eight countries and included scientists, clinicians, patient representatives and industry. The workshop built on the foundations established in two previous ENMC workshops on myotonic dystrophy and the myotonic dystrophy clinical working group set up by the Marigold Foundation, and took advantage of the tools developed within the TREAT-NMD network for patient registries and outcome measures. (Source: Neuromuscular Disorders)

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Myopathy secondary to intravascular large B-cell lymphoma

Neuromuscular Disorders — Fri, 20 Nov 2009 14:37:28 +0100

We report a case of a 78-year-old woman presenting with progressive proximal muscle weakness mainly to lower limbs and myopathic EMG associated with intravascular large B-cell lymphoma.Muscle biopsy showed myopathic changes, intravascular large B-cell lymphoma but no inflammation or fibre necrosis; the patient’s serum cross-reacted with an unidentified nuclear antigen of approximately 45kDa present in muscle and lymphoma cells.Our case illustrates a myopathy associated with intravascular large B-cell lymphoma probably mediated by antibodies cross-reacting with a nuclear protein expressed by neoplastic cells and normal muscle. The nature of this nuclear antigen remains unidentified. (Source: Neuromuscular Disorders)

Isolated inflammatory myopathy with rimmed vacuoles presenting with dropped head

Neuromuscular Disorders — Fri, 20 Nov 2009 14:37:28 +0100

We describe an unusual case of inflammatory myopathy with rimmed vacuoles associated with dropped head syndrome. Muscle biopsy in our patient revealed variations in fiber size with fiber necrosis and regeneration, accompanied by many rimmed vacuoles and areas of endomysial cell infiltration. Electron microscopy demonstrated autophagic vacuoles and tubulofilamentous inclusions. This myopathy can cause dropped head syndrome in a subgroup of patients. (Source: Neuromuscular Disorders)

Myelin protein zero Val102fs mutation manifesting with isolated spinal root hypertrophy

Neuromuscular Disorders — Fri, 20 Nov 2009 14:37:27 +0100

This report adds new data concerning the clinical presentations of MPZ mutations. (Source: Neuromuscular Disorders)

Novel Twinkle gene mutation in autosomal dominant progressive external ophthalmoplegia and multisystem failure

Neuromuscular Disorders — Fri, 20 Nov 2009 14:37:27 +0100

Abstract: A Saudi Arabian family presented with adult onset autosomal dominant progressive external ophthalmoplegia (adPEO) complicated by late onset reversible failure of the CNS, respiratory, hepatic, and endocrine systems. Clinical findings were suggestive of mitochondrial dysfunction and multiple mitochondrial DNA deletions were demonstrated on long range and real time polymerase chain reaction assays but not on Southern blotting. The disorder is caused by a novel heterozygous PEO1 mutation predicting a Leu360Gly substitution in the twinkle protein. The peculiar clinical presentation expands the variable phenotype observed in adPEO and Twinkle gene mutations. (Source: Neuromuscular Disorders)

Neuromuscular disease presentation with three genetic defects involving two genomes

Neuromuscular Disorders — Fri, 20 Nov 2009 14:37:27 +0100

We describe a patient who presented to a mitochondrial clinic with progressive bilateral ptosis, external opthalmoplegia and increasing difficulty with walking. He had previously been diagnosed with a dominant, demyelinating polyneuropathy due to PMP22 gene duplication and had also developed gout, presenting in acute renal failure, due to an X-linked recessive HPRT gene mutation. Muscle biopsy revealed many COX-deficient fibres which we show contain high levels of a third genetic defect – a novel, mitochondrial tRNALeu(CUN) (MTTL2) gene mutation. (Source: Neuromuscular Disorders)

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Late-onset MNGIE without peripheral neuropathy due to incomplete loss of thymidine phosphorylase activity

Neuromuscular Disorders — Fri, 20 Nov 2009 14:37:27 +0100

We report a woman with a very late onset of MNGIE, lacking peripheral neuropathy. Thymidine phosphorylase activity was markedly reduced in cultured fibroblasts, but only mildly reduced in buffy coat, where the defect is usually detected, and plasma thymidine was mildly increased compared to typical MNGIE patients. TYMP/ECGF1 analysis detected two heterozygous mutations, including a novel missense mutation. These findings indicate that a partial loss of thymidine phosphorylase activity may induce a late-onset and incomplete MNGIE phenotype. (Source: Neuromuscular Disorders)

Antisense oligonucleotide therapeutics for iron–sulphur cluster deficiency myopathy

Neuromuscular Disorders — Fri, 20 Nov 2009 14:37:27 +0100

Abstract: Iron–sulphur cluster deficiency myopathy is caused by a deep intronic mutation in ISCU resulting in inclusion of a cryptic exon in the mature mRNA. ISCU encodes the iron–sulphur cluster assembly protein IscU. Iron–sulphur clusters are essential for most basic redox transformations including the respiratory-chain function. Most patients are homozygous for the mutation with a phenotype characterized by a non-progressive myopathy with childhood onset of early fatigue, dyspnoea and palpitation on trivial exercise. A more severe phenotype with early onset of a slowly progressive severe muscle weakness, severe exercise intolerance and cardiomyopathy is caused by a missense mutation in compound with the intronic mutation. Treatment of cultured fibroblasts derived from three homozy...

Ephedrine therapy in eight patients with congenital myasthenic syndrome due to DOK7 mutations

Neuromuscular Disorders — Fri, 20 Nov 2009 14:37:27 +0100

Abstract: In congenital myasthenic syndrome with DOK7 mutations ephedrine was reported to be beneficial in single patients. We carried out a small, open and prospective cohort study in eight European patients manifesting from birth to 12years. Five patients showed limb-girdle and facial weakness, three a floppy infant syndrome with bulbar symptoms and/or respiratory distress. Ephedrine was started with 25mg/day and slowly increased to 75–100mg/day. Within weeks after starting therapy an improvement was observed in all patients and clinical follow-up disclosed positive effects more pronounced on proximal muscle weakness and strength using MRC scale. Effects on facial weakness were less pronounced. Vital capacity measurements and repetitive stimulation tests did not improve in the same way...

The difficulty in confirming clinical diagnosis of myasthenia gravis in a seronegative patient: A possible neurophysiological approach

Neuromuscular Disorders — Fri, 20 Nov 2009 14:37:27 +0100

We report the case of a 43-year-old patient with generalized seronegative myasthenia gravis with negative 3Hz repetitive nerve stimulation at Erb’s point and voluntary single-fibre EMG in the orbicularis oculi. We also performed 6 and 12Hz repetitive nerve stimulation at Erb and stimulated single-fibre EMG in the extensor digitorum communis and our findings were pathological. Our data suggest that, for individual patients with an atypical picture characterised by dissociation between a severe clinical pattern and no definite neurophysiological findings on conventional tests, repetitive nerve stimulation with a stimulation rate higher than 3Hz and/or stimulated single-fibre EMG with an increasing stimulation rate may be helpful. (Source: Neuromuscular Disorders)

Oestrogen receptor alpha gene intronic polymorphisms and autoimmune myasthenia gravis in Caucasian women

Neuromuscular Disorders — Fri, 20 Nov 2009 14:37:26 +0100

Abstract: Autoimmune myasthenia gravis is a disorder with a complex pathomechanism in which sex hormones, in particular oestrogen, have long been considered to play a role. Here we report the result of a case-control study which evaluated the association of two oestrogen receptor alpha gene polymorphisms with myasthenia gravis in Caucasian patients.PvuII (rs2234693) and XbaI (rs9340799) restriction fragment polymorphisms of the oestrogen receptor alpha gene were analyzed in 113 female myasthenia patients and 184 female controls. Distribution of these polymorphisms was compared with PCR-RFLP. Patients were divided into groups according to their oestrogen receptor alpha genotypes, and acetylcholine receptor antibody status and age of onset were compared between the groups.We found no signifi...

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Feasibility of foot and ankle strength training in childhood Charcot-Marie-Tooth disease

Neuromuscular Disorders — Fri, 20 Nov 2009 14:37:26 +0100

Abstract: Weakness of ankle dorsiflexion is the cardinal manifestation of CMT. We investigated if a 12-week progressive resistance dorsiflexion strengthening program was feasible, safe and beneficial in a 15-year-old girl with an axonal form of CMT. Training load was based on a dose-escalating percentage of one-repetition maximum, completed on three non-consecutive days each week. Outcomes included dynamometric foot strength, motor function and instrumented walking ability. At 12-weeks, dorsiflexion strength improved 56–72% and plantarflexion strength by 15–20%. Standing long jump increased by 16%, while balance and endurance did not. Walking ability improved for speed, cadence, step time and stride length. Compliance was high and there were no adverse events. This case suggests progre...

Autosomal recessive inheritance of classic Bethlem myopathy

Neuromuscular Disorders — Fri, 20 Nov 2009 14:37:26 +0100

We report two adult siblings with classic Bethlem myopathy who are compound heterozygous for a single nucleotide deletion (exon 23; c.1770delG), leading to in-frame skipping of exon 23 on the maternal allele, and a missense mutation p.R830W in exon 28 on the paternal allele. The parents are carriers of the respective mutations and are clinically unaffected. The exon skipping mutation in exon 23 results in a chain incapable of heterotrimeric assembly, while p.R830W likely ameliorates the phenotype into the Bethlem range. Thus, autosomal recessive inheritance can also underlie Bethlem myopathy, supporting the notion that Ullrich CMD and Bethlem myopathy are part of a common clinical and genetic spectrum. (Source: Neuromuscular Disorders)

The PedsQL™ in pediatric patients with Spinal Muscular Atrophy: Feasibility, reliability, and validity of the Pediatric Quality of Life Inventory™ Generic Core Scales and Neuromuscular Module

Neuromuscular Disorders — Fri, 20 Nov 2009 14:37:26 +0100

Abstract: For Phase II and III clinical trials in children with Spinal Muscular Atrophy (SMA), reliable and valid outcome measures are necessary. Since 2000, the American Spinal Muscular Atrophy Randomized Trials (AmSMART) group has established reliability and validity for measures of strength, lung function, and motor function in the population from age 2years to 18years. The PedsQL™ (Pediatric Quality of Life Inventory™) Measurement Model was designed to integrate the relative merits of generic and disease-specific approaches, with disease-specific modules. The PedsQL™ 3.0 Neuromuscular Module was designed to measure HRQOL dimensions specific to children ages 2–18years with neuromuscular disorders, including SMA. One hundred seventy-six children with SMA and their parents complet...

Editorial Board

Neuromuscular Disorders — Fri, 20 Nov 2009 14:37:26 +0100

(Source: Neuromuscular Disorders)

Instructions to Contributors

Pediatric Neurology — Fri, 20 Nov 2009 14:37:10 +0100

(Source: Pediatric Neurology)

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Pediatric Neurology — Fri, 20 Nov 2009 14:37:10 +0100

(Source: Pediatric Neurology)

Subject Index

Pediatric Neurology — Fri, 20 Nov 2009 14:37:10 +0100

(Source: Pediatric Neurology)

Author Index

Pediatric Neurology — Fri, 20 Nov 2009 14:37:10 +0100

(Source: Pediatric Neurology)

Calendar

Pediatric Neurology — Fri, 20 Nov 2009 14:37:10 +0100

(Source: Pediatric Neurology)

Autism: Current Theories and Evidence

Pediatric Neurology — Fri, 20 Nov 2009 14:37:10 +0100

Parents of children with autistic spectrum disorders are frustrated by the healthcare professional's inability to tell them what caused their child's disease, and are desperate to find a “cure” that will allow their children to live independently, to have friends, and to communicate effectively. Too often, these parents are willing to pay thousands of dollars for unproven “therapies” that offer no evidence in support of their use, and that may even be dangerous. (Source: Pediatric Neurology)

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Diseases of the Nervous System in Childhood

Pediatric Neurology — Fri, 20 Nov 2009 14:37:10 +0100

The third edition of this fine textbook continues the high standards set by the first two editions of 1992 and 1998. Significant new information about neurologic disorders affecting children has been discovered in the 11 years since the second edition. The third edition provides the reader with this new material in the same concise, complete, and informative manner as before. What has changed in this edition is the role of Professor Aicardi, who had previously been sole editor of, and contributor to, the vast majority of chapters. Here he is assisted by Dr. Martin Bax and Professor Christopher Gillberg. Additional authors contributed to some chapters, but most were written by Professor Aicardi, alone or in collaboration. Despite these changes, the concise, thorough style of previous editio...

Response

Pediatric Neurology — Fri, 20 Nov 2009 14:37:10 +0100

Infection with rotavirus, a common pathogen for gastroenteritis in children, is occasionally associated with central nervous system involvement, manifesting from benign afebrile convulsion to lethal encephalopathy or encephalitis . We appreciate that Kato et al. have presented an additional case of rotavirus infection associated with transient splenial lesion of corpus callosum. Although the case we recently reported and their case exhibited different central nervous system manifestations, both cases share a similar change on the splenium of the corpus callosum during rotavirus infection, and both patients recovered within a few days without major complications . (Source: Pediatric Neurology)

A Transient Lesion in the Corpus Callosum During Rotavirus Infection

Pediatric Neurology — Fri, 20 Nov 2009 14:37:10 +0100

To the Editor: Fukuda et al. recently reported a case with a transient lesion in the corpus callosum during rotavirus infection. We have just encountered a similar case, and our review suggests the need to reevaluate the spectrum of central nervous system involvement in rotavirus infections. (Source: Pediatric Neurology)

Novel de novo Mutation in the KCNJ2 Gene in a Patient With Andersen-Tawil Syndrome

Pediatric Neurology — Fri, 20 Nov 2009 14:37:10 +0100

Andersen-Tawil syndrome is a rare autosomal-dominant disease characterized by episodic muscle weakness, cardiac arrhythmias, and dysmorphic features. Mutations in the KCNJ2 gene (which encodes an inward-rectifying potassium channel protein, Kir2.1) have been reported to be responsible for this disorder. Reported here is a novel de novo mutation in the KCNJ2 gene in a patient with Andersen-Tawil syndrome. This mutation predicts the substitution of alanine for glycine at position 146 (Gly146Ala, c.437G > C) of Kir2.1 and is located at the extracellular pore loop region that serves as a principal ion-selective filter. The patient did not respond to acetazolamide, but experienced an improvement of the paralytic symptoms on treatment with a combination of spironolactone, amiloride, and potassi...

Vincristine-Induced Unilateral Ptosis in a Child

Pediatric Neurology — Fri, 20 Nov 2009 14:37:10 +0100

Vincristine is a vinca alkaloid used in combination with other agents in the treatment of solid tumors, lymphoma, and leukemia, as well as for idiopathic thrombocytopenic purpura and autoimmune hemolytic anemia. A dose-limiting complication of vinca alkaloids is neurotoxicity. Vincristine is the oldest and also the most neurotoxic agent in this group. Described here is the case of a 4-year-old girl with unilateral palpebral ptosis. She has been diagnosed with precursor B-cell acute lymphoblastic leukemia. Ptosis was noted on the 45th day of therapy, and the last vincristine was administered on the 28th day of protocol 1. Vincristine-induced unilateral palpebral ptosis is a novel finding. Experience with this case suggests conservative treatment, with periodic examination, especially if pto...

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Secondary Tics or Tourettism Associated With a Brain Tumor

Pediatric Neurology — Fri, 20 Nov 2009 14:37:09 +0100

Tourette syndrome is generally considered to be a genetic disorder, but symptoms mimicking Tourette syndrome can be secondary to an underlying lesion disrupting the basal ganglia circuitry. Described here is a case of secondary tics, or tourettism, in a child with a large oligodendroglioma of the right temporal lobe extending to the basal ganglia. He presented with attention-deficit hyperactivity disorder, obsessive-compulsive disorder, and stimulant-induced tic disorder at the age of 11 years, and later also had also seizures. The family history was unremarkable. Cranial magnetic resonance imaging disclosed a right temporal lobe tumor extending to the basal ganglia. An α-[11C]methyl-l-tryptophan positron emission tomography scan showed asymmetric uptake in the basal ganglia and intense u...

Primary Intracranial Extra-Axial and Supratentorial Atypical Rhabdoid Tumor

Pediatric Neurology — Fri, 20 Nov 2009 14:37:09 +0100

We report on magnetic resonance imaging findings of a 22-month-old boy with a biopsy-proven primary rhabdoid tumor, presenting as a single intracranial supratentorial extra-axial mass. Based on the patient's age and imaging features (perfusion, diffusion magnetic resonance imaging, and magnetic resonance spectroscopy), a diagnosis of atypical teratoid/rhabdoid tumor was more accurate than diagnoses of meningioma and primitive neuroectodermal tumor. Although this entity is relatively rare, it should be considered in the differential diagnosis of dural-based, space-occupying central nervous system lesions. (Source: Pediatric Neurology)

Isolated Ptosis as Acute Ophthalmoplegia Without Ataxia, Positive for Anti-GQ1b Immunoglobulin G

Pediatric Neurology — Fri, 20 Nov 2009 14:37:09 +0100

Anti-GQ1b IgG antibody syndrome comprises a wide range of diseases presenting with ophthalmoplegia and ataxia. Anti-GQ1b antibodies have been strongly associated in the literature with Miller Fisher Syndrome, with acute ophthalmoplegia associated with Guillain-Barré syndrome, and with isolated ophthalmoplegia. Acute ophthalmoplegia presents as various combinations of external and internal ophthalmoplegia. Reported here is a novel case of isolated ptosis as a manifestation of ophthalmoplegia. The present finding of bilateral ptosis and areflexia with anti-GQ1b IgG antibody positivity helps confirm the existence of the syndrome. Further research is needed on diagnosis and treatment. (Source: Pediatric Neurology)

Cerebrospinal Fluid Neopterin and Cryopyrin-Associated Periodic Syndrome

Pediatric Neurology — Fri, 20 Nov 2009 14:37:09 +0100

Cryopyrin-associated periodic syndrome is a category of autoinflammatory disorders caused by mutations of the NLRP3 gene, with chronic infantile neurologic cutaneous and articular syndrome being the severest clinical phenotype. Various pterins have been reported as mediating immunologic functions in the central nervous system, but to date studies of pterin cerebrospinal fluid (CSF) values and cryopyrin-associated periodic syndrome have been lacking. A 2-year-old child was affected with a severe atypical form of cryopyrin-associated periodic syndrome, suspected based on the analysis of neopterin in CSF. He initially presented isolated neurologic manifestations mimicking a neuroregressive disorder. Blood and CSF analyses did not present any routine inflammatory markers, but CSF neopterin was...

Giant Cystic Lesion in Neurofibromatosis

Pediatric Neurology — Fri, 20 Nov 2009 14:37:09 +0100

In the case of an asymptomatic 10-year-old girl with neurofibromatosis type 1, a concomitant cystic brain lesion was demonstrated on cranial magnetic resonance imaging. The nature of these cysts is unknown: they may represent cellular degeneration of the lesions imaged as unidentified bright objects, cystic cortical dysplasia, or giant Virchow-Robin spaces. The novel finding in this child of coexisting unusual cystic lesion and neurofibromatosis could be coincidental; however, recent report of an asymptomatic cystic lesion in two patients with neurofibromatosis suggests otherwise. (Source: Pediatric Neurology)

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Age-Dependent Spike Localization in Various Epileptic Syndromes

Pediatric Neurology — Fri, 20 Nov 2009 14:37:09 +0100

The electroencephalograms from 276 patients with localization-related epilepsy were analyzed to compare the distribution of spike foci in different age groups. Patients were divided into five groups according to spike location in the frontal, central, temporal, occipital, or multiple cortical regions. The age of peak incidence was earliest in patients with occipital foci, followed by those with central foci and then those with frontal foci. A bimodal age distribution of patients with temporal foci was observed. Symptomatic patients frequently exhibited multiple and frontal foci, and a large number of idiopathic patients had central, temporal, and occipital foci. Multiple foci were detected in 27.5% of idiopathic patients. Age-related spike localization was uniformly observed, regardless of...

Metabolic Alterations During Valproic Acid Treatment: A Prospective Study

Pediatric Neurology — Fri, 20 Nov 2009 14:37:09 +0100

We prospectively examined the effects of valproic acid on the endocrine system and metabolic variables in epileptic children. Patients with newly diagnosed idiopathic epilepsy were included in the study. Laboratory and clinical variables were assessed before and after 6 and 12 months of treatment. In total, 30 patients (mean age, 8.6 ± 4.4 years S.D.) were investigated. Body mass index and body mass index standard deviation scores of patients increased significantly during treatment. Although there was no statistical significance regarding fasting glucose, serum insulin, triglyceride, and high-density lipoprotein cholesterol levels and the insulin resistance index, a statistically significant increase in total and low-density lipoprotein cholesterol levels had occurred after 12 months of ...

Childhood Absence Epilepsy in Patients With Benign Focal Epileptiform Discharges

Pediatric Neurology — Fri, 20 Nov 2009 14:37:09 +0100

Few reports are available of ictal recordings in patients with benign focal epileptiform discharges. The study objective was to estimate the frequency of such recordings and to describe their clinical and electrophysiologic presentation. We performed a retrospective chart review of all patients undergoing routine electroencephalography (EEG) with video during a 10-year period. Among 214 patients with benign focal epileptiform discharges, 5 patients were identified with recorded EEG seizures (2.3%). Epilepsy syndromes included one case of benign focal epilepsy of childhood, three cases of childhood absence epilepsy, and in one case the patient presented with both. Only 1 of the 214 patients (0.4%) had a seizure characteristic of benign focal epilepsy of childhood. A literature review reveal...

CD40 Ligand Deficiency: Neurologic Sequelae With Radiographic Correlation

Pediatric Neurology — Fri, 20 Nov 2009 14:37:09 +0100

Patients with CD40 ligand deficiency are susceptible to central nervous system infections, but to date the neurologic progression or long-term outcome of central nervous system complications have not been reported in detail. Characterizing the central nervous system complications of immune deficiencies can lead to the identification of new pathogens. For this study, clinical data were reviewed on patients with both CD40 ligand deficiency and neurodegeneration, identified from a larger cohort of 31 patients. Five patients had progressive neurologic and cognitive decline in the absence of clinical signs of acute fulminant encephalitis, with anatomic brain abnormalities and high mortality (60%). Despite multiple evaluations, no pathogens were identified in four patients, all of whom were on s...

Analysis of Convulsive Status Epilepticus in Children of Taiwan

Pediatric Neurology — Fri, 20 Nov 2009 14:37:09 +0100

Convulsive status epilepticus is a medical emergency with significantly associated mortality and morbidity. The demographic data and outcomes of convulsive status epilepticus in children were collected for descriptive analysis. We retrospectively reviewed cases of convulsive status epilepticus in the Pediatric Intensive Care Unit of Chang Gung Children's Hospital between 1999 and 2006. We enrolled 141 patients with 198 episodes of convulsive status epilepticus, aged 2 months to 18 years: 24.8% of first episodes developed convulsive status epilepticus, with a duration of over 60 minutes. First episodes of convulsive status epilepticus were most often evidenced in febrile status during acute central nerve system infections (48.2%), and in nonfebrile status during acute noncentral nerve syste...

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Diffusion-Weighted Imaging Predicts Cognition in Pediatric Brain Injury

Pediatric Neurology — Fri, 20 Nov 2009 14:37:08 +0100

In this study, pooled regional and total brain diffusion coefficients were used to predict long-term outcomes in 17 pediatric brain injury patients. Apparent diffusion coefficient values were grouped into peripheral and deep gray and white matter, posterior fossa, and total brain. Regions of interest excluded areas that appeared abnormal on T2-weighted images. Apparent diffusion coefficient values from peripheral regions were inversely correlated with cognitive functioning. No significant correlations were apparent between the cognitive scores and apparent diffusion coefficient values for deep tissue or the posterior fossa. Regression analyses suggested that combined peripheral gray and white matter apparent diffusion coefficients explained 42% of the variance in the combined neurocogniti...

The Spectrum of Abnormal Neurologic Outcomes Subsequent to Term Intrapartum Asphyxia

Pediatric Neurology — Fri, 20 Nov 2009 14:37:08 +0100

The purpose of this study was to describe the spectrum of possible abnormal neurologic outcomes in term infants with intrapartum asphyxia and to identify those clinical factors associated with the later occurrence of cerebral palsy. All children with term intrapartum asphyxia encountered in a single pediatric neurologic practice with at least 2 years of follow-up and an abnormal neurologic outcome were identified. Abnormal outcomes were grouped into those with or without cerebral palsy. A total of 40 children (28 male, 12 female) met study criteria. Of these, 23 developed cerebral palsy; the remaining 17 children developed an abnormal neurologic outcome that did not include cerebral palsy. A more severe grade of neonatal encephalopathy, a higher number of neonatal seizures, the neonatal u...

Chromosomal Microarray Interpretation: What Is a Child Neurologist to Do?

Pediatric Neurology — Fri, 20 Nov 2009 14:37:08 +0100

The chromosomal microarray now plays a central role in the evaluation of children with neurologic developmental disorders, including global developmental delay, mental retardation, and increasingly also autistic spectrum disorders. As arrays become more sophisticated and their use more widespread, the child neurologist is likely to encounter abnormal chromosomal microarray results. The interpretation of such data is not always straightforward. This review article discusses in a practical manner the nature of chromosomal microarray results, describes an algorithm to help the child neurologist navigate a variety of testing scenarios, and proposes a standardized system for ranking array data based on levels of evidence of genotype-phenotype correlation. (Source: Pediatric Neurology)

AF-associated stroke ‘a distinct pathophysiologic and clinical entity’

MedWire News - Stroke — Fri, 20 Nov 2009 14:37:05 +0100

Strokes associated with atrial fibrillation account for around one-third of the total and tend to be particularly severe, disabling, and likely to recur, research suggests. (Source: MedWire News - Stroke)

Management of hydrocephalus in patients with tuberculous meningitis