NeurologyThis is an RSS file. You can use it to subscribe to this data in your favourite RSS reader, such as GoogleReader, or to display this data on your own website or blog. Subscribe to this data using MyMedWorm.Subscribe to this data using GoogleReader.Subscribe to this data using Bloglines.Subscribe to this data using MyYahoo.

This page shows you the most recent publications within this specialty of the MedWorm directory.

Pages: 1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 17 18 19 20 21 22 23 24 25 26 27 28 29 30

Coiling for very small aneurysms ‘feasible and effective’Email this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
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)
Source: MedWire News - Stroke - November 21, 2009 Category: Neurology Source Type: news

Prevalence of prothrombotic polymorphisms in a selected cohort of cryptogenic and noncryptogenic ischemic stroke patientsEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
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)
Source: Neurology India - November 21, 2009 Category: Neurology Authors: Calabro Rocco Salvatore, La Spina Paolino, Serra Salvatore, Lagana Angelina, Postorino Paolo, Savica Rodolfo, Mammi Corrado, Lagana Carmelo, Musolino Rosa Source Type: journals

Drug Studied As Possible Treatment For Spinal InjuriesEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
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)
Source: Multiple Sclerosis News From Medical News Today - November 21, 2009 Category: Neurology Tags: Neurology / Neuroscience Source Type: news

Editor's choice.Email this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
PMID: 19923109 [PubMed - as supplied by publisher] (Source: Practical Neurology)
Source: Practical Neurology - November 21, 2009 Category: Neurology Authors: Warlow C Tags: Pract Neurol Source Type: journals

What next for medical journals?Email this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
PMID: 19923110 [PubMed - as supplied by publisher] (Source: Practical Neurology)
Source: Practical Neurology - November 21, 2009 Category: Neurology Authors: Godlee F Tags: Pract Neurol Source Type: journals

Diagnosis and management of the limb girdle muscular dystrophies.Email this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
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...
Source: Practical Neurology - November 21, 2009 Category: Neurology Authors: Bushby K Tags: Pract Neurol Source Type: journals

Assess and interpret the visual fields at the bedside.Email this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
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 pi...
Source: Practical Neurology - November 21, 2009 Category: Neurology Authors: Cooper SA, Metcalfe RA Tags: Pract Neurol Source Type: journals

The borderland of neuromyelitis optica.Email this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
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)
Source: Practical Neurology - November 21, 2009 Category: Neurology Authors: Matthews LA, Baig F, Palace J, Turner MR Tags: Pract Neurol Source Type: journals

It's all in the history (a continuing story).Email this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
PMID: 19923114 [PubMed - as supplied by publisher] (Source: Practical Neurology)
Source: Practical Neurology - November 21, 2009 Category: Neurology Authors: Morrish P Tags: Pract Neurol Source Type: journals

When a clear crystal makes a case crystal clear.Email this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
PMID: 19923115 [PubMed - as supplied by publisher] (Source: Practical Neurology)
Source: Practical Neurology - November 21, 2009 Category: Neurology Authors: Bena R, Züger M, Pung T, Gallus E, Weisshaupt C, Krause M Tags: Pract Neurol Source Type: journals

Neuropoppycockology.Email this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
PMID: 19923116 [PubMed - as supplied by publisher] (Source: Practical Neurology)
Source: Practical Neurology - November 21, 2009 Category: Neurology Authors: Hawkes CH Tags: Pract Neurol Source Type: journals

From pseudotumour cerebri to idiopathic intracranial hypertension.Email this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
PMID: 19923117 [PubMed - as supplied by publisher] (Source: Practical Neurology)
Source: Practical Neurology - November 21, 2009 Category: Neurology Authors: Pearce JM Tags: Pract Neurol Source Type: journals

Traveller's headache.Email this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
PMID: 19923118 [PubMed - as supplied by publisher] (Source: Practical Neurology)
Source: Practical Neurology - November 21, 2009 Category: Neurology Authors: Knight B, Cader S, Awad M, Sabin I, Gawler J Tags: Pract Neurol Source Type: journals

Brazil.Email this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
PMID: 19923119 [PubMed - as supplied by publisher] (Source: Practical Neurology)
Source: Practical Neurology - November 21, 2009 Category: Neurology Authors: de Oliveira JR Tags: Pract Neurol Source Type: journals

Myasthenia gravis and other neuromuscular junction disorders.Email this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
PMID: 19923120 [PubMed - as supplied by publisher] (Source: Practical Neurology)
Source: Practical Neurology - November 21, 2009 Category: Neurology Authors: Jacob S, Viegas S, Lashley D, Hilton-Jones D Tags: Pract Neurol Source Type: journals

[Changes in cerebral perfusion induced by etomidate in patients with temporal lobe epilepsy.]Email this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
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)
Source: Revista de Neurologia - November 21, 2009 Category: Neurology Authors: Herrera-Peco I, Wix-Ramos R, Dominguez-Gadea L, Meilan-Paz ML, Martinez-Chacon JL, de Dios E, Sola RG, Pastor J Tags: Rev Neurol Source Type: journals

[Interpretation of proverbs and Alzheimer's disease.]Email this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
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)
Source: Revista de Neurologia - November 21, 2009 Category: Neurology Authors: Baez S, Mendoza L, Reyes P, Matallana D, Montanes P Tags: Rev Neurol Source Type: journals

[Clinical and therapeutic heterogeneity of cerebral venous thrombosis: a description of a series of 20 cases.]Email this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
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)
Source: Revista de Neurologia - November 21, 2009 Category: Neurology Authors: Flores-Barragan JM, Hernandez-Gonzalez A, Gallardo-Alcaniz MJ, Del Real-Francia MA, Vaamonde-Gamo J Tags: Rev Neurol Source Type: journals

[Spanish version of the Autonomic Symptom Profile test.]Email this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
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)
Source: Revista de Neurologia - November 21, 2009 Category: Neurology Authors: Marti-Martinez S, Monge-Argiles JA, Sanchez-Paya J, Turpin-Fenoll L, Martin-Estefania C, Leiva-Santana C Tags: Rev Neurol Source Type: journals

[A prospective, open, controlled and randomised study of clobazam versus carbamazepine in patients with frequent episodes of rolandic epilepsy.]Email this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
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)
Source: Revista de Neurologia - November 21, 2009 Category: Neurology Authors: Andrade R, Garcia-Espinosa A, Machado-Rojas A, Garcia-Gonzalez ME, Trapaga-Quincoses O, Morales-Chacon LM Tags: Rev Neurol Source Type: journals

[Cognitive models in attention deficit hyperactivity disorder.]Email this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
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)
Source: Revista de Neurologia - November 21, 2009 Category: Neurology Authors: Artigas-Pallares J Tags: Rev Neurol Source Type: journals

[The current state of the art concerning quality of life in Parkinson's disease: I. Instruments, comparative studies and treatments.]Email this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
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)
Source: Revista de Neurologia - November 21, 2009 Category: Neurology Authors: Frades-Payo B, Forjaz MJ, Martinez-Martin P Tags: Rev Neurol Source Type: journals

[Radiologically isolated syndrome.]Email this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
PMID: 19921626 [PubMed - as supplied by publisher] (Source: Revista de Neurologia)
Source: Revista de Neurologia - November 21, 2009 Category: Neurology Authors: Sempere AP, Lopez-Celada S, Berenguer-Ruiz L, Giner-Bernabeu JC, Hernandez-Rubio L Tags: Rev Neurol Source Type: journals

[XXXIV Reunion Anual de la Sociedad Espanola de Neurologia Pediatrica. III Reunion Iberica de Neuropediatria. Communications (II).]Email this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
Authors: PMID: 19921627 [PubMed - as supplied by publisher] (Source: Revista de Neurologia)
Source: Revista de Neurologia - November 21, 2009 Category: Neurology Tags: Rev Neurol Source Type: journals

[Seasonal birth patterns in multiple sclerosis.]Email this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
PMID: 19921628 [PubMed - as supplied by publisher] (Source: Revista de Neurologia)
Source: Revista de Neurologia - November 21, 2009 Category: Neurology Authors: Guerrero-Peral AL, Iglesias F, Gutierrez-Martin F, Martin-Polo J, Merino-Hernando S, Martin-Serradilla JI, Tejero MA Tags: Rev Neurol Source Type: journals

[Treatment of drooling with botulinum toxin type A in cerebral palsy.]Email this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
PMID: 19921629 [PubMed - as supplied by publisher] (Source: Revista de Neurologia)
Source: Revista de Neurologia - November 21, 2009 Category: Neurology Authors: Duarte CS, Alves TR, Azeredo PM, Almeida SI Tags: Rev Neurol Source Type: journals

[Fast progressive development of marked hypotonia.]Email this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
PMID: 19921630 [PubMed - as supplied by publisher] (Source: Revista de Neurologia)
Source: Revista de Neurologia - November 21, 2009 Category: Neurology Authors: Rute-Ferreira A, Marta R, Rocha S, Didelet C, Goncalves-Rodrigues E Tags: Rev Neurol Source Type: journals

[Early differential diagnosis of dysautonomia in Parkinson's disease by means of cardiac scintigraphy with 123I-MIBG.]Email this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
PMID: 19921631 [PubMed - as supplied by publisher] (Source: Revista de Neurologia)
Source: Revista de Neurologia - November 21, 2009 Category: Neurology Authors: Perez-Saldana MT, Perez-Velasco R, Burguera JA Tags: Rev Neurol Source Type: journals

[Fibromuscular dysplasia associated with cardiac fibroelastoma and blepharophimosis.]Email this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
PMID: 19921632 [PubMed - as supplied by publisher] (Source: Revista de Neurologia)
Source: Revista de Neurologia - November 21, 2009 Category: Neurology Authors: Jimenez-Caballero PE, Servia M, Marsal-Alonso C Tags: Rev Neurol Source Type: journals

[The value of ultrasound imaging of the substantia nigra in the differential diagnosis of Parkinson's disease.]Email this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
PMID: 19921633 [PubMed - as supplied by publisher] (Source: Revista de Neurologia)
Source: Revista de Neurologia - November 21, 2009 Category: Neurology Authors: Arjona A Tags: Rev Neurol Source Type: journals

Activation of PERK kinase in neural cells by proteasome inhibitor treatmentEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
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 signific...
Source: Journal of Neurochemistry - November 21, 2009 Category: Neurology Authors: Le Zhang, Philip J. Ebenezer, Kalavathi Dasuri, Annadora J. Bruce-Keller, Sun Ok Fernandez-Kim, Ying Liu, Jeffrey N. Keller Source Type: journals

WMS NewsEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
(Source: Neuromuscular Disorders)
Source: Neuromuscular Disorders - November 20, 2009 Category: Neurology Source Type: journals

WMS online application formEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
(Source: Neuromuscular Disorders)
Source: Neuromuscular Disorders - November 20, 2009 Category: Neurology Source Type: journals

Wms 2010Email this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
(Source: Neuromuscular Disorders)
Source: Neuromuscular Disorders - November 20, 2009 Category: Neurology Source Type: journals

3rd Annual Dysferlin Conference 2–5 June 2009, Boston, Massachusetts, USAEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
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 ...
Source: Neuromuscular Disorders - November 20, 2009 Category: Neurology Authors: Douglas E. Albrecht, Nupur Garg, Laura E. Rufibach, Bradley A. Williams, Nilah Monnier, Esther Hwang, Plavi Mittal Tags: Meeting report Source Type: journals

Patient Registries and Trial Readiness in Myotonic Dystrophy – TREAT-NMD/Marigold International Workshop ReportEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
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-...
Source: Neuromuscular Disorders - November 20, 2009 Category: Neurology Authors: Rachel Thompson, Benedikt Schoser, Darren G. Monckton, Karla Blonsky, Hanns Lochmüller Tags: Workshop report Source Type: journals

Myopathy secondary to intravascular large B-cell lymphomaEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
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 mu...
Source: Neuromuscular Disorders - November 20, 2009 Category: Neurology Authors: C. Marini-Bettolo, R. Lane, P. Charles, K. Naresh, R. Nicholas, P. Singh, A. Cohen, P. Mackie, F. Roncaroli Tags: Research papers Source Type: journals

Isolated inflammatory myopathy with rimmed vacuoles presenting with dropped headEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
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)
Source: Neuromuscular Disorders - November 20, 2009 Category: Neurology Authors: Hiroshi Kataoka, Kazuma Sugie, Mari Terashima, Munehisa Koizumi, Hirosei Horikawa, Ichizo Nishino, Ikuya Nonaka, Satoshi Ueno Tags: Research papers Source Type: journals

Myelin protein zero Val102fs mutation manifesting with isolated spinal root hypertrophyEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
This report adds new data concerning the clinical presentations of MPZ mutations. (Source: Neuromuscular Disorders)
Source: Neuromuscular Disorders - November 20, 2009 Category: Neurology Authors: Corrado Marchini, Sandro Zambito Marsala, Matteo Bendini, Federica Taioli, Giuseppe Damante, Incoronata Renata Lonigro, Gian Maria Fabrizi Tags: Research papers Source Type: journals

Novel Twinkle gene mutation in autosomal dominant progressive external ophthalmoplegia and multisystem failureEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
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 obse...
Source: Neuromuscular Disorders - November 20, 2009 Category: Neurology Authors: S. Bohlega, G. Van Goethem, A. Al Semari, A. Löfgren, M. Al Hamed, C. Van Broeckhoven, M. Kambouris Tags: Research papers Source Type: journals

Neuromuscular disease presentation with three genetic defects involving two genomesEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
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)
Source: Neuromuscular Disorders - November 20, 2009 Category: Neurology Authors: Mazhor Al-Dosary, Roger G. Whittaker, Joanna Haughton, Robert McFarland, Judith Goodship, Douglass M. Turnbull, Robert W. Taylor Tags: Research papers Source Type: journals

Late-onset MNGIE without peripheral neuropathy due to incomplete loss of thymidine phosphorylase activityEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
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)
Source: Neuromuscular Disorders - November 20, 2009 Category: Neurology Authors: Roberto Massa, Alessandra Tessa, Maria Margollicci, Vanna Micheli, Andrea Romigi, Giulia Tozzi, Chiara Terracciano, Fiorella Piemonte, Giorgio Bernardi, Filippo M. Santorelli Tags: Research papers Source Type: journals

Antisense oligonucleotide therapeutics for iron–sulphur cluster deficiency myopathyEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
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 ex...
Source: Neuromuscular Disorders - November 20, 2009 Category: Neurology Authors: Gittan Kollberg, Elisabeth Holme Tags: Research papers Source Type: journals

Ephedrine therapy in eight patients with congenital myasthenic syndrome due to DOK7 mutationsEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
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 a...
Source: Neuromuscular Disorders - November 20, 2009 Category: Neurology Authors: U. Schara, N. Barisic, M. Deschauer, C. Lindberg, V. Straub, N. Strigl-Pill, M. Wendt, A. Abicht, J.S. Müller, H. Lochmüller Tags: Research papers Source Type: journals

The difficulty in confirming clinical diagnosis of myasthenia gravis in a seronegative patient: A possible neurophysiological approachEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
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 stimulatio...
Source: Neuromuscular Disorders - November 20, 2009 Category: Neurology Authors: P. Caliandro, A. Evoli, E. Stålberg, G. Granata, P. Tonali, L. Padua Tags: Research papers Source Type: journals

Oestrogen receptor alpha gene intronic polymorphisms and autoimmune myasthenia gravis in Caucasian womenEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
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 grou...
Source: Neuromuscular Disorders - November 20, 2009 Category: Neurology Authors: Zsuzsanna Pal, Anikó Gal, Viktória Remenyi, Attila Tordai, Maria Judit Molnar Tags: Research papers Source Type: journals

Feasibility of foot and ankle strength training in childhood Charcot-Marie-Tooth diseaseEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
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 en...
Source: Neuromuscular Disorders - November 20, 2009 Category: Neurology Authors: Joshua Burns, Jacqueline Raymond, Robert Ouvrier Tags: Research papers Source Type: journals

Autosomal recessive inheritance of classic Bethlem myopathyEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
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 Ull...
Source: Neuromuscular Disorders - November 20, 2009 Category: Neurology Authors: A. Reghan Foley, Ying Hu, Yaqun Zou, Alexandra Columbus, John Shoffner, Diane M. Dunn, Robert B. Weiss, Carsten G. Bönnemann Tags: Research papers Source Type: journals

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 ModuleEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
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 measu...
Source: Neuromuscular Disorders - November 20, 2009 Category: Neurology Authors: Susan T. Iannaccone, Linda S. Hynan, Anne Morton, Renee Buchanan, Christine A. Limbers, James W. Varni, the AmSMART Group Tags: Research papers Source Type: journals

Editorial BoardEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
(Source: Neuromuscular Disorders)
Source: Neuromuscular Disorders - November 20, 2009 Category: Neurology Source Type: journals