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EAST syndrome (epilepsy, ataxia, sensorineural deafness, and tubulopathy)Email this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
(Source: Archives of Disease in Childhood)
Source: Archives of Disease in Childhood - November 20, 2009 Category: Pediatrics Tags: Miscellanea Source Type: journals

Isolated Ptosis as Acute Ophthalmoplegia Without Ataxia, Positive for Anti-GQ1b Immunoglobulin GEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
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 synd...
Source: Pediatric Neurology - November 20, 2009 Category: Neurology Authors: Geetanjali Jindal, Veena R. Parmar, Vipul K. Gupta Tags: Case Reports Source Type: journals

Reconstitution of Human Claspin-mediated Phosphorylation of Chk1 by the ATR (Ataxia Telangiectasia-mutated and Rad3-related) Checkpoint Kinase [Dna: Replication, Repair, Recombination, and Chromosome Dynamics]Email this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
ATR (ATM and Rad3-related) initiates a DNA damage signaling pathway in human cells upon DNA damage induced by UV and UV-mimetic agents and in response to inhibition of DNA replication. Genetic data with human cells and in vitro data with Xenopus egg extracts have led to the conclusion that the kinase activity of ATR toward the signal-transducing kinase Chk1 depends on the mediator protein Claspin. Here we have reconstituted a Claspin-mediated checkpoint system with purified human proteins. We find that the ATR-dependent phosphorylation of Chk1, but not p53, is strongly stimulated by Claspin. Similarly, DNA containing bulky...
Source: Journal of Biological Chemistry - November 20, 2009 Category: Chemistry Authors: Lindsey-Boltz, L. A., Sercin, O., Choi, J.-H., Sancar, A. Tags: Dna: Replication, Repair, Recombination, and Chromosome Dynamics Source Type: journals

The correlation between magnetic resonance imaging features of the brainstem and cerebellum and clinical features of spinocerebellar ataxia 3/Machado-Joseph diseaseEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
Conclusion</b> : The effect on the cerebellum and brainstem is related to predominant clinical features in SCA3/MJD patients. (Source: Neurology India)
Source: Neurology India - November 20, 2009 Category: Neurology Authors: Xiaochun Liang, Hong Jiang, Changqing Chen, Gaofeng Zhou, Junling Wang, Shen Zhang, Liwang Lei, Xiaoyi Wang, Beisha Tang Source Type: journals

Marchiafava-Bignami disease: Two cases with magnetic resonance imaging and positron emission tomography scan findingsEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
We report two patients with Marchiafava-Bignami disease (MBD). A 38-year-old male with chronic alcohol abuse developed acute onset cerebellar ataxia and altered sensorium. He was diagnosed to have acute form (Type II) of MBD. Magnetic resonance imaging (MRI) showed extensive lesions involving the corpus callosum in its entire extent and also bilateral corona radiata and centrum semiovale. Corpus callosum had heterogeneous signal changes with ring enhancement. Positron emission tomography scan demonstrated reduced cerebral glucose metabolism diffusely over both the cerebral hemispheres. The second patient was 55-year-old ma...
Source: Neurology India - November 20, 2009 Category: Neurology Authors: Nalini A, Kovoor Jerry M.E, Dawn Rose, Kallur Kumar G Source Type: journals

Cytotoxic Effects of Temozolomide and Radiation are Additive- and Schedule-DependentEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
Conclusions: TMZ is not a radiosensitizing agent but yields additive cytotoxicity in combination with radiation. Our data indicate that TMZ treatment should commence at least 3 days before radiation to achieve maximum benefit. Activation of G2/M checkpoint signaling by TMZ and radiation has a cytoprotective effect that can be overcome by dual inhibition of ATM and ATR. More specific inhibition of checkpoint signaling will be required to increase treatment efficacy without exacerbating toxicity. (Source: International Journal of Radiation Oncology * Biology * Physics)
Source: International Journal of Radiation Oncology * Biology * Physics - November 19, 2009 Category: Radiology Authors: Anthony J. Chalmers, Elliot M. Ruff, Christine Martindale, Nadia Lovegrove, Susan C. Short Tags: Biology Contributions Source Type: journals

Protein synthesis and its control in neuronal cells with a focus on vanishing white matter disease.Email this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
Protein synthesis (also termed mRNA translation) is a key step in the expression of a cell's genetic information, in which the information contained within the coding region of the mRNA is used to direct the synthesis of the new protein, a process that is catalysed by the ribosome. Protein synthesis must be tightly controlled, to ensure the right proteins are made in the right amounts at the right time, and must be accurate, to avoid errors that could lead to the production of defective and potentially damaging proteins. In addition to the ribosome, protein synthesis also requires proteins termed translation factors, w...
Source: Biochemical Society Transactions - November 18, 2009 Category: Biochemistry Authors: Pavitt GD, Proud CG Tags: Biochem Soc Trans Source Type: journals

Dravet syndrome and deep brain stimulation: Seizure control after 10 years of treatmentEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
Dravet syndrome is a genetically determined severe epilepsy associated with cognitive decline and ataxia. The many types of seizures seen in these patients are typically pharmacoresistant. Here we describe two adults with Dravet syndrome who were treated with thalamic deep brain stimulation (DBS) and followed for 10 years. One patient with partial onset seizures received DBS at age 19 and showed a marked improvement in seizure control after DBS insertion and stimulation. The other patient with generalized onset seizures received DBS at age 34 and did not show any immediate benefit. No side effects or changes in cognition w...
Source: Epilepsia - November 17, 2009 Category: Neurology Authors: Danielle M. Andrade, Clement Hamani, Andres M. Lozano, Richard A. Wennberg Source Type: journals

Extrapyramidal signs are a common feature of spinocerebellar ataxia type 17Email this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
(Source: Neurology)
Source: Neurology - November 16, 2009 Category: Neurology Authors: Lee, W. -W., Kim, S. Y., Kim, J. Y., Kim, H. J., Park, S. S., Jeon, B. S. Tags: Dystonia, Parkinson's disease/Parkinsonism, Chorea, Spinocerebellar ataxia CLINICAL/SCIENTIFIC NOTES Source Type: journals

Frequency and phenotype of SPG11 and SPG15 in complicated hereditary spastic paraplegiaEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
Conclusions: TCC seems to be the best phenotypic predictor for SPG11 as well as SPG15. No clinical features could discriminate between SPG11 and SPG15. Therefore, priority of genetic testing should be driven by mutation frequency that appears to be substantially higher in SPG11 than in SPG15. (Source: Journal of Neurology, Neurosurgery & Psychiatry)
Source: Journal of Neurology, Neurosurgery & Psychiatry - November 16, 2009 Category: Neurosurgery Authors: Schule, R, Schlipf, N, Synofzik, M, Klebe, S, Klimpe, S, Hehr, U, Winner, B, Lindig, T, Dotzer, A, Riess, O, Winkler, J, Schols, L, Bauer, P Tags: Genetics, Brain stem / cerebellum, Neuromuscular disease, Peripheral nerve disease, Child and adolescent psychiatry Short reports Source Type: journals

A Nuclear Poly(ADP-Ribose)-Dependent Signalosome Confers DNA Damage-Induced IκB Kinase ActivationEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
Michael Stilmann, Michael Hinz, Seda Çöl Arslan, Anja Zimmer, Valérie Schreiber, Claus Scheidereit. Upon genotoxic stresses, cells activate IκB kinases (IKKs) and the transcription factor NF-κB to modulate apoptotic responses. The SUMO-1 ligase PIASy and the kinase ataxia talengiectasia mutated .... (Source: Molecular Cell)
Source: Molecular Cell - November 13, 2009 Category: Cytology Source Type: journals

REM behaviour disorder preceding palatal tremorEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
We present a case of idiopathic REM behaviour disorder (RBD) that preceded the development of palatal tremor and ataxia by 2 years. This association has not been previously described. The syndrome of palatal tremor with ataxia (PAPT) is considered by some authors as a distinct neurodegenerative disease. In our case the combination of RBD, cerebellar and extrapyramidal dysfunction guided our diagnostic thought towards multiple system atrophy (MSA). After a 6-year follow-up, however, there were no signs of autonomic dysfunction, making the diagnosis of MSA unlikely. The case is accompanied by two video sequences; the first d...
Source: Sleep Medicine - November 12, 2009 Category: Sleep Medicine Authors: Anastasios Bonakis, Sokratis G. Papageorgiou, Simon Merritt, Adrian J. Williams Tags: Video-Clinical Corners Source Type: journals

Evidence for RNA-mediated toxicity in the fragile X-associated tremor/ataxia syndromeEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
Future Neurology , November 2009, Vol. 4, No. 6, Pages 785-798. (Source: Future Neurology)
Source: Future Neurology - November 12, 2009 Category: Neurology Tags: article Source Type: journals

p27Kip1 Stabilization Is Essential for the Maintenance of Cell Cycle Arrest in Response to DNA DamageEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
One of the current models of cancer proposes that oncogenes activate a DNA damage response (DDR), which would limit the growth of the tumor in its earliest stages. In this context, and in contrast to studies focused on the acute responses to a one-time genotoxic insult, understanding how cells respond to a persistent source of DNA damage might become critical for future studies in the field. We here report the discovery of a novel damage-responsive pathway, which involves p27Kip1 and retinoblastoma tumor suppressors and is only implemented after a persistent exposure to clastogens. In agreement with its late activation, we...
Source: Cancer Research - November 12, 2009 Category: Cancer & Oncology Authors: Cuadrado, M., Gutierrez-Martinez, P., Swat, A., Nebreda, A. R., Fernandez-Capetillo, O. Tags: Molecular Biology, Pathobiology, and Genetics Source Type: journals

Frequency and development of CNS involvement in Chinese children with hemophagocytic lymphohistiocytosisEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
We investigated the characteristics, frequency, and prognosis of central nervous system (CNS) involvement in patients with hemophagocytic lymphohistiocytosis (HLH).Neurological manifestations were prospectively assessed in 92 children with HLH treated from January 2004 to August 2008 at our center; 82 (89%) had associated viral infections (69 Epstein-Barr virus), one empyema, while no associated disease was identified in the remaining nine. Prior to treatment, all underwent cerebrospinal fluid (CSF) evaluation, brain computer tomography (CT) and/or magnetic resonance imaging (MRI).At diagnosis, 43 (47%) children had CNS in...
Source: Pediatric Blood and Cancer - November 12, 2009 Category: Cancer & Oncology Authors: Shuang Yang, Li Zhang, Chenguang Jia, Honghao Ma, Jan-Inge Henter, Kunling Shen Source Type: journals

The effect of daily repeated sedation using ketamine or ketamine combined with medetomidine on physiology and anesthetic characteristics in Rhesus MacaquesEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
Conclusion These findings demonstrate repeated anesthesia with ketamine can initiate changes suggesting a tolerance effect. (Source: Journal of Medical Primatology)
Source: Journal of Medical Primatology - November 12, 2009 Category: Research Authors: T.L. Settle, P.J. Rico, L.A. Lugo-Roman Source Type: journals

Travel Grants for National Ataxia Foundation 53rd Annual Membership MeetingEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
The National Ataxia Foundation 53Rd Annual Membership Meeting "Winds of Progress" Chicago, IL – March 12-14, 2010 Travel grants can help pay for airfare, lodging, and food. The dollar amount is $250.00 per awarded travel grant. No more than one travel grant will be awarded to an applicant. Those receiving a travel grant and do notattend the annual membership meeting are required to reimburse the Foundation for the totalamount of the travel grant award. The 2010 NAF Annual Membership Meeting will bring together NAF members and their families to meet and learn from world leading ataxia researchers and neurol...
Source: ScanGrants feed - November 12, 2009 Category: Research Authors: National ataxia Foundation Source Type: funding

2010 ASN AbstractsEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
Conclusion: VBD can enlarge to significant dimensions, producing compressive symptoms in the brainstem, as well as thrombosis and ischemic strokes. SACE of the dolichoectasia can be effective for the vessel reconstruction, to prevent progression of the dilatation, and other potential clinical events. 3. Three Case Reports of Multiple Carotid and/or Vertebral Artery Dissections in Female Mei Lu, Heather Gornik, Esteban Cheng Ching, Vikram Kashyap, Rishi Gupta Cleveland Clinic Foundation, Cleveland, OH 44195, United States Introduction: Multiple carotid and/or vertebral artery dissections are rare. However, patients with mul...
Source: Journal of Neuroimaging - November 11, 2009 Category: Radiology Source Type: journals

Neurodegenerative central nervous system Langerhans cell histiocytosis and coincident hydrocephalus treated with vincristine/cytosine arabinosideEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
Central nervous system (CNS) complications of Langerhans cell histiocytosis (LCH) include mass lesions and a neurodegenerative (ND) syndrome with ataxia, dysarthria, dysmetria, learning and behavior difficulties and/or characteristic changes on brain MRIs. Hydrocephalus has rarely been reported in LCH. LCH lesions of the orbit, mastoid and temporal bones ("CNS-Risk" lesions) and diabetes insipidus predispose patients to ND-CNS-LCH. Treatment options have been limited and only a case series using trans-retinoic acid (ATRA) and intravenous immunoglobulin (IVIG) have been published.We have used cytosine arabinoside (ARA-C) wi...
Source: Pediatric Blood and Cancer - November 11, 2009 Category: Cancer & Oncology Authors: Carl E. Allen, Ricardo Flores, Ronald Rauch, Robert Dauser, Jeffrey C. Murray, Diane Puccetti, David A. Hsu, Paul Sondel, Maxine Hetherington, Stan Goldman, Kenneth L. McClain Source Type: journals

Psychological symptoms correlate with reduced hippocampal volume in fragile X premutation carriersEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
This study assessed the relationship between hippocampal volume and psychological symptoms in carriers, both with and without FXTAS, and controls. Volumetric MRI measures, clinical staging, cognitive testing, molecular analysis, and measures of psychological symptoms were performed for female premutation carriers both with FXTAS (n = 16, age: 57.50 ± 12.46) and without FXTAS (n = 17, age: 44.94 ± 11.23), in genetically normal female controls (n = 8, age: 50.63 ± 11.43), male carriers with FXTAS (n = 34, age: 66.44 ± 6.77) and without FXTAS (n = 21, age: 52.38 ± 12.11), and genetically normal male controls (n = 30, age...
Source: American Journal of Medical Genetics Part B: Neuropsychiatric Genetics - November 11, 2009 Category: Genetics & Stem Cells Authors: P.E. Adams, J.S. Adams, D.V. Nguyen, D. Hessl, J.A. Brunberg, F. Tassone, W. Zhang, K. Koldewyn, S.M. Rivera, J. Grigsby, L. Zhang, C. DeCarli, P.J. Hagerman, R.J. Hagerman Source Type: journals

The ATM and ATR inhibitors CGK733 and caffeine suppress cyclin D1 levels and inhibit cell proliferationEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
The ataxia telangiectasia mutated (ATM) and the ATM- related (ATR) kinases play a central role in facilitating the resistance of cancer cells to genotoxic treatment regimens. The components of the ATM and ATR regulated signaling pathways thus provide attractive pharmacological targets, since their inhibition enhances cellular sensitivity to chemo- and radiotherapy. Caffeine as well as more specific inhibitors of ATM (KU55933) or ATM and ATR (CGK733) have recently been shown to induce cell death in drug-induced senescent tumor cells. Addition of these agents to cancer cells previously rendered senescent by exposure to genot...
Source: Radiation Oncology - November 10, 2009 Category: Cancer & Oncology Authors: John AlaoPer Sunnerhagen Source Type: journals

Refractory generalized seizures and cerebellar ataxia associated with anti-GAD antibodies responsive to immunosuppressive treatmentEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
(Source: European Journal of Neurology)
Source: European Journal of Neurology - November 10, 2009 Category: Neurology Authors: V. Nociti, G. Frisullo, T. Tartaglione, A. K. Patanella, R. Iorio, P. A. Tonali, A. P. Batocchi Source Type: journals

Parkinson's Disease: Reviews of clinical manifestations, diagnosis, disease markers and multiple system atrophyEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
Source: Lancet Neurology Area: News The December issue of Lancet Neurology contains the following review articles on Parkinson's disease (PD): . The first article discusses the motor, cognitive, and psychiatric manifestations associated with the dopaminergic deficiency in the early phase of the parkinsonian state. . The second article reviews the clinical features and overlapping molecular mechanisms of chronic dopaminergic stimulation in PD. . The third article discusses the diagnostic criteria for the neuropathological assessment of PD. . The fourth article...
Source: NeLM - News - November 10, 2009 Category: Drugs & Pharmacology Source Type: organizations

Possible jcv granular cell neuronopathy in a patient with hiv infectionEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
(Source: Neurology)
Source: Neurology - November 9, 2009 Category: Neurology Authors: Tan, I. L., Brew, B. J. Tags: Viral infections, HIV, Gait disorders/ataxia CLINICAL/SCIENTIFIC NOTES Source Type: journals

Childhood Chorea With Cerebral Hypotrophy: A Treatable GLUT1 Energy Failure Syndrome [Observation]Email this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
Conclusions To date, glucose transporter type 1 deficiency syndrome includes several epileptic and movement disorder phenotypes caused by the clinical expressivity of the prominent cortical, basal ganglia, and cerebellar abnormalities found in the disease, but hypomorphic or novel variants are probably yet to be discovered. (Source: Archives of Neurology)
Source: Archives of Neurology - November 9, 2009 Category: Neurology Authors: Perez-Duenas, B., Prior, C., Ma, Q., Fernandez-Alvarez, E., Setoain, X., Artuch, R., Pascual, J. M. Tags: Neurology, Neurogenetics, Movement Disorders, Pediatric Neurology, Pediatrics, Congenital Malformations Observation Source Type: journals

[Review] Multiple system atrophy: an updateEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
Multiple system atrophy (MSA) is a sporadic and rapidly progressive neurodegenerative disorder that presents with autonomic failure in combination with parkinsonism or cerebellar ataxia. Over the past 5 years, substantial progress has been achieved in understanding the pathogenesis of the disease. Important insights into the epidemiology and genetics of MSA have confirmed the key pathogenic role of α-synuclein. Advances in the early recognition of this disease have resulted in revised diagnostic criteria, including, for the first time, neuroimaging indices. Finally, novel therapeutic options targeting disease modification...
Source: Lancet Neurology - November 9, 2009 Category: Neurology Authors: Nadia Stefanova, Philipp Bücke, Susanne Duerr, Gregor Karl Wenning Tags: Review Source Type: journals

Lundbeck Starts Clinical Phase IIa With Lu AA24493 (cEPO) In Friedreich's Ataxia In A Study Also Assessing Efficacy Via BiomarkersEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
H. Lundbeck A/S strengthens its pipeline of pharmaceuticals in clinical development by initiating phase IIa clinical studies with the innovative project Lu AA24493 in order to evaluate safety and tolerability and to explore theoretical efficacy parameters of the drug in humans. Lundbeck expects to enrol 35-40 people suffering from Friedreich's ataxia in this study. (Source: Health News from Medical News Today)
Source: Health News from Medical News Today - November 7, 2009 Category: Consumer Health News Tags: Neurology / Neuroscience Source Type: news

Lundbeck Starts Clinical Phase IIa With Lu AA24493 (cEPO) In Friedreich's Ataxia In A Study Also Assessing Efficacy Via BiomarkersEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
H. Lundbeck A/S strengthens its pipeline of pharmaceuticals in clinical development by initiating phase IIa clinical studies with the innovative project Lu AA24493 in order to evaluate safety and tolerability and to explore theoretical efficacy parameters of the drug in humans. Lundbeck expects to enrol 35-40 people suffering from Friedreich's ataxia in this study. (Source: Pharma Industry News From Medical News Today)
Source: Pharma Industry News From Medical News Today - November 7, 2009 Category: Pharmaceuticals Tags: Neurology / Neuroscience Source Type: news

Extracerebellar MRI-Lesions in Ataxia Telangiectasia Go Along with Deficiency of the GH/IGF-1 Axis, Markedly Reduced Body Weight, High Ataxia Scores and Advanced Age.Email this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
Ataxia telangiectasia (AT) is a rare autosomal recessive disorder characterized by progressive ataxia, neurodegeneration, immunodeficiency, and cancer predisposition. Pathoanatomical studies reported a degeneration of cerebellar Purkinje cells as the striking feature of the disease. Although recent studies suggested the involvement of extracerebellar structures such as the brainstem and basal ganglia, this has rarely been studied in human AT. Thus, we performed a detailed cliniconeuroradiological investigation of 11 AT patients, aged 8 to 26 years by collecting clinical neurological data, ataxia scores, growth status, ...
Source: Cerebellum - November 7, 2009 Category: Neuroscience Authors: Kieslich M, Hoche F, Reichenbach J, Weidauer S, Porto L, Vlaho S, Schubert R, Zielen S Tags: Cerebellum Source Type: journals

Substrate deprivation therapy in juvenile Sandhoff diseaseEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
Summary Substrate deprivation therapy has been successfully applied in a number of lysosomal storage diseases, such as Gaucher disease. So far only limited experience is available in Sandhoff disease. We initiated substrate deprivation therapy in one male patient, who initially presented at the age of 3.5 years with epilepsy and regression in motor skills and speech development. Juvenile Sandhoff disease was diagnosed on the basis of a decreased hexosaminidase activity in leukocytes and a homozygous HEXB gene mutation. After the epilepsy was controlled, the clinical course remained stable for years, defined b...
Source: Journal of Inherited Metabolic Disease - November 6, 2009 Category: Internal Medicine Tags: Journal of Inherited Metabolic Disease Source Type: journals

Miglustat therapy in juvenile Sandhoff diseaseEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
Summary GM2-gangliosidosis is a rare and heterogeneous inherited metabolic disorder caused by autosomal recessive mutations in genes encoding the lysosomal enzyme β-hexosaminidase, resulting in the accumulation of ganglioside GM2 in various tissues, particularly the central nervous system. It is characterized by progressive neurological deterioration that mainly affects motor and spinocerebellar function. Several forms of GM2-gangliosidosis exist, including the Sandhoff variant. Currently there is no treatment for these conditions, except for palliative care. Miglustat (Zavesca) is a reversible inhibitor of ...
Source: Journal of Inherited Metabolic Disease - November 6, 2009 Category: Internal Medicine Tags: Journal of Inherited Metabolic Disease Source Type: journals

Doppel and PrPC co-immunoprecipitate in detergent-resistant membrane domains of epithelial FRT cells.Email this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
Dpl is a paralog of the PrPC, whose misfolded conformer (PrPSc) is responsible for the onset of transmissible spongiform encephalopathies (TSEs), or prion diseases. It has been shown that the ectopic expression of Dpl in the brain of some lines of PrP knock out mice provokes cerebellar ataxia that can be rescued by the reintroduction of the PrP gene, suggesting a functional interaction between the two proteins. It is, however, still unclear where and under which conditions, this event may occur. In the present study we addressed this issue by analyzing the intracellular localization and the interaction between Dpl and PrPC...
Source: BJ Cell - November 5, 2009 Category: Biochemistry Authors: A Caputo, D Sarnataro, V Campana, M Costanzo, A Negro, C M. Sorgato, C Zurzolo Tags: BJ Cell Source Type: journals

Auditory Perception in Individuals with Friedreich's AtaxiaEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
Audiol Neurotol 2010;15:229-240 (DOI:10.1159/000255341) (Source: Audiology and Neurotology)
Source: Audiology and Neurotology - November 4, 2009 Category: Audiology Source Type: journals

Machado-Joseph disease/SCA3 and myotonic dystrophy type 1 in a single patientEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
We report here, for the first time, the case of a 41-year-old man with both Machado-Joseph disease (MJD)/spinocerebellar ataxia type 3 (SCA3) and myotonic dystrophy type 1. The patient noted dysarthria at 14 years of age and unsteady gait at 30 years of age. Similar sized expansions of the CAG trinucleotide repeats in one allele of the ataxin-3 (ATXN3) gene were found in both the patient and his father, although in the other allele the length of the CAG repeats was shorter in the father compared with the patient. In the dystrophia myotonica protein kinase (DMPK) gene the CTG repeats were much more expanded in the patient c...
Source: Clinical Neurology and Neurosurgery - November 4, 2009 Category: Neurosurgery Authors: Shiroh Miura, Yasumasa Ohyagi, Taro Miike, Kazuhito Noda, Kyoko Motomura, Mitsuyoshi Ayabe, Hisamichi Aizawa, Takayuki Taniwaki Tags: Original articles Source Type: journals

Evaluation of regional cerebral blood flow in cerebellar variant of multiple system atrophy using FineSRTEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
Conclusion: We suggest that a widespread brain involvement is present in patients with MSA-C and the decreased rCBF in the pons may support the differential diagnosis between MSA-C and LCCA. (Source: Clinical Neurology and Neurosurgery)
Source: Clinical Neurology and Neurosurgery - November 4, 2009 Category: Neurosurgery Authors: Noriyuki Kimura, Toshihide Kumamoto, Teruaki Masuda, Yuki Nomura, Takuya Hanaoka, Yusuke Hazama, Toshio Okazaki Tags: Original articles Source Type: journals

Genomic instability and the selection of treatments for cancerEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
A critical link exists between DNA mutation and chromosomal rearrangements (genomic instability) and cancer development. This genomic instability can manifest itself as small changes at the nucleotide level or as gross chromosomal alterations. Mutations in the genes that encode DNA damage response proteins are responsible for a variety of genomic instability syndromes including hereditary non-polyposis colorectal carcinoma, Bloom's syndrome, ataxia-telangiectasia, BRCA-associated breast and ovarian cancers and Fanconi anaemia. Similarly, epigenetic silencing of genes associated with the maintenance of genomic stability hav...
Source: The Journal of Pathology - November 3, 2009 Category: Pathology Authors: Sarah A Martin, Madeleine Hewish, Christopher J Lord, Alan Ashworth Source Type: journals

Lundbeck starts clinical phase IIa with Lu AA24493 (cEPO)Email this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
in Friedreich's ataxia in a study also assessing efficacy via biomarkers (Source: Pharmacy Europe)
Source: Pharmacy Europe - November 2, 2009 Category: Drugs & Pharmacology Source Type: news

Prion diseasesEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
Abstract: Human prion diseases are a rare and diverse group of neurodegenerative diseases that have long provoked interest from physicians and scientists. Initially, this related to the enigma of a group of diseases with inherited, sporadic and acquired forms, and then subsequently to the proposition that the infectious agent comprised an abnormally folded but widely expressed cell-surface protein. More recently, the epidemic of bovine spongiform encephalopathy in cattle and its transmission to humans as variant Creutzfeldt–Jakob disease has raised major public health concerns in the UK and other European countries. From...
Source: Medicine - November 1, 2009 Category: Internal Medicine Authors: Diego Kaski, Simon Mead Tags: Nervous system infections Source Type: journals

CDKL5 and ARX mutations are not responsible for early onset severe myoclonic epilepsy in infancyEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
Summary: Background: Severe myoclonic epilepsy of infancy (SMEI) or Dravet syndrome (DS) is a distinctive epilepsy syndrome often associated with de novo mutations in the SCN1A gene. However, 25–30% patients with SMEI/DS are negative for SCN1A mutation screening, suggesting that other molecular mechanisms may account for these disorders. Given the overlapping and heterogeneous clinical features of CDKL5- and ARX-related epilepsies and SMEI/DS, we postulated that CDKL5 mutations in females and ARX mutations gene in males may be associated with early onset seizures forms of SMEI/DS.Methods: Twenty-eight patients with early...
Source: Epilepsy Research - November 1, 2009 Category: Neurology Authors: Rima Nabbout, Christel Depienne, Mathilde Chipaux, Benoit Girard, Isabelle Souville, Oriane Trouillard, Olivier Dulac, Jamel Chelly, Alexandra Afenjar, Delphine Héron, Eric Leguern, Cherif Beldjord, Thierry Bienvenu, Nadia Bahi-Buisson Tags: Research Papers Source Type: journals

Naphthalimides induce G(2) arrest through the ATM-activated Chk2-executed pathway in HCT116 cells.Email this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
Naphthalimides, particularly amonafide and 2-(2-dimethylamino)-6-thia-2-aza-benzo[def]chrysene-1,3-diones (R16), have been identified to possess anticancer activities and to induce G(2)-M arrest through inhibiting topoisomerase II accompanied by Chk1 degradation. The current study was designed to precisely dissect the signaling pathway(s) responsible for the naphthalimide-induced cell cycle arrest in human colon carcinoma HCT116 cells. Using phosphorylated histone H3 and mitotic protein monoclonal 2 as mitosis markers, we first specified the G(2) arrest elicited by the R16 and amonafide. Then, R16 and amonafide were re...
Source: Neoplasia - November 1, 2009 Category: Cancer & Oncology Authors: Zhu H, Miao ZH, Huang M, Feng JM, Zhang ZX, Lu JJ, Cai YJ, Tong LJ, Xu YF, Qian XH, Ding J Tags: Neoplasia Source Type: journals

Dysnomia, Ataxia, Choreoathetosis, Sensory Impairment, and Gait Imbalance after Lentiform Nucleus StrokeEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
We descirbe a patient in whom dysnomia, ataxia, choreoathetosis, sensory impairment, and severe gait imbalance resulted from an isolated left lentiform nucleus-posterior limb of internal capsule lacunar stroke. Each of these deficits has been described as a consequence of unilateral basal ganglia or internal capsule infarction in prior reports, but the combination of these findings in one patient is unusual. Accurate localization of the lesion to the anterior circulation has potential therapeutic implications. (Source: Journal of Stroke and Cerebrovascular Diseases)
Source: Journal of Stroke and Cerebrovascular Diseases - November 1, 2009 Category: Neurology Authors: Andrew D. Galbreath, Larry B. Goldstein Tags: Case Reports Source Type: journals

Acute Stroke Symptoms: Comparing Women and Men: Lisabeth LD, Brown DL, Hughes R, Majersik JJ, Morgenstern LB. Stroke 2009;40:2031–6Email this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
This retrospective study from the University of Michigan Hospital examined the prevalence of traditional vs. non-traditional stroke and transient ischemic attack (TIA) symptoms as they are reported by women vs. men. Over a 3-year period, emergency department and admission logs were tracked and interviews were conducted with each patient or his or her proxy if a patient was unable to participate. Preceding symptom information was collected and classified as traditional or non-traditional based on the American Stroke Association's published stroke warning signs. Traditional symptoms included hemi-body numbness, diplopia, oth...
Source: The Journal of Emergency Medicine - November 1, 2009 Category: Emergency Medicine Authors: Margaret Sande Tags: Abstracts Source Type: journals

Metronidazole: Cerebellar ataxia in a transplant recipient: case reportEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
(Source: Reactions)
Source: Reactions - October 31, 2009 Category: Drugs & Pharmacology Tags: Short communication Source Type: journals

Large scale calcium channel gene rearrangements in episodic ataxia and hemiplegic migraine: implications for diagnostic testingEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
Conclusions: Large scale deletions and duplications can cause CACNA1A associated channelopathies. Direct DNA sequencing alone is not sufficient as a diagnostic screening test. (Source: Journal of Medical Genetics)
Source: Journal of Medical Genetics - October 30, 2009 Category: Genetics & Stem Cells Authors: Labrum, R W, Rajakulendran, S, Graves, T D, Eunson, L H, Bevan, R, Sweeney, M G, Hammans, S R, Tubridy, N, Britton, T, Carr, L J, Ostergaard, J R, Kennedy, C R, Al-Memar, A, Kullmann, D M, Schorge, S, Temple, K, Davis, M B, Hanna, M G Tags: Eye Diseases, Molecular genetics, Immunology (including allergy), Headache (including migraine), Epidemiology Mutation reports Source Type: journals

Selected Update: Therapeutics: One and one makes...Email this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
The status of p53 together with one of its regulators - ataxia telangiectasia mutated (ATM) - can indicate the probable response of a tumor to therapy. (Source: Nature Signaling Update)
Source: Nature Signaling Update - October 30, 2009 Category: Research Source Type: info

Intrathecal liposomal cytarabine in combination with temozolomide in low-grade oligoastrocytoma with leptomeningeal disseminationEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
Abstract Leptomeningeal dissemination of low-grade gliomas is an uncommon event. A 43-year old male presented with dizziness, gait ataxia, and diplopia. A nonenhancing lesion in the right cerebellar peduncle was identified, subtotally resected, and diagnosed as a grade II astrocytoma. After one year a nodular spread in the brain and leptomeninges was diagnosed, so the patient started chemotherapy with temozolomide and liposomal cytarabine. Complete remission was achieved after 12 months of treatment and the patient is still free from the disease after a follow-up of 24 months. We suggest that this ...
Source: Journal of Neuro-Oncology - October 30, 2009 Category: Cancer & Oncology Tags: Journal of Neuro-Oncology Source Type: journals

ATM and ATR protect the genome against two different types of tandem repeat instability in Fragile X premutation miceEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
Expansion of a tandem repeat tract is responsible for the Repeat Expansion diseases, a group of more than 20 human genetic disorders that includes those like Fragile X (FX) syndrome that result from repeat expansion in the FMR1 gene. We have previously shown that the ATM and Rad3-related (ATR) checkpoint kinase protects the genome against one type of repeat expansion in a FX premutation mouse model. By crossing the FX premutation mice to Ataxia Telangiectasia-Mutated (Atm) mutant mice, we show here that ATM also prevents repeat expansion. However, our data suggest that the ATM-sensitive mechanism is different from the ATR-...
Source: Nucleic Acids Research - October 30, 2009 Category: Research Authors: Entezam, A., Usdin, K. Tags: Genome Integrity, Repair and Replication Source Type: journals

Progressive GAA·TTC Repeat Expansion in Human Cell LinesEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
Author Summary The human genome is comprised of the DNA base sequences used by the cell as a blueprint to direct proper cellular function. Changes in this sequence, known as genomic instability, often interfere with vital cellular functions, resulting in genetic disorders. Repetitive DNA sequences are particularly susceptible to genomic instability. Trinucleotide repeat disorders are caused by three base repeat sequences that increase in size when passed from parent to child and during aging. Trinucleotide repeat expansion results in disease when the size of the repeat sequence increases into the pathogenic size range. Ou...
Source: PLoS Genetics - October 30, 2009 Category: Genetics & Stem Cells Authors: Scott Ditch et al. Source Type: journals

Episodic ataxia type 2: unusual aspects in clinical and genetic presentation. Special emphasis in childhoodEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
Conclusion: EA2 may present with still unknown genetic mutations in adults, and with large and various phenotypes in children, such as short attacks of imbalance or permanent imbalance, cognitive deficiency, and possibly strabismus and hyperactivity. (Source: Journal of Neurology, Neurosurgery & Psychiatry)
Source: Journal of Neurology, Neurosurgery & Psychiatry - October 28, 2009 Category: Neurosurgery Authors: Bertholon, P, Chabrier, S, Riant, F, Tournier-Lasserve, E, Peyron, R Tags: Genetics, Cranial nerves, Drugs: CNS (not psychiatric), Headache (including migraine), Pain (neurology), Ophthalmology, Ear, nose and throat/otolaryngology Short reports Source Type: journals

Cerebellar Lingula Size and Experiential Risk Factors Associated with High Levels of Alcohol and Drug Use in Young Adults.Email this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
In conclusion, physical maltreatment was observed to interact with cerebellar morphology resulting in a strong association with alcohol and substance use. Lingula thickness may represent a novel, experientially sensitive, phenotypic risk factor for enhanced alcohol and drug use that perhaps modulates sensitivity to these agents. PMID: 19859774 [PubMed - as supplied by publisher] (Source: Cerebellum)
Source: Cerebellum - October 28, 2009 Category: Neuroscience Authors: Anderson CM, Rabi K, Lukas SE, Teicher MH Tags: Cerebellum Source Type: journals