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A nationwide survey on marinesco-sjogren syndrome in Japan
Conclusions: The results of haplotype analysis suggested the presence of a founder effect. The clinical features of patients without SIL1 mutations were indistinguishable from those with SIL1 mutations, suggesting the genetic heterogeneity of MSS. (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - April 23, 2014 Category: Internal Medicine Authors: Masahide GotoMari OkadaHirofumi KomakiKenji SugaiMasayuki SasakiSatoru NoguchiIkuya NonakaIchizo NishinoYukiko Hayashi Source Type: research
Dorsal root ganglionopathy is responsible for the sensory impairment in CANVAS
Conclusion: The likely underlying sensory pathology in CANVAS is loss of neurons from the dorsal root and V, VII, and VIII cranial nerve ganglia—in other words, it is a "neuronopathy" rather than a "neuropathy." Clinically, CANVAS is a differential diagnosis for both spinocerebellar ataxia type 3 (or Machado-Joseph disease) and Friedreich ataxia. In addition, there are 6 sets of sibling pairs, implying that CANVAS is likely to be a late-onset recessive or autosomal dominant with reduced penetrance disorder, and identification of the culprit gene is currently a target of investigation. (Source: Neurology)
Source: Neurology - April 21, 2014 Category: Neurology Authors: Szmulewicz, D. J., McLean, C. A., Rodriguez, M. L., Chancellor, A. M., Mossman, S., Lamont, D., Roberts, L., Storey, E., Halmagyi, G. M. Tags: All Neurotology ARTICLE Source Type: research
Stroke and nonstroke brain attacks in children
Conclusions: Brain attack etiologies differ from adults, with stroke being the fourth most common diagnosis. These findings will inform development of ED clinical pathways for pediatric brain attacks. (Source: Neurology)
Source: Neurology - April 21, 2014 Category: Neurology Authors: Mackay, M. T., Chua, Z. K., Lee, M., Yock-Corrales, A., Churilov, L., Monagle, P., Donnan, G. A., Babl, F. E. Tags: Childhood stroke, All Cerebrovascular disease/Stroke, All Pediatric, Prevalence studies ARTICLE Source Type: research
Analysis of intervertebral disc-related genes.
In this study, some differentially expressed genes were identified, and a network was constructed based on these genes. Through the statistical analysis of nodes and the contrast of 2 more connectivity nodes, it was found that the nodes in the network are in an important position and play key roles. Several of these genes, including MAP2K6, MAP2K3, and MAPK14, belong to the MAP kinase family, and several genes, including RHOBTB2, RHOQ, and RHOH, belong to the RHO family. Therefore, we hypothesize that the development of intervertebral disk disease is related to MAP and RHO family proteins. PMID: 24737428 [PubMed - in ...
Source: Genetics and Molecular Research - April 19, 2014 Category: Genetics & Stem Cells Authors: Wu DJ, Chen K, Wei XZ, Ni HJ, Yu SZ, Zhu XD, Li M Tags: Genet Mol Res Source Type: research
Progressive neurodegenerative disorder linked to R-loop formation
A new feature of the genetic mutation responsible for the progressive neurodegenerative disorder, fragile X-associated tremor/ataxia syndrome -- the formation of 'R-loops,' has been discovered. Researchers believe it may be associated with the disorder's neurological symptoms, such as tremors, lack of balance, features of Parkinsonism, and cognitive decline. (Source: ScienceDaily Headlines)
Source: ScienceDaily Headlines - April 17, 2014 Category: Science Source Type: news
Phenotype and frequency of STUB1 mutations: next-generation screenings in Caucasian ataxia and spastic paraplegia cohorts
Conclusions: STUB1-disease occurs also in Caucasian ataxia populations (1.8%). Our results expand the genotypic spectrum of STUB1-disease, showing that pathogenic mutations affect also the tetratricopeptide-repeat domain, thus providing clinical evidence for the functional importance of this domain. Moreover, they further delineate the phenotypic core features of STUB1-ataxia. Pyramidal tract damage is a common accompanying feature and can include lower limb spasticity, thus adding STUB1-ataxia to the differential diagnosis of "spastic ataxias". However, STUB1 is rare in subjects with predominant spastic paraplegia (0/133)...
Source: Orphanet Journal of Rare Diseases - April 17, 2014 Category: Internal Medicine Authors: Matthis SynofzikRebecca SchüleMartin SchulzeJanina Gburek-AugustatRoland SchweizerAnja SchirmacherIngeborg Krägeloh-MannMichael GonzalezPeter YoungStephan ZüchnerLudger SchölsPeter Bauer Source Type: research
Intragenic CAMTA1 deletions are associated with a spectrum of neurobehavioral phenotypes.
We report a detailed phenotypic and molecular characterization of three individuals with novel intragenic CAMTA1 deletions from two unrelated families and compare the findings to those of previously reported patients. Our patients had deletions of exons 6-11 and presented with ID, developmental delay (DD), attention deficit hyperactivity disorder (ADHD) and constipation. Two individuals from one family had also unsteady gait. Consistent phenotypes associated with CAMTA1 intragenic rearrangements include ID, speech problems and some dysmorphic features whereas neurobehavioral abnormalities are variable. We did not observe o...
Source: Clinical Genetics - April 17, 2014 Category: Genetics & Stem Cells Authors: Shinawi M, Coorg R, Shimony J, Grange DK, Al-Kateb H Tags: Clin Genet Source Type: research
Presumptive cocaine toxicosis in 19 dogs: 2004–2012
ConclusionsCocaine toxicosis was infrequently suspected. Neurological signs predominated, but cardiovascular alterations were also frequently reported. Hospitalization for monitoring and supportive care is recommended given the potential for life‐threatening complications such as seizures, hypertensive crisis, and tachyarrhythmias. The prognosis for survival to hospital discharge can be good with the appropriate supportive care. (Source: Journal of Veterinary Emergency and Critical Care)
Source: Journal of Veterinary Emergency and Critical Care - April 16, 2014 Category: Veterinary Research Authors: Emily K. Thomas, Kenneth J. Drobatz, Deborah C. Mandell Tags: Retrospective Study Source Type: research
Significance of the Melanocortin 1 Receptor in the DNA Damage Response of Human Melanocytes to Ultraviolet Radiation
This article is protected by copyright. All rights reserved. (Source: Pigment Cell Research)
Source: Pigment Cell Research - April 15, 2014 Category: Cytology Authors: Viki Swope, Christina Alexander, Renny Starner, Sandy Schwemberger, George Babcock, Zalfa A. Abdel‐Malek Tags: Original Article Source Type: research
[Articles] Progression of early features of spinocerebellar ataxia type 2 in individuals at risk: a longitudinal study
Early features of SCA2 are detectable before the onset of the cerebellar syndrome, and are associated with expanded CAG repeats and the time to onset of cerebellar syndrome. These findings could aid early diagnosis and genetic counselling, and also offer physiopathological insights that could help in the implementation of clinical trials in early stages of the disease. (Source: Lancet Neurology)
Source: Lancet Neurology - April 15, 2014 Category: Neurology Authors: Luis Velázquez-Pérez, Roberto Rodríguez-Labrada, Nalia Canales-Ochoa, Jacqueline Medrano Montero, Gilberto Sánchez-Cruz, Raúl Aguilera-Rodríguez, Luis E Almaguer-Mederos, José M Laffita-Mesa Tags: Articles Source Type: research
[In Context] Tackling ataxia
Before her untimely death, just as she was poised to take over as head of the Department of Clinical Neurology at the Institute of Neurology (London, UK), Anita Harding (1952–95) was a woman of many firsts: she was the first female professor of clinical neurology in Britain; and out of her neurogenetics laboratory at the Institute of Neurology came the first description of pathogenic mitochondrial DNA mutations in Kearns-Sayre syndrome and the first report of prenatal diagnosis of NARP (neurogenic weakness, ataxia, and retinitis pigmentosa) based on mitochondrial DNA analysis. (Source: Lancet Neurology)
Source: Lancet Neurology - April 15, 2014 Category: Neurology Authors: Steven Goodrick Tags: In Context Source Type: research
[Comment] Spinocerebellar ataxia type 2: progression before diagnosis
There has been an increase in awareness that unperceived brain degeneration can precede clinical symptoms of neurodegenerative disease by several years. Many researchers believe that previous scarcity in knowledge of this process is a major reason why trials of disease-modifying treatments in patients with neurodegenerative diseases were often negative. Consequently, research into clinical neurodegeneration has changed focus towards studies of early or even preclinical disease stages, which are hoped to provide a time window for more effective therapeutic intervention. (Source: Lancet Neurology)
Source: Lancet Neurology - April 15, 2014 Category: Neurology Authors: Thomas Klockgether Tags: Comment Source Type: research
Significance of the Melanocortin 1 Receptor in the DNA Damage Response of Human Melanocytes to Ultraviolet Radiation.
This article is protected by copyright. All rights reserved. PMID: 24730569 [PubMed - as supplied by publisher] (Source: Pigment Cell and Melanoma Research)
Source: Pigment Cell and Melanoma Research - April 15, 2014 Category: Cytology Authors: Swope V, Alexander C, Starner R, Schwemberger S, Babcock G, Abdel-Malek ZA Tags: Pigment Cell Melanoma Res Source Type: research
Hypergonadotropic hypogonadism and hypersegmented neutrophils in a patient with ataxia‐telangiectasia‐like disorder: Potential diagnostic clues?
In conclusion, when assessing patients with ataxia of unknown cause, ATLD should be considered, and the gonadal state and peripheral blood smear samples evaluated. © 2014 Wiley Periodicals, Inc. (Source: American Journal of Medical Genetics Part A)
Source: American Journal of Medical Genetics Part A - April 14, 2014 Category: Genetics & Stem Cells Authors: Takeshi Yoshida, Tomonari Awaya, Minoru Shibata, Takeo Kato, Hironao Numabe, Junya Kobayashi, Kenshi Komatsu, Toshio Heike Tags: Clinical Report Source Type: research
The use of a trained dog as a gait aid for clients with ataxia: a case report.
Conclusion: Trained dogs may represent an innovative and positive alternative for mobility for people with ataxia, improving both physical and psychosocial parameters. Assistance dogs seem to be a suitable gait aid, since they facilitate ambulation, promoting independent mobility. PMID: 24719506 [PubMed] (Source: Physiotherapy Canada)
Source: Physiotherapy Canada - April 14, 2014 Category: Physiotherapy Authors: Abbud G, Janelle C, Vocos M Tags: Physiother Can Source Type: research
DNA-PKcs is required to maintain stability of Chk1 and Claspin for optimal replication stress response
The ataxia telangiectasia mutated and Rad3-related (ATR)-checkpoint kinase 1 (Chk1) axis is the major signaling pathway activated in response to replication stress and is essential for the intra-S checkpoint. ATR phosphorylates and activates a number of molecules to coordinate cell cycle progression. Chk1 is the major effector downstream from ATR and plays a critical role in intra-S checkpoint on replication stress. Activation of Chk1 kinase also requires its association with Claspin, an adaptor protein essential for Chk1 protein stability, recruitment and ATR-dependent Chk1 phosphorylation. We have previously reported tha...
Source: Nucleic Acids Research - April 14, 2014 Category: Research Authors: Lin, Y.-F., Shih, H.-Y., Shang, Z., Matsunaga, S., Chen, B. P. Tags: Genome Integrity, Repair and Replication Source Type: research
Low-dose acetazolamide reverses periventricular white matter hyperintensities in iNPH
Conclusions: These preliminary findings provide new evidence that low-dose acetazolamide can reduce PVH and may improve gait in iNPH. PVH volume, reflecting transependymal CSF, is shown to be a potential MRI indicator of pharmacologic intervention effectiveness. Further studies of pharmacologic treatment of iNPH are needed and may be enhanced by incorporating quantitative MRI outcomes. Classification of evidence: This study provides Class IV evidence that low-dose acetazolamide reverses PVH volume and, in some cases, improves gait in iNPH. (Source: Neurology)
Source: Neurology - April 14, 2014 Category: Neurology Authors: Alperin, N., Oliu, C. J., Bagci, A. M., Lee, S. H., Kovanlikaya, I., Adams, D., Katzen, H., Ivkovic, M., Heier, L., Relkin, N. Tags: Volumetric MRI, Gait disorders/ataxia, Class IV ARTICLE Source Type: research
Abnormal retinal thickening is a common feature among patients with ARSACS-related phenotypes
Autosomal-recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) was first described among French Canadian patients from Québec presenting with a stereotypical triad of early-onset cerebellar ataxia, spastic paraplegia and peripheral neuropathy. Two recurring pathogenic mutations in the SACS gene were subsequently identified in these families in keeping with a mutational founder event in a geographically isolated population.1 However, ARSACS is being increasingly recognised worldwide as an important cause of inherited ataxia.2 Interestingly, non-Québec patients can show strikingly variable features marked b...
Source: British Journal of Ophthalmology - April 12, 2014 Category: Opthalmology Authors: Yu-Wai-Man, P., Pyle, A., Griffin, H., Santibanez-Korev, M., Horvath, R., Chinnery, P. F. Tags: Open access Letters Source Type: research
Alterations in cerebellar physiology are associated with a stiff-legged gait in Atcay(ji-hes) mice.
Abstract Recent evidence suggests that dystonia, a movement disorder characterized by sustained involuntary muscle contractions, can be associated with cerebellar abnormalities. The basis for how functional changes in the cerebellum can cause dystonia is poorly understood. Here we identify alterations in physiology in Atcay(ji-hes) mice which in addition to ataxia, have an abnormal gait with hind limb extension and toe walking, reminiscent of human dystonic gait. No morphological abnormalities in the brain accompany the dystonia, but partial cerebellectomy causes resolution of the stiff-legged gait, suggesting that...
Source: Neurobiology of Disease - April 12, 2014 Category: Neurology Authors: Luna-Cancalon K, Sikora KM, Pappas SS, Singh V, Wulff H, Paulson HL, Burmeister M, Shakkottai VG Tags: Neurobiol Dis Source Type: research
ATM Increases Activation-Induced Cytidine Deaminase Activity at Downstream S Regions during Class-Switch Recombination.
Abstract Activation-induced cytidine deaminase (AID) initiates Ab class-switch recombination (CSR) in activated B cells resulting in exchanging the IgH C region and improved Ab effector function. During CSR, AID instigates DNA double-strand break (DSB) formation in switch (S) regions located upstream of C region genes. DSBs are necessary for CSR, but improper regulation of DSBs can lead to chromosomal translocations that can result in B cell lymphoma. The protein kinase ataxia telangiectasia mutated (ATM) is an important proximal regulator of the DNA damage response (DDR), and translocations involving S regions are...
Source: Journal of Immunology - April 11, 2014 Category: Allergy & Immunology Authors: Khair L, Guikema JE, Linehan EK, Ucher AJ, Leus NG, Ogilvie C, Lou Z, Schrader CE, Stavnezer J Tags: J Immunol Source Type: research
Experts disagree on horses with incoordination
At least one in 100 horses at some point in its life will lose the ability to control its gait as a result of developing the neurological disorder ataxia. Once found to be ataxic, the horse is often put down, or undergoes an expensive operation with dubious results. But now researchers have shown that there is marked disagreement among veterinary surgeons about whether or not a horse is ataxic. (Source: ScienceDaily Headlines)
Source: ScienceDaily Headlines - April 10, 2014 Category: Science Source Type: news
Experts disagree on horses with incoordination
(University of Copenhagen) At least one in 100 horses at some point in its life will lose the ability to control its gait as a result of developing the neurological disorder ataxia. Once found to be ataxic, the horse is often put down, or undergoes an expensive operation with dubious results. But now researchers from the University of Copenhagen and the Royal Veterinary College in the UK have shown that there is marked disagreement among veterinary surgeons about whether or not a horse is ataxic. (Source: EurekAlert! - Biology)
Source: EurekAlert! - Biology - April 10, 2014 Category: Biology Source Type: news
A 58 Year‐Old Male with Hallucinations and Ataxia
(Source: Brain Pathology)
Source: Brain Pathology - April 10, 2014 Category: Neurology Authors: Yee Lin Tang, Wai Hoe Ng, Yih Yian Sitoh, Hwei Yee Lee, Wai Ming Yap, Khoon Leong Chuah Tags: CASE OF MONTH JANUARY 2014 Source Type: research
Time-Dependent Structural Changes of the Dentatothalamic Pathway in Children Treated for Posterior Fossa Tumor [PEDIATRICS]
CONCLUSIONS: Longitudinal diffusion MR imaging in children treated for posterior fossa tumors showed time-dependent tensor changes in components of the dentatothalamic pathway that suggest evolution of structural damage with inflammation and recovery of tissue directionality. However, the dentate nuclei did not show tensor or volumetric recovery, suggesting that the injury may be chronic. (Source: American Journal of Neuroradiology)
Source: American Journal of Neuroradiology - April 10, 2014 Category: Radiology Authors: Perreault, S., Lober, R. M., Cheshier, S., Partap, S., Edwards, M. S., Yeom, K. W. Tags: PEDIATRICS Source Type: research
Autosomal-recessive cerebellar ataxia caused by a novel ADCK3 mutation that elongates the protein: clinical, genetic and biochemical characterisation
Conclusion This study highlights the importance of diagnosing ADCK3 mutations and the potential benefit of treatment for patients. The identification of this new mutation broadens the phenotypic spectrum associated with ADCK3 mutations and provides further understanding of their pathogenic mechanism. (Source: Journal of Neurology, Neurosurgery and Psychiatry)
Source: Journal of Neurology, Neurosurgery and Psychiatry - April 10, 2014 Category: Neurosurgery Authors: Liu, Y.-T., Hersheson, J., Plagnol, V., Fawcett, K., Duberley, K. E. C., Preza, E., Hargreaves, I. P., Chalasani, A., Laura, M., Wood, N. W., Reilly, M. M., Houlden, H. Tags: Open access, Genetics, Brain stem / cerebellum, Drugs: CNS (not psychiatric) Neurogenetics Source Type: research
N-hydroxycinnamide derivatives of osthole inhibit cell migration and invasion by suppressing Smad2 and Akt pathways in human colorectal adenocarcinoma cells.
In this study, we determined that WJ1376-1 and WJ1398-1 strongly inhibited the migration and invasion in human colorectal cancer cells at concentrations as low as 1 μM. In the transforming growth factor (TGF)-β-induced epithelial-mesenchymal transition model, WJ1376-1 and WJ1398-1 potently downregulated the transcription factor Snail1, the mesenchymal protein vimentin, and matrix metalloprotease-9, but upregulated the epithelial protein E-cadherin. WJ1376-1 and WJ1398-1 also inhibited the TGF-β-induced phosphorylation of Smad2 and of Akt at Ser 473, and the nuclear translocation of Smad2 was substantially lower in WJ137...
Source: Chemico-Biological Interactions - April 10, 2014 Category: Molecular Biology Authors: Liu LY, Huang WJ, Ho FM, Lin RJ, Lin SY, Suk FM, Liang YC Tags: Chem Biol Interact Source Type: research
Postural Stability in Cigarette Smokers and During Abstinence from Alcohol
ConclusionsChronic smoking was associated with reduced static postural stability with eyes closed and with lower increases of postural stability during abstinence from alcohol. Smoking cessation in alcohol dependence treatment may facilitate recovery from static postural instability during abstinence. (Source: Alcoholism: Clinical and Experimental Research)
Source: Alcoholism: Clinical and Experimental Research - April 9, 2014 Category: Addiction Authors: Thomas P. Schmidt, David L. Pennington, Timothy C. Durazzo, Dieter J. Meyerhoff Tags: Original Article Source Type: research
Epigenetic Therapy for Friedreich's Ataxia: A Phase I Clinical Trial (PL1.003)
CONCLUSIONSThis study provides proof of principal for orally administered class I HDAC inhibitor as potential therapeutics for Friedreich’s ataxia.Study Supported by: Repligen Corporation, GoFAR and EFACTSDisclosure: Dr. Jacoby has received personal compensation for activities with Repligen and BioMarin as an employee. Dr. Rusche has received personal compensation for activities with Repligen Corp. Dr. Rusche holds stock and/or stock options in Repligen Corp. which sponsored research in which Dr. Rusche was involved as an investigator. Dr. Rusche has received research support from Repligen Corp. Dr. Iudicello has not...
Source: Neurology - April 9, 2014 Category: Neurology Authors: Jacoby, D., Rusche, J., Iudicello, M., De Mercanti, S., Clerico, M., Gibbin, M., Longo, F., Miao, W., Rai, M., Piga, A., Pandolfo, M., Durelli, L. Tags: Contemporary Clinical Issues Plenary Session Source Type: research
Paraneoplastic Cerebellar Degeneration with Castleman Disease: A Case Report (P1.027)
CONCLUSIONS: Although a specific autoantibody was not identified, the rarity of both Castleman disease and cerebellar degeneration, in conjunction with the well-described neoplastic and paraneoplastic associations of both, strongly suggests a relationship not previously described.Disclosure: Dr. Lee has nothing to disclose. Dr. Le has nothing to disclose. (Source: Neurology)
Source: Neurology - April 9, 2014 Category: Neurology Authors: Lee, S., Le, S. Tags: General Neurology I Source Type: research
A Case of Paraneoplastic Cerebellar Degeneration Associated with Non-Cutaneous Metastastic Merkel Cell Carcinoma (P1.036)
CONCLUSIONS: This case shows that Merkel cell tumors may be associated with voltage-gated calcium channel autoantibodies, which may be associated with paraneoplastic cerebellar degeneration. Abrupt onset of cerebellar symptoms warrants a careful evaluation for malignancy. Testing for a panel of autoantibodies may assist with diagnosis, and may prompt surveillance for particular tumors. Treatment with tumor resection and Rituximab may improve symptoms.Study Supported by: NoneDisclosure: Dr. Zhang has nothing to disclose. Dr. Lancaster has nothing to disclose. (Source: Neurology)
Source: Neurology - April 9, 2014 Category: Neurology Authors: Zhang, C., Lancaster, E. Tags: General Neurology I Source Type: research
ATAXIN-2 (ATXN2) Regulates RGS8 Expression Via RNA Interaction (P1.045)
CONCLUSIONS: Mutant ATXN2 reduced RGS8 mRNA steady-state levels, and RGS protein levels to an even greater extent. As we showed interaction of ATXN2 and RGS8 mRNA, our data support a role for ATXN2 in mRNA translation. As knockout of the related RGS6 causes severe ataxia in mice, our results implicate RGS family members in the pathogenesis of polyQ-mediated neurodegeneration in SCA2 and point to new therapeutic targets. Study Supported by: Grants RO1NS33123 and RC4NS073009 from the National Institutes of Neurological Disorders and Stroke to SMP.Disclosure: Dr. Paul has nothing to disclose. Dr. Dansithong has nothing to dis...
Source: Neurology - April 9, 2014 Category: Neurology Authors: Paul, S., Dansithong, W., Pulst, S. Tags: Movement Disorders: Basic Mechanisms Source Type: research
Sodium-Potassium ATPase Inhibitors as Inhibitors of ATXN2 Expression (P1.046)
CONCLUSIONS:A qHTS screen identified several compounds belonging to a class of drugs inhibiting Na,K-ATPase that downregulated ATXN2 at doses not effecting cell viability. This link, which may act via intracellular calcium was confirmed by overexpressing Na,K-ATPase resulting in increased ATXN2 expression. Low levels of cardiac glycoside may be able to ameliorate neurodegeneration in SCA2.Support:This work was supported by National Institutes of Health grants RC4NS073009, R01NS033123, R21NS081182, and U54MH084681.Disclosure: Dr. Scoles has nothing to disclose. Dr. Pflieger has nothing to disclose. Dr. Dexheimer has nothing...
Source: Neurology - April 9, 2014 Category: Neurology Authors: Scoles, D., Pflieger, L., Dexheimer, T., Maloney, D., Simeonov, A., Jadhav, A., Pulst, S. Tags: Movement Disorders: Basic Mechanisms Source Type: research
Familial Amyotrophic Lateral Sclerosis with Novel p62 Immunopositive Intra-Neuronal Nuclear and Axonal Spheroid Inclusions (P1.052)
CONCLUSIONS: We describe novel pathological findings in a clinically well-delineated case of fALS. The remarkable features include p62 immunopositive inclusions within neuronal nuclei and axonal spheroids that fail to label with known ALS related proteins.Disclosure: Dr. Schneider has nothing to disclose. Dr. Diamandis has nothing to disclose. Dr. Zinman has nothing to disclose. Dr. Rogaeva has nothing to disclose. Dr. Robertson has nothing to disclose. Dr. Keith has nothing to disclose. (Source: Neurology)
Source: Neurology - April 9, 2014 Category: Neurology Authors: Schneider, R., Diamandis, P., Zinman, L., Rogaeva, E., Robertson, J., Keith, J. Tags: Neuromuscular Disease: Basic Science Source Type: research
Predictive Equations To Muscle Mass Volume In Patients With Spinocerebellar Ataxia (P2.030)
CONCLUSIONS: The results demonstrated that the anthropometric data are suitable for estimating muscle mass of SCA patients, as well as for assessing and monitoring their muscular impairment.Study Supported by:Disclosure: Dr. Leite has nothing to disclose. Dr. Macedo has nothing to disclose. Dr. Schieferdecker has nothing to disclose. Dr. Vilela has nothing to disclose. Dr. Teive has nothing to disclose. Dr. Moro has nothing to disclose. (Source: Neurology)
Source: Neurology - April 9, 2014 Category: Neurology Authors: Leite, C., Macedo, D., Schieferdecker, M., Vilela, R., Teive, H., Moro, A. Tags: Movement Disorders: Friedreich ' s and Other Inherited Ataxias Source Type: research
Clinical and Genetic Profile of Brazilian Patients with Late-Onset Friedreich's Ataxia (P2.031)
CONCLUSIONS:LOFA accounts for 14.5% of Brazilian FRDA patients. Remarkable pyramidal signs and rare skeletal deformities could distinguish LOFA from cFRDA. This unusual phenotype often makes LOFA diagnosis challenging, so that clinicians should be aware of this FRDA variant.Study Supported by:Disclosure: Dr. Martinez has nothing to disclose. Dr. Borges has nothing to disclose. Dr. Silva has nothing to disclose. Dr. Moro has nothing to disclose. Dr. Rezende has nothing to disclose. Dr. Moscovich has nothing to disclose. Dr. Munhoz has nothing to disclose. Dr. Arruda has nothing to disclose. Dr. Karuta has nothing to disclos...
Source: Neurology - April 9, 2014 Category: Neurology Authors: Martinez, A., Borges, C., Bonilha Da Silva, C., Moro, A., Rezende, T., Moscovich, M., Munhoz, R., Arruda, W., Karuta, S., D'Abreu, A., Lopes-Cendes, I., Franca, M., Teive, H. Tags: Movement Disorders: Friedreich ' s and Other Inherited Ataxias Source Type: research
Disruption of Binaural Hearing in Spinocerebellar Ataxia Type 13 (P2.032)
CONCLUSIONS: Disruption of sensitivity to inter-aural differences demonstrates the importance of the Kv3.3 channel subtype for the specific task of high-acuity comparison of signals from the two ears. Individuals with ITD and ILD thresholds as high as those observed likely suffer deficits in sound localization and in spatial release from masking.FundingNIDCD RO1 DC000420 (JCM), NINDS K23 NS054715 (MFW)Disclosure: Dr. Waters has nothing to disclose. Dr. Nick has nothing to disclose. Dr. Subramony has received personal compensation for activities with Athena Diagnostics as a speaker. Dr. Advincula has nothing to disclose. Dr...
Source: Neurology - April 9, 2014 Category: Neurology Authors: Waters, M., Nick, H., Subramony, S., Advincula, J., Rosales, R., Lee, L., Ashizawa, T., John, M. Tags: Movement Disorders: Friedreich ' s and Other Inherited Ataxias Source Type: research
'Pseudo-dominant' Inheritance in Friedreich's Ataxia: Clinical and Genetic Study of a Brazilian Family (P2.033)
Conclusions: The family presented is a relatively rare observation of pseudodominant inheritance of FRDA, which provided the opportunity to investigate the molecular basis of intra-familial clinical polymorphism of this disease.Disclosure: Dr. Moro has nothing to disclose. Dr. Martinez has nothing to disclose. Dr. Moscovich has nothing to disclose. Dr. Karuta has nothing to disclose. Dr. Munhoz has nothing to disclose. Dr. Arruda has nothing to disclose. Dr. Raskin has nothing to disclose. Dr. Germiniani has nothing to disclose. Dr. Teive has nothing to disclose. (Source: Neurology)
Source: Neurology - April 9, 2014 Category: Neurology Authors: Moro, A., Martinez, A., Moscovich, M., Karuta, S., Munhoz, R., Arruda, W., Raskin, S., Germiniani, F., Teive, H. Tags: Movement Disorders: Friedreich ' s and Other Inherited Ataxias Source Type: research
Neurodevelopmental Defects In Spinocerebellar Ataxia Type 13 Linked To The EGF-R Signaling Pathway (P2.034)
CONCLUSIONS: Our results indicate maldevelopment in Drosophila eyes and wings due to expression of p.Arg423His, with suggested involvement of the EGF-R signaling pathway. Further studies will determine rescues of the mutant phenotype investigating additional components of the EGF-R pathway along with the underlying biochemical effects.Disclosure: Dr. Khare has nothing to disclose. Dr. Salmasinia has nothing to disclose. Dr. Arbelaez has nothing to disclose. Dr. Nick has nothing to disclose. Dr. Rincon-Limas has nothing to disclose. Dr. Nick has nothing to disclose. Dr. Fernandez-Funez has nothing to disclose. Dr. Waters ha...
Source: Neurology - April 9, 2014 Category: Neurology Authors: Khare, S., Salmasinia, D., Arbelaez, D., Nick, J., Rincon-Limas, D., Nick, H., Fernandez-Funez, P., Waters, M. Tags: Movement Disorders: Friedreich ' s and Other Inherited Ataxias Source Type: research
When Should We Test Patients With Familial Ataxias For SCA31? (P2.035)
CONCLUSIONS:Patients with pure cerebellar symptoms and late onset familial ataxia from Japanese ancestry, with negative test for SCA6, should be tested for SCA31.Study Supported by:Fundação de Amparo à Pesquisa do Estado de São Paulo, FAPESP2012/17494-3Disclosure: Dr. Abrahao Junior has nothing to disclose. Dr. Pedroso has nothing to disclose. Dr. Ishikawa has nothing to disclose. Dr. Raskin has nothing to disclose. Dr. Sgobbi de Souza has nothing to disclose. Dr. Mizusawa has received personal compensation for activities with Tanabemitsubishi Co and Sanofi-Aventis Pharmaceuticals Inc. Dr. Mizus...
Source: Neurology - April 9, 2014 Category: Neurology Authors: Abrahao Junior, A., Pedroso, J., Ishikawa, K., Raskin, S., Sgobbi de Souza, P., Mizusawa, H., Barsottini, O. Tags: Movement Disorders: Friedreich ' s and Other Inherited Ataxias Source Type: research
Children with Friedreich Ataxia Undergoing Spinal Fusion Are at Risk for Arrhythmias (P2.037)
CONCLUSIONS: Scoliosis surgery is common amongst hospitalized children with FA, but these comprise a small proportion of all children who undergo spinal fusion. Arrhythmias are more common in FA children undergoing spinal fusion; other comorbidities are similar to non-FA children. FA does not affect length of stay, mean hospital charges, and overall mortality in hospitalizations involving spinal fusion. The increased burden of arrhythmias in FA supports cardiac assessment for children with FA and scoliosis.Disclosure: Dr. Lin has nothing to disclose. Dr. Lynch has received personal compensation for activities with Retrotap...
Source: Neurology - April 9, 2014 Category: Neurology Authors: Lin, K., Lynch, D., Flynn, J., Rossano, J. Tags: Movement Disorders: Friedreich ' s and Other Inherited Ataxias Source Type: research
Assessing the Feasibility of Quantitative Gait Analysis as an Outcome Measure for Clinical Trials in Spinocerebellar Ataxias (P2.038)
CONCLUSIONS: Quantitative gait analysis shows high test-retest reliability suggesting potential utility as an outcome measure for clinical trials in the spinocerebellar ataxias. Disclosure: Dr. Morita has nothing to disclose. Dr. Vincent has nothing to disclose. Dr. Hack has nothing to disclose. Dr. Conrad has nothing to disclose. Dr. Ashizawa has received royalty payments from Baylor College of Medicine. Dr. Subramony has received personal compensation for activities with Athena Diagnostics as a speaker. Dr. Xia has nothing to disclose. (Source: Neurology)
Source: Neurology - April 9, 2014 Category: Neurology Authors: Morita, H., Vincent, H., Hack, N., Conrad, B., Ashizawa, T., Subramony, S., Xia, G. Tags: Movement Disorders: Friedreich ' s and Other Inherited Ataxias Source Type: research
Meta-Analysis of ALS Risk for Ataxin-2 (SCA2) CAG Repeat Alleles (P2.070)
CONCLUSION: In contrast to prior studies with smaller numbers, ATXN2 alleles with 27 to 29 repeats did not increase ALS risk. It is possible that 30 repeats may increase ALS risk slightly. Risk associated with 31-33 repeats was significant. Of note, these allele sizes are also known to be predisposed to meiotic expansion to full penetrance mutant alleles and it is possible that in patients with ALS alleles with 31 to 33 repeats undergo preferential mitotic expansion in motor neurons. Our meta-analysis provides a framework for counseling of individuals with long normal ATXN2 repeats.Disclosure: Dr. Neuenschwander has nothin...
Source: Neurology - April 9, 2014 Category: Neurology Authors: Neuenschwander, A., Thai, K., Figueroa, K., Pulst, S. Tags: ALS: Genetics and Outcomes Source Type: research
Lack of AGG Interruptions in FMR1 is Associated with Cognitive Impairment (P2.145)
CONCLUSIONS: AGG analysis is now used to determine unstable FMR1 alleles and those at greatest risk for expansion. These results suggest that there may be an association between a loss of AGG interruptions and cognitive impairment.Study Supported by: K23NS052487 (DH), R01NS082416 (DH), AG010161 (DB)Disclosure: Dr. Hall has received research support from Pfizer, Inc. Dr. Kaytser has nothing to disclose. Dr. Shah has received research support from Danone Research B.V., Eisai Inc., Merck & Co. Inc., Metabolic Solutions Development Company, Pamlab LLC, and Pfizer, Inc. Dr. Bennett has received personal compensation for act...
Source: Neurology - April 9, 2014 Category: Neurology Authors: Hall, D., Kaytser, V., Shah, R., Bennett, D., Berry-Kravis, E. Tags: Aging, Dementia, and Cognitive and Behavioral Neurology: Genetics Source Type: research
HDLS Family Case Showing X-Linked Recessive Heredity (P2.151)
CONCLUSIONS:HDLS does not show 100% penetrance. It is possible that a carrier of HDLS causing mutation does not have any neurological symptoms.Disclosure: Dr. Kowa has nothing to disclose. Dr. Uenaka has nothing to disclose. Dr. Ueda has nothing to disclose. Dr. Matsukawa has nothing to disclose. Dr. Tsuji has nothing to disclose. Dr. Kanda has nothing to disclose. Dr. Toda has nothing to disclose. (Source: Neurology)
Source: Neurology - April 9, 2014 Category: Neurology Authors: Kowa, H., Uenaka, T., Ueda, T., Matsukawa, T., Tsuji, S., Kanda, F., Toda, T. Tags: Aging, Dementia, and Cognitive and Behavioral Neurology: Genetics Source Type: research
Diffuse Lewy Body Disease and Associated Balint's Syndrome: A Case Series (P2.163)
CONCLUSIONS:Given the pathologic overlap between the potential areas of deposition of Lewy Bodies in DLBD and the bilateral areas affected to elicit the symptoms of Balint’s Syndrome, the four cases we present suggest a possible concominant relationship between the presence of Diffuse Lewy Body Disease and the development of Balint’s Syndrome. If a diagnosis of Diffuse Lewy Body Disease is being considered, possibly the presence of Balint’s Syndrome symptoms could aid in confirming a diagnosis. Hopefully this case series will open a dialogue into this underreported co-presentation of two pathologically si...
Source: Neurology - April 9, 2014 Category: Neurology Authors: Falconer, R., Rogers, S., Amjad, F., Osborne, B. Tags: Aging, Dementia, and Cognitive and Behavioral Neurology: General Cognition Source Type: research
Transient Punctuate Gadolinium-Enhancing Lesions Preceding Natalizumab-Associated Progressive Multifocal Leukoencephalopathy (PML) (P2.246)
CONCLUSIONThis case illustrates that gadolinium-enhancing lesions, even when transient and in the absence of T2 signal changes, might be the first manifestation of PML infection. We recommend gadolinium-enhanced T1-weighted imaging in addition to other MRI sequences to detect PML in MS patients under natalizumab.Disclosure: Dr. Castelnovo has nothing to disclose. Dr. Thouvenot has received personal compensation for activities with Teva Neuroscience as a scientific advisory board member, and with Biogen Idec and Novartis as a speaker. Dr. Renard has nothing to disclose. Dr. Taieb has nothing to disclose. (Source: Neurology)
Source: Neurology - April 9, 2014 Category: Neurology Authors: Castelnovo, G., Thouvenot, E., Renard, D., Taieb, G. Tags: MS and CNS Inflammatory Disease: Progressive Multifocal Leukoencephalopathy Risk Source Type: research
Oculomotor Dysfunction Due To Idiopathic Intracranial Hypertension And Thiamine Deficiency (P2.302)
Conclusions:Idiopathic intracranial hypertension and Thiamine deficiency are well known to cause oculomotor dysfunction. Most patients with IIH will have significant nausea and vomiting and are prone to develop vitamin deficiencies. Measuring thiamine levels can help us diagnose and treat Wernicke’s encephalopathy and prevent significant morbidity.Disclosure: Dr. Srikanth-Mysore has nothing to disclose. Dr. Marky has nothing to disclose. (Source: Neurology)
Source: Neurology - April 9, 2014 Category: Neurology Authors: Srikanth-Mysore, C., Marky, B. Tags: Neuro-ophthalmology/Neuro-otology I Source Type: research
First Case of Familial Creutzfeldt - Jakob Disease Associated with E200K Mutation in Peru: A Case Report (P2.308)
CONCLUSIONS:This is the first case with genetic confirmation of E200K mutation for familial CJD in Peru.Disclosure: Dr. Eskenazi has nothing to disclose. (Source: Neurology)
Source: Neurology - April 9, 2014 Category: Neurology Authors: Eskenazi, J. Tags: CNS Infectious Disease: Miscellaneous Source Type: research
The European Union Is Worth Saving (P3.040)
CONCLUSIONS:We describe a patient with a novel CSF1R mutation and the benefit of international links.Study Supported by: Disclosure: Dr. Hoeritzauer has nothing to disclose. Dr. McDonnell has nothing to disclose. Dr. Van Der Knaap has nothing to disclose. (Source: Neurology)
Source: Neurology - April 9, 2014 Category: Neurology Authors: Hoeritzauer, A., McDonnell, G., Van Der Knaap, M. Tags: General Neurology II Source Type: research
Interim Efficacy and Safety Analysis of Adjunctive Perampanel in the Adolescent Population from the Extension Phase of 3 Double-Blind, Placebo-Controlled, Phase 3 (Core) Studies in Patients with Refractory Partial-Onset Seizures (P3.271)
CONCLUSIONS: Long-term treatment with perampanel maintained improvements in seizure control compared with baseline in adolescents with refractory partial seizures. Perampanel was well-tolerated and demonstrated a favorable risk/benefit profile.Study Supported by: Eisai Inc.Disclosure: Dr. Renfroe has received personal compensation for activities with Cyberonics. Dr. Renfroe has received research support from Allergan Inc., UCB Pharma, Eisai Inc., GlaxoSmithKline Inc., and Sepracor. Dr. Yang has received personal compensation for activities with Eisai, Inc. Dr. Williams has received personal compensation for activities with...
Source: Neurology - April 9, 2014 Category: Neurology Authors: Renfroe, B., Yang, H., Williams, B., Huang, S., Laurenza, A. Tags: Epilepsy and Clinical Neurophysiology: AED Source Type: research