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The Cuban program for predictive testing of SCA2: 11 years and 768 individuals to learn from.
Abstract Having reported the world's highest prevalence of spinocerebellar ataxia type 2 (SCA2), health professionals in Cuba developed a program for the predictive testing of this condition. Between February 2001 and December 2011, a total of 1050 individuals requested their inclusion in the presymptomatic testing (PST) program. Their medical records were retrospectively analyzed in the present descriptive study. A total of 768 participants completed the protocol, 204 withdrew and 78 were excluded. The PST uptake was 24.91%. Females predominated and 70.96% had negative test results. Their main motivations were ris...
Source: Clinical Genetics - May 22, 2013 Category: Genetics & Stem Cells Authors: Cruz-Mariño T, Velázquez-Pérez L, González-Zaldivar Y, Aguilera-Rodríguez R, Velázquez-Santos M, Vázquez-Mojena Y, Estupiñán-Rodríguez A, Laffita-Mesa J, Reynaldo-Armiñán R, Almaguer-Mederos L, Paneque M Tags: Clin Genet Source Type: research
Ataxia-related Plekhg4 Activates Rho GTPases [Signal Transduction]
We report here that expression of Plekhg4 in the murine brain is developmentally regulated, with pronounced expression in the newborn midbrain and brainstem that wanes with age and maximal expression in the cerebellar Purkinje neurons in adulthood. We show that Plekhg4 is subject to ubiquitination and proteasomal degradation, and its steady-state expression levels are regulated by the chaperones Hsc70 and Hsp90 and by the ubiquitin ligase CHIP. On the functional level, we demonstrate that Plekhg4 functions as a bona fide guanine nucleotide exchange factor (GEF) that facilitates activation of the small GTPases Rac1, Cdc42, ...
Source: Journal of Biological Chemistry - May 17, 2013 Category: Chemistry Authors: Gupta, M., Kamynina, E., Morley, S., Chung, S., Muakkassa, N., Wang, H., Brathwaite, S., Sharma, G., Manor, D. Tags: Neurobiology Source Type: research
A nervous predisposition to unrepaired DNA double strand breaks.
Abstract Ataxia-telangiectasia (A-T) has for a long time stood apart from most other human neurodegenerative syndromes by the characteristic failure of cells derived from these patients to properly repair DNA damage-induced by ionizing radiation. The discovery of mutations in the ATM gene as being the underlying cause for A-T and the demonstration that the ATM protein functions as a DNA damage-responsive kinase has defined current research focusing on decoding how the cell responds to genotoxic stress. Yet, despite significant advances in delineating the cellular DNA damage response pathways coordinated by ATM, ver...
Source: DNA Repair - May 16, 2013 Category: Genetics & Stem Cells Authors: Reynolds JJ, Stewart GS Tags: DNA Repair (Amst) Source Type: research
Acute cerebellar ataxia in a pediatric case of Lyme disease and a review of literature, 407 Acute disseminated encephalomyelitis associated with acute Toxoplasma gondii infection, 236 (Source: Pediatric Neurology)
Source: Pediatric Neurology - May 15, 2013 Category: Neurology Source Type: research
Inherited Cerebellar Ataxia in Childhood: A Pattern-Recognition Approach Using Brain MRI [REVIEW ARTICLES]
SUMMARY: Ataxia is the principal symptom of many common neurologic diseases in childhood. Ataxias caused by dysfunction of the cerebellum occur in acute, intermittent, and progressive disorders. Most of the chronic progressive processes are secondary to degenerative and metabolic diseases. In addition, congenital malformation of the midbrain and hindbrain can also be present, with posterior fossa symptoms related to ataxia. Brain MR imaging is the most accurate imaging technique to investigate these patients, and imaging abnormalities include size, shape, and/or signal of the brain stem and/or cerebellum. Supratentorial an...
Source: American Journal of Neuroradiology - May 15, 2013 Category: Radiology Authors: Vedolin, L., Gonzalez, G., Souza, C. F., Lourenco, C., Barkovich, A. J. Tags: REVIEW ARTICLES Source Type: research
Microstructural Integrity of Cerebral Fiber Tracts in Hereditary Spastic Paraparesis with SPG11 Mutation [BRAIN]
CONCLUSIONS: There was a characteristic gradation in the reduction of microstructural integrity among fiber types and within the CC in patients with the SPG11 mutation. The dying-back process in CST might explain the pathogenic mechanisms for ARHSP-TCC. (Source: American Journal of Neuroradiology)
Source: American Journal of Neuroradiology - May 15, 2013 Category: Radiology Authors: Pan, M.- K., Huang, S.- C., Lo, Y.- C., Yang, C.-C., Cheng, T.- W., Yang, C.-C., Hua, M.- S., Lee, M.- J., Tseng, W.- Y. I. Tags: BRAIN Source Type: research
Disease-In-A-Dish Models Show Promise For Treating Ataxia Telangiectasia
Led by Dr. Peiyee Lee and Dr. Richard Gatti, researchers at the Eli and Edythe Broad Center of Regenerative Medicine and Stem Cell Research at UCLA have used induced pluripotent stem (iPS) cells to advance disease-in-a-dish modeling of a rare genetic disorder, ataxia telangiectasia (A-T). Their discovery shows the positive effects of drugs that may lead to effective new treatments for the neurodegenerative disease. iPS cells are made from patients' skin cells, rather than from embryos, and they can become any type of cells, including brain cells, in the laboratory... (Source: Health News from Medical News Today)
Source: Health News from Medical News Today - May 14, 2013 Category: Consumer Health News Tags: Neurology / Neuroscience Source Type: news
Mutations In Genes That Regulate Cellular Metabolism Found In Families With Ataxia, Dementia And Reproductive Failure
Researchers from Massachusetts General Hospital (MGH) and Duke University have identified genetic mutations that appear to underlie a rare but devastating syndrome combining reproductive failure with cerebellar ataxia - a lack of muscle coordination - and dementia. In a paper that will appear in the May 23 New England Journal of Medicine and is receiving early online release, the investigators describe finding mutations in one or both of two genes involved in a cellular process called ubiquitination in affected members of five unrelated families... (Source: Health News from Medical News Today)
Source: Health News from Medical News Today - May 13, 2013 Category: Consumer Health News Tags: Neurology / Neuroscience Source Type: news
The role of ATM and DNA damage in neurons: Upstream and downstream connections.
Abstract ATM (ataxia-telangiectasia mutated) is a large protein kinase whose best-known function is as a participant in the process of DNA damage repair, specifically lesions that result in double strand breaks. In the cells of the nervous system, however, the symptoms of children with ataxia-telangiectasia and the phenotypes of mice with engineered mutations in their ATM gene argue for a broader range of protein functions. ATM is now appreciated to play a role in vesicle dynamics as well as in the maintenance of the epigenetic code of histone modifications. Finally, the decline of ATM levels with age suggest that ...
Source: DNA Repair - May 13, 2013 Category: Genetics & Stem Cells Authors: Herrup K, Li J, Chen J Tags: DNA Repair (Amst) Source Type: research
UCLA stem cell researchers move toward treatment for rare genetic nerve disease
Led by Dr. Peiyee Lee and Dr. Richard Gatti, researchers at the Eli and Edythe Broad Center of Regenerative Medicine and Stem Cell Research at UCLA have used induced pluripotent stem (iPS) cells to advance disease-in-a-dish modeling of a rare genetic disorder, ataxia telangiectasia (A-T). Their discovery shows the positive effects of drugs that may lead to effective new treatments for the neurodegenerative disease. iPS cells are made from patients' skin cells, rather than from embryos, and they can become any type of cells, including brain cells, in the laboratory. The study appears online ahead of print in the jour...
Source: UCLA Newsroom: Health Sciences - May 10, 2013 Category: Universities & Medical Training Source Type: news
UCLA stem cell researchers move toward treatment for rare genetic nerve disease
(University of California - Los Angeles) UCLA researchers at the Eli and Edythe Broad Center of Regenerative Medicine and Stem Cell Research have used induced pluripotent stem cells (iPSC) to advance disease-in-a-dish modeling of a rare genetic disorder, ataxia telangiectasia. Their discovery shows positive effects of drugs that may lead to effective new treatments for the neurodegenerative disease. iPSC are made from patient skin cells rather than from embryos and can become any type of cells in the laboratory. (Source: EurekAlert! - Medicine and Health)
Source: EurekAlert! - Medicine and Health - May 10, 2013 Category: Global & Universal Source Type: news
Ca2+ and Glu Signaling in FMR1 preCGG Astrocytes [Neurobiology]
Premutation CGG repeat expansions (55–200 CGG repeats; preCGG) within the fragile X mental retardation 1 (FMR1) gene can cause fragile X-associated tremor/ataxia syndrome. Defects in early neuronal migration and morphology, electrophysiological activity, and mitochondria trafficking have been described in a premutation mouse model, but whether preCGG mutations also affect astrocyte function remains unknown. PreCGG cortical astrocytes (∼170 CGG repeats) displayed 3-fold higher Fmr1 mRNA and 30% lower FMR1 protein (FMRP) when compared with WT. PreCGG astrocytes showed modest reductions in expression of glutamate (Glu) tr...
Source: Journal of Biological Chemistry - May 10, 2013 Category: Chemistry Authors: Cao, Z., Hulsizer, S., Cui, Y., Pretto, D. L., Kim, K. H., Hagerman, P. J., Tassone, F., Pessah, I. N. Tags: Molecular Bases of Disease Source Type: research
Mass. General, Duke study identifies 2 genes that combine to cause rare syndrome (EurekAlert, 8 May 2013)
A US study published in the New England Journal of Medicine identifies two genes involved in the ubiquitin system that may be associated with a rare syndrome combining ataxia and hypogonadotropic hypogonadism. Full article (Source: Society for Endocrinology)
Source: Society for Endocrinology - May 9, 2013 Category: Endocrinology Source Type: news
Endothelial cells require miR-214 to secrete exosomes that suppress senescence and induce angiogenesis in human and mouse endothelial cells
Signaling between endothelial cells, endothelial progenitor cells, and stromal cells is crucial for the establishment and maintenance of vascular integrity and involves exosomes, among other signaling pathways. Exosomes are important mediators of intercellular communication in immune signaling, tumor survival, stress responses, and angiogenesis. The ability of exosomes to incorporate and transfer messenger RNAs (mRNAs) encoding for "acquired" proteins or micro RNAs (miRNAs) repressing "resident" mRNA translation suggests that they can influence the physiological behavior of recipient cells. We demonstrate that miR-214, an ...
Source: Blood - May 9, 2013 Category: Hematology Authors: van Balkom, B. W. M., de Jong, O. G., Smits, M., Brummelman, J., den Ouden, K., de Bree, P. M., van Eijndhoven, M. A. J., Pegtel, D. M., Stoorvogel, W., Wurdinger, T., Verhaar, M. C. Tags: Vascular Biology Source Type: research
Disruptions in Trash-Collecting Genes Fuel Disorder (CME/CE)
(MedPage Today) -- Genetic mutations that halt a cell's ability to scrap unnecessary proteins may cause a condition marked by ataxia, hypogonadotrophic hypogonadism, and dementia, researchers found. (Source: MedPage Today Cardiovascular)
Source: MedPage Today Cardiovascular - May 8, 2013 Category: Cardiology Source Type: news
Ataxia, Dementia, and Hypogonadotropism Caused by Disordered Ubiquitination
New England Journal of Medicine, Volume 0, Issue 0, Ahead of Print. (Source: New England Journal of Medicine)
Source: New England Journal of Medicine - May 8, 2013 Category: Internal Medicine Tags: article Source Type: research
Transglutaminase 6 antibodies in the diagnosis of gluten ataxia
Conclusions: Antibodies against TG6 are gluten-dependent and appear to be a sensitive and specific marker of GA. (Source: Neurology)
Source: Neurology - May 6, 2013 Category: Neurology Authors: Hadjivassiliou, M., Aeschlimann, P., Sanders, D. S., Maki, M., Kaukinen, K., Grunewald, R. A., Bandmann, O., Woodroofe, N., Haddock, G., Aeschlimann, D. P. Tags: Autoimmune diseases, Gastrointestinal, Gait disorders/ataxia ARTICLE Source Type: research
Brain MRI evolution of metronidazole intoxication
A 64-year-old woman presented with a 6-month history of intermittent episodes of ataxia and dysarthria. She had been on metronidazole 1,500 mg daily for ulcerative colitis for 10 months. Cranial MRI 3 months before admission revealed hyperintensity in corpus callosum and bilateral dentate nuclei (figure 1, A–C). MRI on admission revealed cystic necrotic degeneration (figure 1, D and E) and cytotoxic edema (figure 2) in corpus callosum, whereas dentate nuclei appeared normal (figure 1F). The cumulative metronidazole dose was 450 g, relatively high,1 which could cause white matter injury by various mechanisms (appendix...
Source: Neurology - May 6, 2013 Category: Neurology Authors: Erdener, S. E., Kansu, T., Arsava, E. M., Dericioglu, N. Tags: MRI, Other toxicology NEUROIMAGES Source Type: research
A multimodal imaging analysis of subcortical gray matter in fragile X premutation carriers
ABSTRACT Approximately 40% of males with the fragile X premutation develop fragile X–associated tremor/ataxia syndrome after age 50. Although the thalamus and basal ganglia play a crucial role in movement disorders, their involvement in fragile X premutation carriers has not been systematically investigated. The current study characterized structural abnormalities associated with fragile X premutation carriers (with and without fragile X–associated tremor/ataxia syndrome) in the thalamus, caudate nucleus, putamen, and globus pallidus using T1‐weighted and diffusion tensor imaging. Male premutation carriers with fragi...
Source: Movement Disorders - May 6, 2013 Category: Neurology Authors: Jun Yi Wang, Randi J. Hagerman, Susan M. Rivera Tags: Research Article Source Type: research
Repeated Cycles of Binge‐Like Ethanol (EtOH)‐Drinking in Male C57BL/6J Mice Augments Subsequent Voluntary EtOH Intake But Not Other Dependence‐Like Phenotypes
ConclusionsExcessive EtOH drinking stemming from DID procedures does not initially induce phenotypes consistent with a dependence‐like state. However, the subsequent increases in voluntary EtOH consumption and preference that become more robust following repeated episodes of binge‐like EtOH drinking may reflect the early stages of EtOH dependence, suggesting that DID procedures may be ideal for studying the transition to EtOH dependence. (Source: Alcoholism: Clinical and Experimental Research)
Source: Alcoholism: Clinical and Experimental Research - May 3, 2013 Category: Addiction Authors: Benjamin R. Cox, Jeffrey J. Olney, Emily G. Lowery‐Gionta, Gretchen M. Sprow, Jennifer A. Rinker, Montserrat Navarro, Thomas L. Kash, Todd E. Thiele Tags: Original Article Source Type: research
ATM Kinase Regulation by MRN [Signal Transduction]
The Ataxia Telangiectasia-Mutated (ATM) protein kinase is recruited to sites of double-strand DNA breaks by the Mre11/Rad50/Nbs1 (MRN) complex, which also facilitates ATM monomerization and activation. MRN exists in at least two distinct conformational states, dependent on ATP binding and hydrolysis by the Rad50 protein. Here we use an ATP analog-sensitive form of ATM to determine that ATP binding, but not hydrolysis, by Rad50 is essential for MRN stimulation of ATM. Mre11 nuclease activity is dispensable, although some mutations in the Mre11 catalytic domain block ATM activation independent of nuclease function, as does t...
Source: Journal of Biological Chemistry - May 3, 2013 Category: Chemistry Authors: Lee, J.-H., Mand, M. R., Deshpande, R. A., Kinoshita, E., Yang, S.-H., Wyman, C., Paull, T. T. Tags: DNA and Chromosomes Source Type: research
Autosomal dominant hereditary ataxia in Sri Lanka
Conclusion: SCA1 was the predominant subtype and showed similar phenotype to previous reports. However, disease severity was higher and depression more prevalent in this population than previously described. (Source: BMC Neurology)
Source: BMC Neurology - May 1, 2013 Category: Neurology Authors: Dulika SumathipalaGayan AbeysekeraRohan JayasekaraChantal TallaksenVajira Dissanayake Source Type: research
The Innate Immune Response Transcription Factor Relish Is Necessary for Neurodegeneration in a Drosophila Model of Ataxia-Telangiectasia [Cellular Genetics]
Neurodegeneration is a hallmark of the human disease ataxia-telangiectasia (A-T) that is caused by mutation of the A-T mutated (ATM) gene. We have analyzed Drosophila melanogaster ATM mutants to determine the molecular mechanisms underlying neurodegeneration in A-T. Previously, we found that ATM mutants upregulate the expression of innate immune response (IIR) genes and undergo neurodegeneration in the central nervous system. Here, we present evidence that activation of the IIR is a cause of neurodegeneration in ATM mutants. Three lines of evidence indicate that ATM mutations cause neurodegeneration by activating the Nucle...
Source: Genetics - April 30, 2013 Category: Genetics & Stem Cells Authors: Petersen, A. J., Katzenberger, R. J., Wassarman, D. A. Tags: Cellular Genetics Source Type: research
Toxicology observation: Nystagmus after marijuana use
Abstract: Traditional teaching has held that horizontal-gaze nystagmus is a sign of intoxication by sedatives such as alcohol but not marijuana. This is a case report of an adult male who presents with 3 days of visual disturbance and dizziness following marijuana use. The exam was notable for gaze-evoked nystagmus and ataxia. Lab testing was normal except that urine drug screening was positive for marijuana only. Imaging included computed tomography (CT) and magnetic resonance imaging (MRI) scans of the head. Prior studies showing a negative association of nystagmus with marijuana are reviewed. This case is presented as a...
Source: Journal of Forensic and Legal Medicine - April 29, 2013 Category: Forensic Medicine Authors: Thomas Kibby, S. Eliza Halcomb Tags: Case Reports Source Type: research
Anti-Yo Antibody-mediated Paraneoplastic Cerebellar Degeneration in a Female Patient with Pleural Malignant Mesothelioma
In conclusion, we report a case of paraneoplastic cerebellar degeneration in a patient with pleural malignant mesothelioma because of the rarity of this neurologic presentation after the diagnosis of malignant mesothelioma and of the association with anti-Yo antibodies. (Source: Japanese Journal of Clinical Oncology)
Source: Japanese Journal of Clinical Oncology - April 29, 2013 Category: Cancer & Oncology Authors: Tanriverdi, O., Meydan, N., Barutca, S., Ozsan, N., Gurel, D., Veral, A. Tags: Case Report Case Reports Source Type: research
GABA-B-receptor antibodies in paraneoplastic brainstem encephalitis
Conclusion: The spectrum of neurological manifestations and tumours associated with the paraneoplastic variant of anti-GABA-B-receptor encephalitis may be broader than previously reported.Highlights: (Source: Journal of Neuroimmunology)
Source: Journal of Neuroimmunology - April 29, 2013 Category: Allergy & Immunology Authors: S. Mundiyanapurath, S. Jarius, C. Probst, W. Stöcker, B. Wildemann, J. Bösel Tags: Short Communications Source Type: research
The adverse event profile of perampanel: meta‐analysis of randomized controlled trials
ConclusionsVestibulocerebellar AEs (dizziness, ataxia), sedative effects (somnolence), irritability and weight increase were significantly associated with perampanel treatment. (Source: European Journal of Neurology)
Source: European Journal of Neurology - April 27, 2013 Category: Neurology Authors: G. Zaccara, F. Giovannelli, M. Cincotta, A. Verrotti, E. Grillo Tags: Original Article Source Type: research
Schwann cell involvement in the peripheral neuropathy of spinocerebellar ataxia type 3
ConclusionsIn addition to the previously reported neuronopathy, the results of the present study indicate that Schwann cells are involved in the formation of the pathogenic intracytoplasmic ataxin‐3 protein aggregates in patients with SCA3‐associated neuropathy. (Source: Neuropathology and Applied Neurobiology)
Source: Neuropathology and Applied Neurobiology - April 27, 2013 Category: Neurology Authors: Noriaki Suga, Masahisa Katsuno, Haruki Koike, Haruhiko Banno, Keisuke Suzuki, Atsushi Hashizume, Tomoo Mano, Masahiro Iijima, Yuichi Kawagashira, Masaaki Hirayama, Tomohiko Nakamura, Hirohisa Watanabe, Fumiaki Tanaka, Gen Sobue Tags: Original Article Source Type: research
Neuroimaging Features in Congenital Trichomegaly: The Oliver‐McFarlane Syndrome
ABSTRACT A 23‐year‐old woman presented to our hospital with 9 months history of progressive ataxia, visual loss since childhood due to retinitis pigmentosa and primary amenorrhea. On examination, there were also sparse scalp hair, very long and curled upwards eyelashes and short stature. Oliver‐McFarlane syndrome was suspected. Brain MRI disclosed cerebellar atrophy and hyperintense signal in corticospinal tracts on FLAIR and T2‐weighted images. Therefore, brain imaging must be thoroughly investigated in patients with suspected Oliver‐McFarlane syndrome, in order to determinate whether cerebellar atrophy and hype...
Source: Journal of Neuroimaging - April 26, 2013 Category: Radiology Authors: José Luiz Pedroso, René Leandro M. Rivero, Victor Alexandre D. Miranda, Marcela Amaral Avelino, Lívia Almeida Dutra, Rodrigo Souza Ribeiro, Karlo Faria Nunes, Gilberto Mastrocola Manzano, Orlando G. Barsottini Tags: Case Report Source Type: research
A zebrafish model of CLN2 disease is deficient in tripeptidyl peptidase 1 and displays progressive neurodegeneration accompanied by a reduction in proliferation
Tripeptidyl peptidase 1 (TPP1) deficiency causes CLN2 disease, late infantile (or classic late infantile neuronal ceroid lipofuscinosis), a paediatric neurodegenerative disease of autosomal recessive inheritance. Patients suffer from blindness, ataxia, epilepsy and cognitive defects, with MRI indicating widespread brain atrophy, and profound neuron loss is evident within the retina and brain. Currently there are no effective therapies for this disease, which causes premature death in adolescence. Zebrafish have been successfully used to model a range of neurological and behavioural abnormalities. The aim of this study was ...
Source: Brain - April 24, 2013 Category: Neurology Authors: Mahmood, F., Fu, S., Cooke, J., Wilson, S. W., Cooper, J. D., Russell, C. Tags: Original Articles Source Type: research
Vestibular function in superficial siderosis
Conclusions: These findings in SS patients suggest that saccule-inferior vestibular function is maintained at early stages of the disorder. Our study may help to clarify the mechanism of SS. (Source: BMC Ear, Nose and Throat Disorders)
Source: BMC Ear, Nose and Throat Disorders - April 23, 2013 Category: ENT & OMF Authors: Toru MiwaRyosei MinodaHidetake Matsuyoshi Source Type: research
Concurrent V(D)J recombination and DNA end instability increase interchromosomal trans-rearrangements in ATM-deficient thymocytes
During the CD4–CD8– (DN) stage of T-cell development, RAG-dependent DNA breaks and V(D)J recombination occur at three T-cell receptor (TCR) loci: TCRβ, TCR and TCR. During this stage, abnormal trans-rearrangements also take place between TCR loci, occurring at increased frequency in absence of the DNA damage response mediator ataxia telangiectasia mutated (ATM). Here, we use this model of physiologic trans-rearrangement to study factors that predispose to rearrangement and the role of ATM in preventing chromosomal translocations. The frequency of DN thymocytes with DNA damage foci at multiple TCR loci simu...
Source: Nucleic Acids Research - April 22, 2013 Category: Research Authors: Bowen, S., Wangsa, D., Ried, T., Livak, F., Hodes, R. J. Tags: Genome Integrity, Repair and Replication Source Type: research
Ocular motor characteristics of different subtypes of spinocerebellar ataxia: Distinguishing features
Abstract Because of frequent involvement of the cerebellum and brainstem, ocular motor abnormalities are key features of spinocerebellar ataxias and may aid in differential diagnosis. Our objective for this study was to distinguish the subtypes by ophthalmologic features after head‐shaking and positional maneuvers, which are not yet recognized as differential diagnostic tools in most common forms of spinocerebellar ataxias. Of the 302 patients with a diagnosis of cerebellar ataxia in 3 Korean University Hospitals from June 2011 to June 2012, 48 patients with spinocerebellar ataxia types 1, 2, 3, 6, 7, or 8 or with undete...
Source: Movement Disorders - April 22, 2013 Category: Neurology Authors: Ji Sun Kim, Ji Soo Kim, Jinyoung Youn, Dae‐Won Seo, Yuri Jeong, Ji‐Hoon Kang, Jeong Ho Park, Jin Whan Cho Tags: Research Article Source Type: research
Acute Cerebellar Ataxia in a Pediatric Case of Lyme Disease and a Review of Literature
We report the case of a 5-year-old girl seropositive for antibodies against the causative Lyme disease pathogen Borrelia burgdorferi presenting with severe acute cerebellar ataxia from the in southern coast of Anatolia (Mediterranean region). (Source: Pediatric Neurology)
Source: Pediatric Neurology - April 18, 2013 Category: Neurology Authors: Ilknur Erol, Semra Saygı, Fusun Alehan Tags: Case Reports Source Type: research
Science surprise: Toxic protein made in unusual way may explain brain disorder
(University of Michigan Health System) A bizarre twist on the usual way proteins are made may explain mysterious symptoms in the grandparents of some children with mental disabilities. The discovery may lead to better treatments for older adults with a recently discovered genetic condition, called Fragile X-associated Tremor Ataxia Syndrome. (Source: EurekAlert! - Medicine and Health)
Source: EurekAlert! - Medicine and Health - April 18, 2013 Category: Global & Universal Source Type: news
Treatment with 4-aminopyridine improves upper limb tremor of a patient with multiple sclerosis: a video case report
The reversible potassium channel blocker 4-aminopyridine is effective in the treatment of numerous cerebellar dysfunctions, such as episodic ataxia type 2 and downbeat nystagmus syndrome. In 2011, its sustained release form, dalfampridine, was admitted in Europe for the treatment of walking difficulties in patients with multiple sclerosis (MS). Here we report the case of a 44-year old patient with a progressive MS whose upper limb tremor was markedly reduced under treatment with 4-aminopyridine, as documented in a Tremor Activities of Daily Living questionnaire and in the 9-Hole Peg test. Hand accelerations decreased in th...
Source: Multiple Sclerosis - April 17, 2013 Category: Neurology Authors: Schniepp, R., Jakl, V., Wuehr, M., Havla, J., Kumpfel, T., Dieterich, M., Strupp, M., Jahn, K. Tags: Case Study Source Type: research
Teaching NeuroImages: MRI guides genetics: Leukoencephalopathy with brainstem and spinal cord involvement (LBSL)
A 12-year-old German girl presented with progressive spastic-ataxic gait and impaired fine motor skills starting from early childhood. MRI revealed striking T2-signal abnormalities in the cerebral and cerebellar white matter, pyramidal tracts and dorsal columns of the spinal cord, as well as lactate elevation in magnetic resonance spectroscopy, indicating leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation (LBSL) (figure). Sequencing of DARS21 revealed compound heterozygous frame shift and premature stop mutations (established c.228-11C>G, novel c.617_663del). (Source: Neurology)
Source: Neurology - April 15, 2013 Category: Neurology Authors: Schicks, J., Schols, L., van der Knaap, M. S., Synofzik, M. Tags: MRI, Leukodystrophies, Gait disorders/ataxia, Cerebellum, Mitochondrial disorders RESIDENT AND FELLOW SECTION Source Type: research
Gray matter atrophy distinguishes between Parkinson disease motor subtypes
Conclusions: In patients with PD, PIGD symptoms are apparently associated with GM atrophy in motor-related regions and decreased functional connectivity. GM degeneration and a related decrease in spontaneous coactivation between cortical and subcortical motor-planning areas may partially account for the unique clinical characteristics of a subset of patients with PD. (Source: Neurology)
Source: Neurology - April 15, 2013 Category: Neurology Authors: Rosenberg-Katz, K., Herman, T., Jacob, Y., Giladi, N., Hendler, T., Hausdorff, J. M. Tags: Volumetric MRI, Gait disorders/ataxia, Parkinson's disease/Parkinsonism, Tremor ARTICLE Source Type: research
Anti‐Yo mediated paraneoplastic cerebellar degeneration in the context of breast cancer: a case report and literature review
We present the case of a woman with progressive cerebellar deficits, which were misdiagnosed for several months before breast cancer and anti‐Yo antibodies were discovered. ResultsPCD may be misdiagnosed as a primary psychiatric disorder. Results of neuropsychological assessment in this case found subtle attentional dysfunction but relatively preserved cognitive functioning in other domains. DiscussionThe literature relating to PCD and psychiatric manifestations of cerebellar disease are reviewed. The limitations of our current understanding of non‐motor cerebellar function are highlighted, asserting the need for furth...
Source: Psycho-Oncology - April 14, 2013 Category: Cancer & Oncology Authors: Richard Garrett Key, James C. Root Tags: Brief Report Source Type: research
The PARP3- and ATM-dependent phosphorylation of APLF facilitates DNA double-strand break repair
APLF is a forkhead associated-containing protein with poly(ADP-ribose)-binding zinc finger (PBZ) domains, which undergoes ionizing radiation (IR)-induced and Ataxia-Telangiectasia Mutated (ATM)-dependent phosphorylation at serine-116 (Ser116). Here, we demonstrate that the phosphorylation of APLF at Ser116 in human U2OS cells by ATM is dependent on poly(ADP-ribose) polymerase 3 (PARP3) levels and the APLF PBZ domains. The interaction of APLF at sites of DNA damage was diminished by the single substitution of APLF Ser116 to alanine, and the cellular depletion or chemical inhibition of ATM or PARP3 also altered the level of ...
Source: Nucleic Acids Research - April 12, 2013 Category: Research Authors: Fenton, A. L., Shirodkar, P., Macrae, C. J., Meng, L., Koch, C. A. Tags: Genome Integrity, Repair and Replication Source Type: research
Senataxin Plays an Essential Role with DNA Damage Response Proteins in Meiotic Recombination and Gene Silencing
by Olivier J. Becherel, Abrey J. Yeo, Alissa Stellati, Evelyn Y. H. Heng, John Luff, Amila M. Suraweera, Rick Woods, Jean Fleming, Dianne Carrie, Kristine McKinney, Xiaoling Xu, Chuxia Deng, Martin F. Lavin Senataxin, mutated in the human genetic disorder ataxia with oculomotor apraxia type 2 (AOA2), plays an important role in maintaining genome integrity by coordination of transcription, DNA replication, and the DNA damage response. We demonstrate that senataxin is essential for spermatogenesis and that it functions at two stages in meiosis during crossing-over in homologous recombination and in meiotic sex chromosome in...
Source: PLoS Genetics - April 11, 2013 Category: Genetics & Stem Cells Authors: Olivier J. Becherel et al. Source Type: research
Clinical features of CIDP with LM1-associated antibodies
Conclusion In humans, LM1 is contained more in the dorsal root than in the cranial nerves. The clinical features of CIDP patients with antibodies to LM1 and LM1-containing complexes may be associated with the distribution of the LM1 antigen. LM1-associated antibodies are possible markers for a subclass of CIDP. (Source: Journal of Neurology, Neurosurgery and Psychiatry)
Source: Journal of Neurology, Neurosurgery and Psychiatry - April 8, 2013 Category: Neurosurgery Authors: Kuwahara, M., Suzuki, H., Samukawa, M., Hamada, Y., Takada, K., Kusunoki, S. Tags: Cranial nerves, Neuromuscular disease, Peripheral nerve disease Source Type: research
Bickerstaff brainstem encephalitis and Fisher syndrome: anti-GQ1b antibody syndrome
In the 1950s, Bickerstaff and Fisher independently described cases with a unique presentation of ophthalmoplegia and ataxia. The neurological features were typically preceded by an antecedent infection and the majority of patients made a spontaneous recovery. In the cases with Bickerstaff brainstem encephalitis, there was associated altered consciousness and in some, hyperreflexia, in support of a central pathology whereas in Fisher syndrome, patients were areflexic in keeping with a peripheral aetiology. However, both authors recognised certain similarities to Guillain–Barré syndrome such as the presence of p...
Source: Journal of Neurology, Neurosurgery and Psychiatry - April 8, 2013 Category: Neurosurgery Authors: Shahrizaila, N., Yuki, N. Tags: Editor's choice, Immunology (including allergy), Cranial nerves, Infection (neurology), Neuromuscular disease, Peripheral nerve disease, Ophthalmology, Memory disorders (psychiatry) Source Type: research
Idiopathic normal-pressure hydrocephalus: Pathophysiology and diagnosis by CSF biomarkers
Conclusions: We interpret our data as iNPH pathophysiology to be characterized by a reduced periventricular metabolism and axonal degeneration but no major cortical damage. (Source: Neurology)
Source: Neurology - April 8, 2013 Category: Neurology Authors: Jeppsson, A., Zetterberg, H., Blennow, K., Wikkelso, C. Tags: Hydrocephalus, Gait disorders/ataxia, Cerebrospinal Fluid, Cognitive neuropsychology in dementia ARTICLE Source Type: research
Progressive ataxia associated with scarring skin lesions and vertical gaze palsy
(Source: Movement Disorders)
Source: Movement Disorders - April 8, 2013 Category: Neurology Authors: Christos Ganos, Saskia Biskup, Stefanie Kleinmichel, Simone Zittel, Odette Schunke, Christian Gerloff, Alexander Münchau Tags: Clinical Vignettes Source Type: research
Commentary for “Progressive ataxia associated with scarring skin lesions and vertical gaze palsy”
(Source: Movement Disorders)
Source: Movement Disorders - April 8, 2013 Category: Neurology Authors: Kailash P. Bhatia Tags: Clinical Vignettes Source Type: research
Antibody deficiency in patients with ataxia telangiectasia is caused by disturbed B- and T-cell homeostasis and reduced immune repertoire diversity
Conclusion: The severity of the antibody deficiency in patients with AT correlates with disturbances in B- and T-cell homeostasis resulting in reduced immune repertoire diversity, which consequently affects the chance of successful antigen-dependent cognate B-T interaction. (Source: Journal of Allergy and Clinical Immunology)
Source: Journal of Allergy and Clinical Immunology - April 8, 2013 Category: Allergy & Immunology Authors: Gertjan J. Driessen, Hanna IJspeert, Corry M.R. Weemaes, Ásgeir Haraldsson, Margreet Trip, Adilia Warris, Michiel van der Flier, Nico Wulffraat, Mijke M.M. Verhagen, Malcolm A. Taylor, Menno C. van Zelm, Jacques J.M. van Dongen, Marcel van Deuren, Mirjam Tags: Immune deficiencies, infection, and systemic immune disorders Source Type: research
Mitochondrial Diseases of the Brain.
Abstract Neurodegenerative disorders are debilitating diseases of the brain, characterized by behavioral, motor and cognitive impairments. Ample evidence underpins mitochondrial dysfunction as a central causal factor in the pathogenesis of neurodegenerative disorders including Parkinson's disease, Huntington's disease, Alzheimer's disease, Amyotrophic lateral sclerosis, Friedreich's ataxia and Charcot-Marie-Tooth disease. In this review, we discuss the role of mitochondrial dysfunction such as bioenergetics defects, mitochondrial DNA mutations, gene mutations, altered mitochondrial dynamics (mitochondrial fusion/fi...
Source: Free Radical Biology and Medicine - April 6, 2013 Category: Biology Authors: Chaturvedi RK, Flint Beal M Tags: Free Radic Biol Med Source Type: research
Epidural myelolipoma in a Husky-cross: a case report
Epidural spinal myelolipoma was diagnosed in an 11.5-year-old castrated male Husky-cross that was evaluated at the veterinary teaching hospital due to progressive thoracolumbar spinal hyperaesthesia and mild proprioceptive pelvic limb ataxia. A focal, ill-defined mildly inhomogenous extradural mass lesion was detected by MRI. The dog was euthanized. At necropsy an extradurally located reddish mass of about 2.5 cm in diameter was present in the vertebral canal. The mass was identified histopathologically as an epidural myelolipoma. (Source: Acta Veterinaria Scandinavica)
Source: Acta Veterinaria Scandinavica - April 4, 2013 Category: Veterinary Research Authors: Marina HoffmannDavina LudwigCharlotte LemppVerena HaistVeronika Stein Source Type: research
Exome sequencing reveals a novel ANO10 mutation in a Japanese patient with autosomal recessive spinocerebellar ataxia.
PMID: 23551081 [PubMed - as supplied by publisher] (Source: Clinical Genetics)
Source: Clinical Genetics - April 4, 2013 Category: Genetics & Stem Cells Authors: Maruyama H, Morino H, Miyamoto R, Murakami N, Hamano T, Kawakami H Tags: Clin Genet Source Type: research