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L-carnitine supplementation decreases DNA damage in treated MSUD patients
Publication date: Available online 28 March 2015 Source:Mutation Research/Fundamental and Molecular Mechanisms of Mutagenesis Author(s): Caroline Paula Mescka , Gilian Guerreiro , Tatiane Hammerschmidt , Jéssica Faverzani , Daniella de Moura Coelho , Vanusa Mandredini , Carlos Alberto Yasin Wayhs , Moacir Wajner , Carlos Severo Dutra-Filho , Carmen Regla Vargas Maple syrup urine disease (MSUD) is an inherited disorder caused by severe deficient activity of the branched-chain α-keto acid dehydrogenase complex involved in the degradation pathway of branched-chain amino acids (BCAAs) and their α-ketoacid derivatives. MSU...
Source: Mutation Research Fundamental and Molecular Mechanisms of Mutagenesis - March 29, 2015 Category: Cytology Source Type: research

Multi-drugs resistant acne rosacea in a child affected by Ataxia-Telangiectasia: successful treatment with Isotretinoin
We report a case of a young Ataxia-Telangiectasia patient with a severe immunological and neurological involvement, who developed granulomatous skin lesions diagnosed by skin biopsy as acne rosacea. Considering the severe clinical picture and the lack of improvement to multiple topic and systemic therapies, treatment with Isotretinoin was started and the skin lesions disappeared after five months. However the therapy was stopped due to drug-hepatotoxicity.Systemic treatment with Isotretinoin should be carefully considered in patient with Ataxia-Telangiectasia for the treatment of multi-drug resistant acne rosacea, however ...
Source: BioMed Central - March 28, 2015 Category: Journals (General) Authors: Nicoletta CantaruttiAlessia ClapsGiulia AngelinoLuciana ChessaFrancesco CalleaMay El HachemAndrea DiociaiutiAndrea Finocchi Source Type: research

Defects in fatty acid amide hydrolase 2 in a male with neurologic and psychiatric symptoms
Conclusions: We propose that genetic alterations in FAAH2 activity contribute to neurologic and psychiatric disorders in humans. (Source: BioMed Central)
Source: BioMed Central - March 28, 2015 Category: Journals (General) Authors: Sandra SirrsClara van KarnebeekXiaoxue PengCasper ShyrMaja Tarailo-GraovacRupasri MandalDaniel TestaDevin DubinGregory CarbonettiSteven E GlynnBryan SaysonWendy P RobinsonBeomsoo HanDavid WishartColin J RossWyeth W WassermanTrevor A HurwitzGraham Sinclair Source Type: research

Fragile X premutation carriers: A systematic review of neuroimaging findings
Expansion of the CGG repeat region of the FMR1 gene from less than 45 repeats to between 55 and 200 repeats is known as the fragile X premutation. Carriers of the Fragile X premutation may develop a neurodegenerative disease called fragile X-associated tremor/ataxia syndrome (FXTAS). Recent evidence suggests that premutation carriers experience other psychiatric difficulties throughout their lifespan. (Source: Journal of the Neurological Sciences)
Source: Journal of the Neurological Sciences - March 26, 2015 Category: Neurology Authors: Stephanie S.G. Brown, Andrew C. Stanfield Tags: Review article Source Type: research

Remote cerebellar hemorrhage following thoracic spinal surgery of an intradural extramedullary tumor: a case report
Conclusions Remote cerebellar hemorrhage has to be suspected when unexpected neurological signs occur after spinal surgery. If an excessive amount of cerebrospinal fluid drains from the drainage tube after spinal surgery, drainage should be stopped. (Source: Journal of Medical Case Reports)
Source: Journal of Medical Case Reports - March 26, 2015 Category: Journals (General) Source Type: research

Acquired ataxias: the clinical spectrum, diagnosis and management
Abstract Acquired ataxias represent a large group of disorders defined by the common clinical feature of ataxia and the absence of a clear genetic basis for it. Based on the aetiology, the group can be subdivided into autoimmune, toxic, infectious and vitamin deficiency causes. Cerebellar ataxia may occur as an isolated syndrome in this spectrum of disorders but is often accompanied by additional neurological manifestations. Clinical work-up is challenging and mainly includes biochemical analyses, whereas imaging is of minor significance. Diagnosis is essential as many of these disorders represent potential treata...
Source: Journal of Neurology - March 25, 2015 Category: Neurology Source Type: research

A longitudinal study of the Friedreich Ataxia Impact Scale
Quality of life in Friedreich ataxia (FRDA) has been explored using various generic health status measurement tools, most commonly the Short Form Health Survey Version 2 (SF36v2). The tool did not address many specific issues related to disease impact in people with FRDA. The Friedreich Ataxia Impact Scale (FAIS) was developed to examine clinically relevant areas in FRDA. The aims of the current study were to assess the relationship between the FAIS and clinical characteristics of FRDA, as well as to determine the responsiveness of the FAIS to change over one and two years. (Source: Journal of the Neurological Sciences)
Source: Journal of the Neurological Sciences - March 25, 2015 Category: Neurology Authors: Geneieve Tai, Eppie M. Yiu, Louise A. Corben, Martin B. Delatycki Source Type: research

[Gait disorders in geriatric patients : Classification and therapy].
CONCLUSION: Identification of deficits is a prerequisite for specific therapy. As physical activity protects against cognitive impairment, reduces the risk of falling and improves overall quality of life, a structured assessment of causes for gait impairment is crucial. PMID: 25801948 [PubMed - as supplied by publisher] (Source: Der Nervenarzt)
Source: Der Nervenarzt - March 25, 2015 Category: Neurology Authors: Jahn K, Heinze C, Selge C, Heßelbarth K, Schniepp R Tags: Nervenarzt Source Type: research

Strategy Use, Planning, and Rule Acquisition Deficits in Spinocerebellar Ataxia Type 2 Patients
Research ArticlesIsrael Vaca-Palomares, Rosalinda Díaz, Roberto Rodríguez-Labrada, Jacqueline Medrano-Montero, Raúl Aguilera-Rodríguez, Yaimeé Vázquez-Mojena, Juan Fernandez-Ruiz, Luis Velázquez-Pérez Journal of the International Neuropsychological Society, FirstView Article(s), 7 pagesAbstract (Source: Journal of the International Neuropsychological Society)
Source: Journal of the International Neuropsychological Society - March 23, 2015 Category: Neurology Source Type: research

Defects of mutant DNMT1 are linked to a spectrum of neurological disorders
We report a broader than previously appreciated clinical spectrum for hereditary sensory and autonomic neuropathy type 1E (HSAN1E) and a potential pathogenic mechanism for DNA methyltransferase (DNMT1) mutations. The clinical presentations and genetic characteristics of nine newly identified HSAN1E kinships (45 affected subjects) were investigated. Five novel mutations of DNMT1 were discovered; p.C353F, p.T481P, p.P491L, p.Y524D and p.I531N, all within the target-sequence domain, and two mutations (p.T481P, p.P491L) arising de novo. Recently, HSAN1E has been suggested as an allelic disorder of autosomal dominant cerebellar...
Source: Brain - March 23, 2015 Category: Neurology Authors: Baets, J., Duan, X., Wu, Y., Smith, G., Seeley, W. W., Mademan, I., McGrath, N. M., Beadell, N. C., Khoury, J., Botuyan, M.-V., Mer, G., Worrell, G. A., Hojo, K., DeLeon, J., Laura, M., Liu, Y.-T., Senderek, J., Weis, J., Van den Bergh, P., Merrill, S. L. Tags: Original Articles Source Type: research

Introduction to a Thematic Issue for WWOX
Since its discovery in 2000, WW domain-containing oxidoreductase (WWOX, FOR or WOX1) has been considered as a tumor suppressor protein. Global research focus has been aimed mainly toward this direction. In this thematic issue, updated information has been collected regarding the structure, function and signaling of WWOX, along with its critical role as a tumor suppressor and participation in metabolism, neurodegeneration, ataxia, epilepsy, neural disorders, neuronal damages, and interactions with oncogenic viruses. WWOX is not a driver of cancer initiation. Chromosomal alterations in the WWOX gene enhance cancer progressio...
Source: Experimental Biology and Medicine - March 23, 2015 Category: Research Authors: Chang, N.-S. Tags: Introduction Source Type: research

The fragile site WWOX gene and the developing brain
WWOX was cloned as a tumor suppressor gene mapping to chromosomal fragile site FRA16D. Loss of WWOX is closely related to tumorigenesis, cancer progression, and therapy resistance. Recent studies demonstrate the growing role of WWOX gene in other human pathologies such as metabolic and nervous system-related conditions. The neurologic phenotype of WWOX mutation includes seizures, ataxia, developmental delay, and spasticity of variable severity. WWOX is a ubiquitous protein with high expression in many tissues including brain, cerebellum, brain stem, and spinal cord. WWOX is highly expressed in different brain regions durin...
Source: Experimental Biology and Medicine - March 23, 2015 Category: Research Authors: Tabarki, B., Al Mutairi, F., Al Hashem, A. Tags: WWOX in neural diseases Source Type: research

Biopsy of Brainstem Gliomas Using Flexible Endoscopes
Conclusion The use of flexible endoscops for biopsy of ventral, dorsal (tectum lamina quadrigemina), and diffuse brainstem tumors is a useful, effective, and safe procedure that also allows to treat obstructive hydrocephalus secondary to the tumors.[...]Georg Thieme Verlag KG Stuttgart · New YorkArticle in Thieme eJournals:Table of contents  |  Abstract  |  Full text (Source: Journal of Neurological Surgery Part A: Central European Neurosurgery)
Source: Journal of Neurological Surgery Part A: Central European Neurosurgery - March 23, 2015 Category: Neurosurgery Authors: Torres Corzo, Jaime GerardoRodriguez, Jose SanchezCastillo, Juan LucinoEscobedo, Reynaldo FalconCervantes, DominicDella Vecchia, Roberto RodriguezVinas Rios, Juan Manuel Tags: Original Article Source Type: research

Quantifiable evaluation of cerebellar signs in children
Conclusions: The electronic CCFS is a quantified measurement of cerebellar ataxia independent of age, usable in individuals aged from 7 to 80 years. The automated nature of the electronic test device makes it reproducible between operators and centers, as well as easy to use. (Source: Neurology)
Source: Neurology - March 23, 2015 Category: Neurology Authors: Filipovic Pierucci, A., Mariotti, C., Panzeri, M., Giunti, P., Boesch, S., Schulz, J. B., Pandolfo, M., Durr, A., Tezenas du Montcel, S., On behalf of the EFACTS Study Group Tags: Diagnostic test assessment, Eyelids, Spinocerebellar ataxia, Trinucleotide repeat diseases ARTICLE Source Type: research

A stable RNA G-quadruplex within the 5'-UTR of Arabidopsis thaliana ATR mRNA inhibits translation.
Abstract Guanine quadruplex structures (GQSs) play important roles in the regulation of gene expression and cellular processes. Recent studies provide strong evidence for the formation and function of DNA and RNA GQSs in human cells. However, whether GQSs form and are functional in plants remains essentially unexplored. On the basis of circular dichroism (CD)-detected titration, UV-detected melting, in-line probing (ILP) and reporter gene assay studies, we report the first example of a plant RNA GQS that inhibits translation. This GQS is located within the 5'-UTR of the ATAXIA TELANGIECTASIA-MUTATED AND RAD3-RELATE...
Source: The Biochemical Journal - March 21, 2015 Category: Biochemistry Authors: Kwok CK, Ding Y, Shahid S, Assmann SM, Bevilacqua PC Tags: Biochem J Source Type: research

Ataxia Telangiectasia–Mutated Gene Polymorphisms and Acute Normal Tissue Injuries in Cancer Patients After Radiation Therapy: A Systematic Review and Meta-analysis
Studies of the association between ataxia telangiectasia–mutated (ATM) gene polymorphisms and acute radiation injuries are often small in sample size, and the results are inconsistent. We conducted the first meta-analysis to provide a systematic review of published findings. (Source: International Journal of Radiation Oncology * Biology * Physics)
Source: International Journal of Radiation Oncology * Biology * Physics - March 21, 2015 Category: Radiology Authors: Lihua Dong, Jingkun Cui, Fengjiao Tang, Xiaofeng Cong, Fujun Han Tags: Biology Contribution Source Type: research

A Case of Subacute Ataxia in the Summertime: Tick Paralysis
Abstract Tick paralysis is caused by a neurotoxin secreted in the saliva of a gravid female tick, and manifests with ataxia, areflexia, ascending paralysis, bulbar palsy, and ophthalmoparesis. An 84-year-old man presented in June in coastal Mississippi with several days of subacute ataxia, bulbar palsy, unilateral weakness, and absent deep tendon reflexes. MRI/MRA and extensive serum and cerebrospinal fluid investigations were unrevealing. His symptoms progressed over several days, until his nurse discovered and removed an engorged tick from his gluteal fold. Within hours of tick removal, his subacute symptoms com...
Source: Journal of General Internal Medicine - March 21, 2015 Category: Internal Medicine Source Type: research

Klippel-Feil syndrome associated with congenital atlanto-occipital dislocation and absent C1 posterior arch
A 33-year-old female was referred with unsteadiness of standing and abnormal gait over 20 years. Physical examination revealed low hairline, restricted neck movement, bucking, dysphagia and ataxia. Muscle power graded 4 in upper extremities, 4 in lower extremities at proximal end and 3 of dorsal extension and 2 of ventral flexion in the left feet. She also had sleep apnea symptoms. (Source: The Spine Journal)
Source: The Spine Journal - March 21, 2015 Category: Orthopaedics Authors: Yi-heng Yin, Peng Wang, Xin-guang Yu Tags: Images of Spine Care Source Type: research

[Posterior cortical atrophy : Pathology, diagnosis and treatment of a rare form of dementia].
Abstract The syndrome of posterior cortical atrophy (PCA) is a rare clinical manifestation of several neurodegenerative diseases which affect the parieto-occipital cortex. The most frequent underlying pathology is Alzheimer's disease but some cases are caused by Lewy body disease, progressive subcortical gliosis, corticobasal degeneration or prion diseases. The most prominent clinical feature of PCA is complex visual disturbances including object agnosia, simultanagnosia, optical ataxia and oculomotor apraxia while basic visual functions remain intact. These deficits lead to multiple impairments in activities of da...
Source: Der Nervenarzt - March 21, 2015 Category: Neurology Authors: Ortner M, Kurz A Tags: Nervenarzt Source Type: research

Sporadic infantile-onset spinocerebellar ataxia caused by missense mutations of the inositol 1,4,5-triphosphate receptor type 1 gene
We examined if mutations of ITPR1 are also involved in sporadic infantile-onset SCA. Sixty patients with childhood-onset cerebellar atrophy of unknown etiology and their families were examined by whole-exome sequencing. We found de novo heterozygous ITPR1 missense mutations in four unrelated patients with sporadic infantile-onset, nonprogressive cerebellar ataxia. Patients displayed nystagmus, tremor, and hypotonia from very early infancy. Nonprogressive ataxia, motor delay, and mild cognitive deficits were common clinical findings. Brain magnetic resonance imaging revealed slowly progressive cerebellar atrophy. ITPR1 miss...
Source: Journal of Neurology - March 20, 2015 Category: Neurology Source Type: research

EphA5 Is a Functional Target in Lung Cancer [Molecular Bases of Disease]
Lung cancer is often refractory to radiotherapy, but molecular mechanisms of tumor resistance remain poorly defined. Here we show that the receptor tyrosine kinase EphA5 is specifically overexpressed in lung cancer and is involved in regulating cellular responses to genotoxic insult. In the absence of EphA5, lung cancer cells displayed a defective G1/S cell cycle checkpoint, were unable to resolve DNA damage, and became radiosensitive. Upon irradiation, EphA5 was transported into the nucleus where it interacted with activated ATM (ataxia-telangiectasia mutated) at sites of DNA repair. Finally, we demonstrate that a new mon...
Source: Journal of Biological Chemistry - March 20, 2015 Category: Chemistry Authors: Staquicini, F. I., Qian, M. D., Salameh, A., Dobroff, A. S., Edwards, J. K., Cimino, D. F., Moeller, B. J., Kelly, P., Nunez, M. I., Tang, X., Liu, D. D., Lee, J. J., Hong, W. K., Ferrara, F., Bradbury, A. R. M., Lobb, R. R., Edelman, M. J., Sidman, R. L. Tags: Cell Biology Source Type: research

The potential of lactulose and melibiose, two novel trehalase-indigestible and autophagy-inducing disaccharides, for polyQ-mediated neurodegenerative disease treatment.
In this study, two trehalase-indigestible trehalose analogs, lactulose and melibiose, were selected through compound topology and functional group analyses. Hydrogen-bonding network analyses suggest that the elimination of the hydrogen bond between the linker ether and aspartate 321 (D321) of human trehalase is the key for lactulose and melibiose to avoid the hydrolyzation. Using polyQ-mediated spinocerebellar ataxia type 17 (SCA17) cell and slice cultures, we found the aggregation was significantly prohibited by trehalose, lactulose, and melibiose, which may through up-regulating of autophagy. These findings suggest the t...
Source: Neurotoxicology - March 20, 2015 Category: Neurology Authors: Lee GC, Lin CH, Tao YC, Yang JM, Hsu KC, Huang YJ, Huang SH, Kung PJ, Chen WL, Wang CM, Wu YR, Chen CM, Lin JY, Hsieh-Li HM, Lee-Chen GJ Tags: Neurotoxicology Source Type: research

O6.3 * ATR inhibitor AZD6738
AZD6738 is a potent and selective orally bio-available inhibitor of ataxia telangiectasia and rad3 related (ATR),a key serine/threonine protein kinase involved in DNA damage response signalling caused by DNA replication associated stress. Activation of ATR at stalled replication forks leads to suppression of replication fork origin firing, promotes repair and activates S/G1/G2-cell cycle checkpoints to prevent premature mitosis and maintain genomic integrity. Failure to resolve this damage leads to genomic instability and if sufficiently high, cell death. Cancer cells undergoing high levels of replication associated DNA da...
Source: Annals of Oncology - March 20, 2015 Category: Cancer & Oncology Authors: Clack, G., Lau, A., Pierce, A., Smith, S., Stephens, C. Tags: Plenary session 6: DNA repair targets Source Type: research

O6.4 * VX-970, selective inhibitor of ataxia telangiectasia and Rad3-related (ATR) protein
Conclusions: VX-970 is an inhibitor of ATR that enhances the activity of DNA damaging agents in pre-clinical models, and is in phase 1 clinical development. (Source: Annals of Oncology)
Source: Annals of Oncology - March 20, 2015 Category: Cancer & Oncology Authors: Asmal, M., Dean, E., Evans, J., Middleton, M., Plummer, R. Tags: Plenary session 6: DNA repair targets Source Type: research

[Editors' Choice] GABA receptors as oxytocin targets
Oxytocin limits the ataxia and sedation effects of ethanol by reducing its potentiation of the GABAA family of Cl- channels. (Source: Signal Transduction Knowledge Environment)
Source: Signal Transduction Knowledge Environment - March 19, 2015 Category: Science Authors: Nancy Gough (mailto:ngough at Source Type: news

An atypical form of AOA2 with myoclonus associated with mutations in SETX and AFG3L2
Conclusions: Exome sequencing is a powerful tool in identifying disease genes. We identified an atypical form of Ataxia with Oculoapraxia type 2 (AOA2) with myoclonus at onset associated with the c.6292C > T (p.Arg2098*) homozygous mutation. Because the same genotype was described in six cases from a Tunisian family with a typical AOA2 without myoclonus, we speculate this latter feature is associated with a second mutated gene, namely AFG3L2 (p.Gly116Arg variant).We suggest that variant phenotypes may be due to the combined effect of different mutated genes associated to ataxia or related disorders, that will become mo...
Source: BMC Medical Genetics - March 19, 2015 Category: Genetics & Stem Cells Authors: Cecilia ManciniLaura OrsiYiran GuoJiankang LiYulan ChenFengxiang WangLifeng TianXuanzhu LiuJianguo ZhangHui JiangBruce NmeziTakashi TatsutaElisa GiorgioEleonora Di GregorioSimona CavalieriElisa PozziPaolo MortaraMaria CaglioAlessandro BalducciLorenzo Pine Source Type: research

Infantile-Onset Saccade Initiation Delay (Congenital Ocular Motor Apraxia)
Abstract Infantile-onset saccade initiation delay, also known as congenital ocular motor apraxia, typically presents in early infancy with horizontal head thrusts once head control is achieved. Defective initiation of horizontal saccades and saccade hypometria with normal saccadic velocity are characteristic findings. Isolated impairment of vertical saccades is rare. Impaired smooth ocular pursuit may be seen. Other relatively common features include developmental delay, hypotonia, ataxia, or clumsiness. Brain MRI may be normal or show a diverse range of abnormalities, most commonly involving the cerebellum. Defe...
Source: Current Neurology and Neuroscience Reports - March 19, 2015 Category: Neuroscience Source Type: research

Ataxia with oculomotor apraxia type 2: not always an easy diagnosis
(Source: Neurological Sciences)
Source: Neurological Sciences - March 19, 2015 Category: Neurology Source Type: research

Lazarillo-related Lipocalins confer long-term protection against type I Spinocerebellar Ataxia degeneration contributing to optimize selective autophagy
Conclusions: This work shows for the first time that a Lipocalin rescues neurons from pathogenic SCA1 degeneration by optimizing clearance of aggregation-prone proteins. GLaz modulates key autophagy genes and lipid-peroxide clearance responsive genes. Down-regulation of selective autophagy causes similar and non-additive rescuing effects. These data suggest that SCA1 neurodegeneration concurs with autophagic stress, and places Lazarillo-related Lipocalins as valuable players in the endogenous protection against the two major contributors to aging and neurodegeneration: ROS-dependent damage and proteostasis deterioration. (...
Source: Molecular Neurodegeneration - March 19, 2015 Category: Neurology Authors: Manuela del Caño-EspinelJudith AcebesDiego SanchezMaria Ganfornina Source Type: research

Active immunization against alpha-synuclein ameliorates the degenerative pathology and prevents demyelination in a model of multiple system atrophy
Conclusions: This study further validates the efficacy of vaccination with AFFITOPEs® for ameliorating the neurodegenerative pathology in synucleinopathies. (Source: Molecular Neurodegeneration)
Source: Molecular Neurodegeneration - March 19, 2015 Category: Neurology Authors: Markus MandlerElvira ValeraEdward RockensteinMichael ManteHarald WeningerChristina PatrickAnthony AdameSabine SchmidhuberRadmila SanticAchim SchneebergerWalter SchmidtFrank MattnerEliezer Masliah Source Type: research

Unveiling a common mechanism of apoptosis in {beta}-cells and neurons in Friedreich's ataxia
Friedreich's ataxia (FRDA) is a neurodegenerative disorder associated with cardiomyopathy and diabetes. Effective therapies for FRDA are an urgent unmet need; there are currently no options to prevent or treat this orphan disease. FRDA is caused by reduced expression of the mitochondrial protein frataxin. We have previously demonstrated that pancreatic β-cell dysfunction and death cause diabetes in FRDA. This is secondary to mitochondrial dysfunction and apoptosis but the underlying molecular mechanisms are not known. Here we show that β-cell demise in frataxin deficiency is the consequence of oxidative stress-me...
Source: Human Molecular Genetics - March 19, 2015 Category: Genetics & Stem Cells Authors: Igoillo-Esteve, M., Gurgul-Convey, E., Hu, A., Romagueira Bichara Dos Santos, L., Abdulkarim, B., Chintawar, S., Marselli, L., Marchetti, P., Jonas, J.-C., Eizirik, D. L., Pandolfo, M., Cnop, M. Tags: ARTICLES Source Type: research

Exercise-induced downbeat nystagmus in a Korean family with a nonsense mutation in CACNA1A
Abstract Episodic ataxia type 2 (EA2) is characterized by recurrent attacks of vertigo and ataxia lasting hours triggered by emotional stress or exercise. Although interictal horizontal gaze-evoked nystagmus and rebound nystagmus are commonly observed in patients with EA2, the nystagmus has been rarely reported during the vertigo attack. To better describe exercise-induced nystagmus in EA2, four affected members from three generations of a Korean family with EA2 received full neurological and neuro-otological evaluations. Vertigo was provoked in the proband with running for 10 min to record eye movements during t...
Source: Neurological Sciences - March 18, 2015 Category: Neurology Source Type: research

Appendicular Ataxia without Position Sense Loss in a patient with Parietal Lobe Infarct
A 86 -year-old lady presented with sudden onset of appendicular ataxia of the right arm with minimal weakness and no deep sensory loss. On neurological exam, she had minimal pronator drift. She had undershooting and overshooting on attempting to reach the target finger on finger to nose test. She also has dysdiadokokinesia and uncontrolled rebound. The tests were not worsened with eyes closed. The sensory exam was unremarkable including normal proprioception. Her Brain MRI showed an area of acute infarct in left posterior parietal lobe (Fig. 1) and no other lesion. (Source: Journal of the Neurological Sciences)
Source: Journal of the Neurological Sciences - March 18, 2015 Category: Neurology Authors: Ashkan Mowla, Haris Kamal, S. Ali Nabavizadeh Tags: Letter to the Editor Source Type: research

Bilaterally impaired hand dexterity with posterior cortical atrophy
Publication date: Available online 16 March 2015 Source:Journal of Clinical Gerontology and Geriatrics Author(s): Nages Nagaratnam , Gary Cheuk , Kujan Nagaratnam A 79-year- old man presented with bilaterally impaired hand movements pertaining to handling of objects although hand movements without the use of objects were preserved, findings consistent with tactile apraxia. His hand and finger movements were slow and clumsy. He had an isolated optic ataxia, a component of Balint's syndrome. The computed tomography scan showed enlargement of the posterior horns of the lateral ventricles. He had recurrent falls probably owi...
Source: Journal of Clinical Gerontology and Geriatrics - March 17, 2015 Category: Geriatrics Source Type: research

Benzodiazepine exposure increases risk of Alzheimer's disease
Commentary on: Billioti de Gage S, Moride Y, Ducruet T, et al. Benzodiazepine use and risk of Alzheimer's disease: case-control study. BMJ 2014;349:g5205. Context Benzodiazepines (BZ) are widely prescribed for older patients. They have Food and Drug Administration (FDA) indications for a number of conditions including generalised anxiety disorder, panic disorder and insomnia. However, there are many worries about safety in the elderly including withdrawal, tolerance, ataxia, drug–drug interactions and adverse effects on cognition. For these reasons most guidelines recommend against long-term use of BZ. The study pres...
Source: Evidence-Based Medicine - March 17, 2015 Category: Internal Medicine Authors: Rosenberg, P. B. Tags: Epidemiologic studies, Dementia, Drugs: CNS (not psychiatric), Sleep disorders (neurology), Unwanted effects / adverse reactions, Anxiety disorders (including OCD and PTSD), Drugs: psychiatry, Memory disorders (psychiatry), Psychiatry of old age, Psychoti Source Type: research

A new case of UDP-galactose transporter deficiency (SLC35A2-CDG): molecular basis, clinical phenotype, and therapeutic approach
Abstract Congenital disorders of glycosylation (CDG) are a group of hereditary metabolic diseases characterized by abnormal glycosylation of proteins and lipids. Often, multisystem disorders with central nervous system involvement and a large variety of clinical symptoms occur. The main characteristics are developmental delay, seizures, and ataxia. In this paper we report the clinical and biochemical characteristics of a 5-year-old girl with a defective galactosylation of N-glycans, resulting in developmental delay, muscular hypotonia, epileptic seizures, inverted nipples, and visual impairment. Next generation se...
Source: Journal of Inherited Metabolic Disease - March 17, 2015 Category: Internal Medicine Source Type: research

Kaempferol Induces DNA Damage and Inhibits DNA Repair Associated Protein Expressions in Human Promyelocytic Leukemia HL-60 Cells.
In this study, we investigated whether kaempferol induced DNA damage and affected DNA repair associated protein expression in human leukemia HL-60 cells in vitro. Percentages of viable cells were measured via a flow cytometry assay. DNA damage was examined by Comet assay and DAPI staining. DNA fragmentation (ladder) was examined by DNA gel electrophoresis. The changes of protein levels associated with DNA repair were examined by Western blotting. Results showed that kaempferol dose-dependently decreased the viable cells. Comet assay indicated that kaempferol induced DNA damage (Comet tail) in a dose-dependent manner and DA...
Source: The American Journal of Chinese Medicine - March 17, 2015 Category: Complementary Medicine Authors: Wu LY, Lu HF, Chou YC, Shih YL, Bau DT, Chen JC, Hsu SC, Chung JG Tags: Am J Chin Med Source Type: research

Abnormal Cochlear Potentials in Friedreich's Ataxia Point to Disordered Synchrony of Auditory Nerve Fiber Activity.
CONCLUSION: These findings suggest that underlying auditory neuropathy in FRDA is a disordered synchrony in auditory nerve fiber discharge, possibly resulting from auditory nerve fiber degeneration and inner hair cell loss. © 2015 S. Karger AG, Basel. PMID: 25791504 [PubMed - as supplied by publisher] (Source: Neuro-Degenerative Diseases)
Source: Neuro-Degenerative Diseases - March 17, 2015 Category: Neurology Authors: Santarelli R, Cama E, Pegoraro E, Scimemi P Tags: Neurodegener Dis Source Type: research

Abnormal Cochlear Potentials in Friedreich's Ataxia Point to Disordered Synchrony of Auditory Nerve Fiber Activity
Conclusion: These findings suggest that underlying auditory neuropathy in FRDA is a disordered synchrony in auditory nerve fiber discharge, possibly resulting from auditory nerve fiber degeneration and inner hair cell loss.Neurodegener Dis (Source: Neurodegenerative Diseases)
Source: Neurodegenerative Diseases - March 16, 2015 Category: Neurology Source Type: research

Neurogenetics: The expanding horizons of diagnosis and disease pathogenesis
To an increasing extent, the desire to catalog and categorize neurologic disorders based on genotype–phenotype correlations is challenged by frequent departures from the syndromic categorizations that were commonplace in the pregenomic era. This challenge is not limited to the recent striking revelations concerning diseases attributable to noncoding, nonconventional mutations, such as repeat expansions in C9ORF72. There are abundant examples of conventional mutations, identified using nonbiased, whole-exome sequencing, that lead to unanticipated phenotypes in the world of hereditary motor system disorders. The report...
Source: Neurology - March 16, 2015 Category: Neurology Authors: Gomez, C. M., Kawakami, H. Tags: Gait disorders/ataxia, Spastic paraplegia, Spinocerebellar ataxia, Cerebellum, Prevalence studies EDITORIALS Source Type: research

SPG7 mutations are a common cause of undiagnosed ataxia
Late-onset ataxias are clinically and etiologically diverse. Patients rarely have defining clinical features, and many remain classified as idiopathic, despite extensive clinical, metabolic, and genetic investigations. Here we show that mutations in a gene known to cause hereditary spastic paraplegia (SPG7) are a major cause of unexplained ataxia presenting in mid-adult life. (Source: Neurology)
Source: Neurology - March 16, 2015 Category: Neurology Authors: Pfeffer, G., Pyle, A., Griffin, H., Miller, J., Wilson, V., Turnbull, L., Fawcett, K., Sims, D., Eglon, G., Hadjivassiliou, M., Horvath, R., Nemeth, A., Chinnery, P. F. Tags: Gait disorders/ataxia, Spastic paraplegia, Spinocerebellar ataxia, Cerebellum, Prevalence studies CLINICAL/SCIENTIFIC NOTES Source Type: research

Dystonia and cerebellar degeneration in the leaner mouse mutant.
Abstract Cerebellar degeneration is traditionally associated with ataxia. Yet, there are examples of both ataxia and dystonia occurring in individuals with cerebellar degeneration. There is also substantial evidence suggesting that cerebellar dysfunction alone may cause dystonia. The types of cerebellar defects that may cause ataxia, dystonia, or both have not been delineated. In the current study, we explored the relationship between cerebellar degeneration and dystonia using the leaner mouse mutant. Leaner mice have severe dystonia that is associated with dysfunctional and degenerating cerebellar Purkinje cells. ...
Source: Brain Research - March 16, 2015 Category: Neurology Authors: Raike RS, Hess EJ, Jinnah HA Tags: Brain Res Source Type: research

Mosaic dominant TUBB4A mutation in an inbred family with complicated hereditary spastic paraplegia
ConclusionsOur study adds complicated hereditary spastic paraplegia to the clinical spectrum of TUBB4A‐associated neurological disorders. We establish genotype–phenotype correlations with mutations located in the same region in the tertiary structure of the protein. © 2015 International Parkinson and Movement Disorder Society (Source: Movement Disorders)
Source: Movement Disorders - March 15, 2015 Category: Neurology Authors: Dahlia Kancheva, Teodora Chamova, Velina Guergueltcheva, Vanio Mitev, Dimitar N. Azmanov, Luba Kalaydjieva, Ivailo Tournev, Albena Jordanova Tags: Brief Report Source Type: research

In vivo neurometabolic profiling in patients with spinocerebellar ataxia types 1, 2, 3, and 7
Abstract Spinocerebellar ataxias (SCAs) belong to polyglutamine repeat disorders and are characterized by a predominant atrophy of the cerebellum and the pons. Proton magnetic resonance spectroscopy (1H MRS) using an optimized semiadiabatic localization by adiabatic selective refocusing (semi‐LASER) protocol was performed at 3 T to determine metabolite concentrations in the cerebellar vermis and pons of a cohort of patients with SCA1 (n = 16), SCA2 (n = 12), SCA3 (n = 21), and SCA7 (n = 12) and healthy controls (n = 33). Compared with controls, patients displayed lower total N‐acetylaspartate and, t...
Source: Movement Disorders - March 15, 2015 Category: Neurology Authors: Isaac M. Adanyeguh, Pierre‐Gilles Henry, Tra M. Nguyen, Daisy Rinaldi, Celine Jauffret, Romain Valabregue, Uzay E. Emir, Dinesh K. Deelchand, Alexis Brice, Lynn E. Eberly, Gülin Öz, Alexandra Durr, Fanny Mochel Tags: Research Article Source Type: research

Opsoclonus–ataxia syndrome associated with ovarian mature teratoma
Abstract A 16‐year‐old girl with no prior medical history developed vertigo and nausea following alimentary infection. Neurological examination showed limb and truncal ataxia, opsoclonus, myoclonus, and hyperreflexia. Brain magnetic resonance imaging and cerebrospinal fluid analysis showed no abnormalities. Treatment with i.v. high‐dose methylprednisolone and immunoglobulin was started, but this proved ineffective. The clinical course was unusual, so whole‐body computed tomography was done to evaluate other differential diagnoses. Imaging identified right ovarian mature teratoma. Paraneoplastic opsoclonus–ataxia ...
Source: Journal of Obstetrics and Gynaecology Research - March 15, 2015 Category: OBGYN Authors: Kiyoshi Kanno, Syogo Kin, Masaki Hirose, Satoshi Suzuki, Takafumi Watanabe, Keiya Fujimori Tags: Case Report Source Type: research

From Mice to Men: TRPC3 in Cerebellar Ataxia
Abstract The dominantly inherited cerebellar ataxias are a clinically and genetically heterogeneous group of neurodegenerative disorders. Studies using mouse models as well as recent genetic and transcriptomic human findings point to an important role for TRPC3 signaling in cerebellar ataxia. (Source: The Cerebellum)
Source: The Cerebellum - March 14, 2015 Category: Neurology Source Type: research

Megalencephalic leukoencephalopathy with subcortical cysts caused by compound heterozygous mutations in , in patients with and without subcortical cysts in the brain
Megalencephalic leukoencephalopathy with subcortical cysts (MLC) is a rare hereditary disorder characterized by infantile-onset macrocephaly and a gradual onset of progressive neurological symptoms including ataxia, spasticity, and mild mental decline [1]. As the name of the disorder suggests, patients with MLC invariably had subcortical cysts in the anterior temporal region of the brain [1]. (See Fig. 1.) (Source: Journal of the Neurological Sciences)
Source: Journal of the Neurological Sciences - March 14, 2015 Category: Neurology Authors: Teruaki Masuda, Mitsuharu Ueda, Hidetsugu Ueyama, Shino Shimada, Masatoshi Ishizaki, Shigehiro Imamura, Toshiyuki Yamamoto, Yukio Ando Tags: Letter to the Editor Source Type: research

From Mice to Men: TRPC3 in Cerebellar Ataxia.
Abstract The dominantly inherited cerebellar ataxias are a clinically and genetically heterogeneous group of neurodegenerative disorders. Studies using mouse models as well as recent genetic and transcriptomic human findings point to an important role for TRPC3 signaling in cerebellar ataxia. PMID: 25772041 [PubMed - as supplied by publisher] (Source: Cerebellum)
Source: Cerebellum - March 14, 2015 Category: Neuroscience Authors: Becker EB Tags: Cerebellum Source Type: research

Paraneoplastic cerebellar ataxia associated with anti-Hu antibodies and benign ganglioneuroma.
We describe a case of cerebellar ataxia associated with anti-Hu antibodies and benign ganglioneuroma. A 28-year-old woman developed progressive ataxia with hyporeflexia at the age of 19. Brain MRI showed progressive cerebellar atrophy. Neurophysiological studies, screening of immune-mediated ataxias, oncological markers, vitamin E and genetic tests for spinocerebellar ataxia types 1,2,3, Friedreich ataxia and POLG1 were negative. Anti-Hu antibodies were positive in Western blot and indirect immunofluorescence (1:640). Total-body computed tomography revealed a mediastinum mass; the histological diagnosis was maturing gangli...
Source: Functional Neurology - March 13, 2015 Category: Neurology Tags: Funct Neurol Source Type: research

Ndfip1-mediated Ubiquitination of BRAT1 for Nuclear Trafficking [Neurobiology]
During injury, cells are vulnerable to apoptosis from a variety of stress conditions including DNA damage causing double-stranded breaks. Without repair, these breaks lead to aberrations in DNA replication and transcription, leading to apoptosis. A major response to DNA damage is provided by the protein kinase ATM (ataxia telangiectasia mutated) that is capable of commanding a plethora of signaling networks for DNA repair, cell cycle arrest, and even apoptosis. A key element in the DNA damage response is the mobilization of activating proteins into the cell nucleus to repair damaged DNA. BRAT1 is one of these proteins, and...
Source: Journal of Biological Chemistry - March 13, 2015 Category: Chemistry Authors: Low, L.-H., Chow, Y.-L., Li, Y., Goh, C.-P., Putz, U., Silke, J., Ouchi, T., Howitt, J., Tan, S.-S. Tags: Molecular Bases of Disease Source Type: research