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NPC1 is enriched in unexplained early onset ataxia: a targeted high-throughput screening
Abstract Niemann–Pick disease type C (NP-C) is a rare autosomal-recessive neurodegenerative disease featuring pleiotropic neurological, psychiatric and visceral manifestations. Since many of the adult manifestations can be non-specific or missed, NP-C often goes undetected in adult-onset patients. Here we hypothesized that targeted high-throughput sequencing allows identifying NP-C patients among subjects with unexplained early-onset ataxia (EOA) and, moreover, that this population is enriched for NPC1 mutations. From 204 consecutive EOA patients, all 108 subjects with an established diagnosis were removed (incl...
Source: Journal of Neurology - September 4, 2015 Category: Neurology Source Type: research

Quantitative evaluation of gait ataxia by accelerometers
An appropriate biomarker for spinocerebellar degeneration (SCD) has not been identified. Here, we performed gait analysis on patients with pure cerebellar type SCD and assessed whether the obtained data could be used as a neurophysiological biomarker for cerebellar ataxia. We analyzed 25 SCD patients, 25 patients with Parkinson’s Disease as a disease control, and 25 healthy control individuals. Acceleration signals during 6 minutes of walking and 1 minute of standing were measured by two sets of triaxial accelerometers that were secured with a fixation vest to the middle of the lower and upper back of each subject. (Sour...
Source: Journal of the Neurological Sciences - September 3, 2015 Category: Neurology Authors: Shinichi Shirai, Ichiro Yabe, Masaaki Matsushima, Yoichi M. Ito, Mitsuru Yoneyama, Hidenao Sasaki Source Type: research

Insertion of an extra copy of Xq22.2 into 1p36 results in functional duplication of the PLP1 gene in a girl with classical Pelizaeus-Merzbacher disease
Conclusion: This case emphasizes the susceptibility of the PLP1 locus to complex rearrangement likely driven by the Xq22 local genomic architecture. In addition, careful consideration should be given to girls with classical PMD clinical features since they usually experience complex PLP1 genomic alteration with a distinct risk of inheritance. (Source: BMC Medical Genetics)
Source: BMC Medical Genetics - September 2, 2015 Category: Genetics & Stem Cells Authors: Julien Masliah-PlanchonCéline DupontGeorge VartzelisAurélien TrimouilleEléonore Eymard-PierreMathilde Gay-BellileFlorence RenaldoImen DorbozCécile PaganSamuel QuentinMonique ElmalehChristina KotsogianniElissavet KonstantelouSéverine DrunatAnne-Claude Source Type: research

University of South Florida and Friedreich's Ataxia Research Alliance to host scientific symposium
(University of South Florida (USF Health)) The University of South Florida will again bring together leading researchers and patients searching for a treatment for Friedreich's ataxia and related disorders at the seventh annual scientific symposium 'Understanding Energy for A Cure.' The symposium will be held 5:00 to 8:30 p.m., Thursday, Sept. 17, at the USF Marshall Student Center Ballroom in Tampa, FL. (Source: EurekAlert! - Medicine and Health)
Source: EurekAlert! - Medicine and Health - September 1, 2015 Category: Global & Universal Source Type: news

Diplopia and Ataxia in a Heavy Smoker
A 64-year-old man with coronary artery disease and an 80 pack-year smoking habit presented with vertigo, diplopia, ataxia, cranial nerve palsy findings, and pulmonary nodules with mediastinal lymphadenopathy on CT. What would you do next? (Source: JAMA)
Source: JAMA - September 1, 2015 Category: Journals (General) Source Type: research

Rhombencephalitis by Listeria Monocytogens in Two Diabetic Patients.
We report two cases of rhombencephalitis infection by Listeria monocytogenes in a 65 and 63-year-old men with diabetes. They were referred to a neurologist due to fever and drowsiness after 3 weeks. The 65-year-old man had vertigo, diplopia, ataxia, bidirectional nystagmus and the 63-year-old man complained of perioral numbness, dysphagia and dysartheria. Treatment with ampicillin (12 g/day) was started empirically and modified when the culture results were available. The CSF cultures were positive to Listeria monocytogenes and brain MRI findings were suggestive of rhomboencephalitis. Despite delays in treatment, they had ...
Source: Archives of Iranian Medicine - September 1, 2015 Category: Middle East Health Authors: Bazooyar B Tags: Arch Iran Med Source Type: research

Evidence for chromosome fragility at the frataxin locus in Friedreich ataxia
Publication date: Available online 30 August 2015 Source:Mutation Research/Fundamental and Molecular Mechanisms of Mutagenesis Author(s): Daman Kumari, Bruce Hayward, Asako J. Nakamura, William M. Bonner, Karen Usdin Friedreich ataxia (FRDA) is a member of the Repeat Expansion Diseases, a group of genetic conditions resulting from an increase/expansion in the size of a specific tandem array. FRDA results from expansion of a GAA/TTC-tract in the first intron of the frataxin gene (FXN). The disease-associated tandem repeats all form secondary structures that are thought to contribute to the propensity of the repeat to...
Source: Mutation Research Fundamental and Molecular Mechanisms of Mutagenesis - August 31, 2015 Category: Cytology Source Type: research

From focal epilepsy to Dravet syndrome--Heterogeneity of the phenotype due to SCN1A mutations of the p.Arg1596 amino acid residue in the Nav1.1 subunit.
CONCLUSION: Clinical picture heterogeneity of the patients carrying mutation of the same residue indicates the involvement of the other factors influencing the SCN1A gene mutations' penetrance. PMID: 26188943 [PubMed - indexed for MEDLINE] (Source: Neurologia i Neurochirurgia Polska)
Source: Neurologia i Neurochirurgia Polska - August 30, 2015 Category: Neurology Authors: Hoffman-Zacharska D, Szczepanik E, Terczynska I, Goszczanska-Ciuchta A, Zalewska-Miszkurka Z, Tataj R, Bal J Tags: Neurol Neurochir Pol Source Type: research

Early-onset leukoencephalopathy due to a homozygous missense mutation in the DARS2 gene
This report further extends the knowledge about the clinical and molecular genetic spectrum of LBSL. (Source: Molecular and Cellular Probes)
Source: Molecular and Cellular Probes - August 30, 2015 Category: Molecular Biology Source Type: research

Cerebellar ataxia induced by 3-AP affects immunological function.
CONCLUSION: Cerebellar ataxia alters cellular and humoral immunity. PMID: 26313392 [PubMed - as supplied by publisher] (Source: Neuroendocrinology Letters)
Source: Neuroendocrinology Letters - August 29, 2015 Category: Endocrinology Tags: Neuro Endocrinol Lett Source Type: research

Investigation of mitochondrial DNA variations among Indian Friedreich's ataxia (FRDA) patients
Conclusions Overall, our study identifies the functionally important variations and mitochondrial lineage of Indian FRDA cases and, that underscores the importance of studying the role of mitochondrial genome variations in FRDA. (Source: Mitochondrion)
Source: Mitochondrion - August 29, 2015 Category: Biochemistry Source Type: research

Isolated facial diplegia in Guillain‐Barré syndrome: Bifacial weakness with paresthesias
This article is protected by copyright. All rights reserved. (Source: Muscle and Nerve)
Source: Muscle and Nerve - August 28, 2015 Category: Internal Medicine Authors: Benjamin R Wakerley, Nobuhiro Yuki Tags: Invited Review Source Type: research

Congenital muscular dystrophy with fatty liver and infantile-onset cataract caused by TRAPPC11 mutations: broadening of the phenotype
Conclusion: This report widens the phenotype of TRAPPC11-opathy as the patient showed the following: (1) congenital muscular dystrophy phenotype rather than LGMD; (2) steatosis and infantile-onset cataract, both not observed in previously reported patients; but (3) no ataxia or abnormal movement, clearly indicating that TRAPPC11 plays a physiological role in multiple tissues in human. (Source: Skeletal Muscle)
Source: Skeletal Muscle - August 28, 2015 Category: Research Authors: Wen-Chen LiangWenhua ZhuSatomi MitsuhashiSatoru NoguchiMichael SacherMegumu OgawaHsiang-Hung ShihYuh-Jyh JongIchizo Nishino Source Type: research

Riluzole in patients with hereditary cerebellar ataxia: a randomised, double-blind, placebo-controlled trial
Publication date: Available online 25 August 2015 Source:The Lancet Neurology Author(s): Silvia Romano, Giulia Coarelli, Christian Marcotulli, Luca Leonardi, Francesca Piccolo, Maria Spadaro, Marina Frontali, Michela Ferraldeschi, Maria Chiara Vulpiani, Federica Ponzelli, Marco Salvetti, Francesco Orzi, Antonio Petrucci, Nicola Vanacore, Carlo Casali, Giovanni Ristori Background Our previous study in patients with cerebellar ataxias of different causes showed significant benefit of riluzole after 8 weeks. We aimed to confirm these results in patients with spinocerebellar ataxia or Friedreich's ataxia in a...
Source: The Lancet Neurology - August 27, 2015 Category: Neurology Source Type: research

Comparison of cardiovagal baroreflex sensitivity from phase IV of Valsalva maneuver in SCA 1 and SCA 2 patients
Introduction: Baroreflex maintains blood pressure (BP) when there is change in heart rate (HR) and total peripheral resistance. Valsalva maneuver (VM) is widely used to quantify cardiovagal baroreflex sensitivity (cBRS). It is an important marker of vagal reflexes. Autonomic dysfunction has been reported in spinocerebellar ataxia (SCA) patients, but comparison of cardiovagal baroreflex sensitivity from phase IV of Valsalva maneuver remains poorly reported in between SCA1 and SCA2 patients. It is also known that cBRS is an important marker of vagal reflexes. (Source: Autonomic Neuroscience: Basic and Clinical)
Source: Autonomic Neuroscience: Basic and Clinical - August 26, 2015 Category: Neuroscience Authors: Dibashree Tamuli, Mohammed Faruq, Ashok Kumar Jaryal, Achal Kumar Srivastava, Kishor Kumar Deepak Tags: P7.4 Source Type: research

Mesenchymal Stem Cell Treatment in MSA – Rationale, Approach, and Early Experience
Multiple system atrophy (MSA) is a rare, sporadic, progressive neurodegenerative disorder characterized by autonomic failure, cerebellar ataxia, and/or parkinsonism. Pathologically, MSA is characterized by glial cytoplasmic inclusions of abnormally aggregated α-synuclein, and resulting neuronal loss in striatum, cerebellum, brainstem, cortex, and spinal cord. Although the precise mechanism by which α-synuclein aggregation leads to neuronal loss is unproven, recent evidence suggests resulting growth factor deficiency. (Source: Autonomic Neuroscience: Basic and Clinical)
Source: Autonomic Neuroscience: Basic and Clinical - August 26, 2015 Category: Neuroscience Authors: W. Singer, P.A. Low Tags: 20.7 Source Type: research

Atypical Presentation for Friedreich Ataxia in a Child
Abstract: The classic phenotype of Friedreich ataxia is characterized by dysarthria, progressive limb and trunk ataxia, loss of reflexes, and gait disturbance with the onset of disease before the second decade. Homozygous trinucleotide repeat expansion of GAA in the FXN gene is found in 98% of patients. Two-5% of all patients have a repeat expansion on one allele and a point mutation on the other allele. Atypical phenotype is found in 25% of patients. A 10-year-old boy presented with congenital biliary atresia and progressive gait abnormality. His examination was significant for spastic gait, hyperreflexia, and sensory neu...
Source: Journal of Clinical Neuromuscular Disease - August 26, 2015 Category: Neurology Tags: Short Report Source Type: research

Strabismus and Micro-Opsoclonus in Machado-Joseph Disease
We describe novel deficits of gaze holding and ocular alignment in patients with spinocerebellar ataxia type 3, also known as Machado-Joseph disease (MJD). Twelve MJD patients were studied. Clinical assessments and quantitative ocular alignment measures were performed. Eye movements were quantitatively assessed with corneal curvature tracker and video-oculography. Strabismus was seen in ten MJD patients. Four patients had mild to moderate intermittent exotropia, three had esotropia, one had skew deviation, one had hypotropia, and one patient had moderate exophoria. Three strabismic patients had V-pattern. Near point of con...
Source: The Cerebellum - August 26, 2015 Category: Neurology Source Type: research

Strabismus and Micro-Opsoclonus in Machado-Joseph Disease.
We describe novel deficits of gaze holding and ocular alignment in patients with spinocerebellar ataxia type 3, also known as Machado-Joseph disease (MJD). Twelve MJD patients were studied. Clinical assessments and quantitative ocular alignment measures were performed. Eye movements were quantitatively assessed with corneal curvature tracker and video-oculography. Strabismus was seen in ten MJD patients. Four patients had mild to moderate intermittent exotropia, three had esotropia, one had skew deviation, one had hypotropia, and one patient had moderate exophoria. Three strabismic patients had V-pattern. Near point of con...
Source: Cerebellum - August 26, 2015 Category: Neuroscience Authors: Ghasia FF, Wilmot G, Ahmed A, Shaikh AG Tags: Cerebellum Source Type: research

Henry Barber-Riley staggers around, slurs his words and vomits due to rare genetic condition
Henry Barber-Riley, five, from Lutterworth, Leicstershire, suffers from episodic ataxia type 2, which causes him to have 'episodes' in which he staggers and slurs his words. (Source: the Mail online | Health)
Source: the Mail online | Health - August 25, 2015 Category: Consumer Health News Source Type: news

Ataxia at the Masquerade Ball
No abstract available (Source: Journal of Neuro-Ophthalmology)
Source: Journal of Neuro-Ophthalmology - August 25, 2015 Category: Opthalmology Tags: Clinical-Pathological Case Study Source Type: research

Cp/Heph mutant mice have iron‐induced neurodegeneration diminished by deferiprone
This article is protected by copyright. All rights reserved. (Source: Journal of Neurochemistry)
Source: Journal of Neurochemistry - August 25, 2015 Category: Neuroscience Authors: Liangliang Zhao, Majda Hadziahmetovic, Chenguang Wang, Xueying Xu, Ying Song, H.A. Jinnah, Jolanta Wodzinska, Jared Iacovelli, Natalie Wolkow, Predrag Krajacic, Alyssa Cwanger Weissberger, John Connelly, Michael Spino, Michael K. Lee, James Connor, Benoit Tags: Original Article Source Type: research

Evidence for distinct brain networks in the control of rule-based motor behavior
Reach guidance when the spatial location of the viewed target and hand movement are incongruent (i.e., decoupled) necessitates use of explicit cognitive rules (strategic control) or implicit recalibration of gaze and limb position (sensorimotor recalibration). In a patient with optic ataxia (OA) and bilateral superior parietal lobule damage, we recently demonstrated an increased reliance on strategic control when the patient performed a decoupled reach (Granek JA, Pisella L, Stemberger J, Vighetto A, Rossetti Y, Sergio LE. PLoS One 8: e86138, 2013). To more generally understand the fundamental mechanisms of decoupled visuo...
Source: Journal of Neurophysiology - August 25, 2015 Category: Neurology Authors: Granek, J. A., Sergio, L. E. Tags: Control Of Movement Source Type: research

Optic neuropathy in late-onset neurodegenerative Chédiak-Higashi syndrome.
CONCLUSIONS: This report expands the ophthalmological phenotype of the late-onset neurodegenerative form of CHS to include optic neuropathy with progressive vision loss, even in the absence of ocular albinism, and abnormal prominence of the interdigitation zone between cone outer segment tips and apical processes of retinal pigment epithelium cells on macular OCT. PMID: 26307451 [PubMed - as supplied by publisher] (Source: The British Journal of Ophthalmology)
Source: The British Journal of Ophthalmology - August 25, 2015 Category: Opthalmology Authors: Desai N, Weisfeld-Adams JD, Brodie SE, Cho C, Curcio CA, Lublin F, Rucker JC Tags: Br J Ophthalmol Source Type: research

Elevated mutant dynorphin A causes Purkinje cell loss and motor dysfunction in spinocerebellar ataxia type 23
In conclusion, the PDYNR212W mouse is the first animal model of spinocerebellar ataxia type 23 and our work indicates that the elevated mutant dynorphin A peptide levels are likely responsible for the initiation and progression of the disease, affecting glutamatergic signalling, neuronal excitability, and motor performance. Our novel mouse model defines a critical role for opioid neuropeptides in spinocerebellar ataxia, and suggests that restoring the elevated mutant neuropeptide levels can be explored as a therapeutic intervention. (Source: Brain)
Source: Brain - August 24, 2015 Category: Neurology Authors: Smeets, C. J. L. M., Jezierska, J., Watanabe, H., Duarri, A., Fokkens, M. R., Meijer, M., Zhou, Q., Yakovleva, T., Boddeke, E., den Dunnen, W., van Deursen, J., Bakalkin, G., Kampinga, H. H., van de Sluis, B., Verbeek, D. S. Tags: Movement Disorders Original Articles Source Type: research

G protein‐coupled receptor 26 immunoreactivity in intranuclear inclusions associated with polyglutamine and intranuclear inclusion body diseases
G protein‐coupled receptor 26 (GPR26) is one of the G‐protein‐coupled receptors (GPCRs), which comprise the largest family of membrane proteins and mediate most of the physiological responses to hormones, neurotransmitters and environmental stimulants. Although GPCRs are considered to play an important role in the pathophysiology of neurodegenerative disorders, it is uncertain whether GPR26 is involved in the pathogenesis of polyglutamine and intranuclear inclusion body diseases. We immunohistochemically examined the brain tissues of patients with four polyglutamine diseases (Huntington's disease, dentatorubral‐pal...
Source: Neuropathology - August 24, 2015 Category: Neurology Authors: Fumiaki Mori, Kunikazu Tanji, Yasuo Miki, Yasuko Toyoshima, Mari Yoshida, Akiyoshi Kakita, Hitoshi Takahashi, Jun Utsumi, Hidenao Sasaki, Koichi Wakabayashi Tags: Original Article Source Type: research

Whole Course Neuroendoscopic Resection of Cerebellopontine Angle Epidermoid Cysts
Conclusions The characteristics of epidermoid cysts make them amenable to whole course neuroendoscopic resection. Use of physiologic/pathologic interspaces and neuroendoscopic angulations decreases traction on the brain, improves complete resection rates, and decreases postoperative complications.[...]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 - August 24, 2015 Category: Neurosurgery Authors: Hu, ZhiqiangGuan, FengKang, TiejiangHuang, HuiDai, BinZhu, GuangtongMao, BeibeiKang, Zhuang Tags: Original Article Source Type: research

Gait and Functional Mobility Deficits in Fragile X-Associated Tremor/Ataxia Syndrome
Abstract Fragile X-associated tremor/ataxia syndrome (FXTAS) results from a “premutation” (PM) size CGG repeat expansion in the fragile X mental retardation 1 (FMR1) gene. Cerebellar gait ataxia is the primary feature in some FXTAS patients causing progressive disability. However, no studies have quantitatively characterized gait and mobility deficits in FXTAS. We performed quantitative gait and mobility analysis in seven FMR1 PM carriers with FXTAS and ataxia, six PM carriers without FXTAS, and 18 age-matched controls. We studied four independent gait domains, trunk range of motion (ROM), and movement transit...
Source: The Cerebellum - August 23, 2015 Category: Neurology Source Type: research

Psychosis in Machado–Joseph Disease: Clinical Correlates, Pathophysiological Discussion, and Functional Brain Imaging. Expanding the Cerebellar Cognitive Affective Syndrome
Abstract Machado–Joseph disease (MJD) is the most common spinocerebellar ataxia worldwide with a broad range of clinical manifestations, but psychotic symptoms were not previously characterized. We investigated the psychiatric manifestations of a large cohort of Brazilian patients with MJD in an attempt to characterize the presence of psychotic symptoms. We evaluated 112 patients with clinical and molecular diagnosis of MJD from February 2008 to November 2013. Patients with psychotic symptoms were referred to psychiatric evaluation and brain perfusion single-photon emission computed tomography (SPECT) analysis. ...
Source: The Cerebellum - August 23, 2015 Category: Neurology Source Type: research

Psychosis in Machado-Joseph Disease: Clinical Correlates, Pathophysiological Discussion, and Functional Brain Imaging. Expanding the Cerebellar Cognitive Affective Syndrome.
Discussion, and Functional Brain Imaging. Expanding the Cerebellar Cognitive Affective Syndrome. Cerebellum. 2015 Aug 23; Authors: Braga-Neto P, Pedroso JL, Gadelha A, Laureano MR, de Souza Noto C, Garrido GJ, Barsottini OG Abstract Machado-Joseph disease (MJD) is the most common spinocerebellar ataxia worldwide with a broad range of clinical manifestations, but psychotic symptoms were not previously characterized. We investigated the psychiatric manifestations of a large cohort of Brazilian patients with MJD in an attempt to characterize the presence of psychotic symptoms. We evaluated 112 patients wi...
Source: Cerebellum - August 23, 2015 Category: Neuroscience Authors: Braga-Neto P, Pedroso JL, Gadelha A, Laureano MR, de Souza Noto C, Garrido GJ, Barsottini OG Tags: Cerebellum Source Type: research

Gait and Functional Mobility Deficits in Fragile X-Associated Tremor/Ataxia Syndrome.
Abstract Fragile X-associated tremor/ataxia syndrome (FXTAS) results from a "premutation" (PM) size CGG repeat expansion in the fragile X mental retardation 1 (FMR1) gene. Cerebellar gait ataxia is the primary feature in some FXTAS patients causing progressive disability. However, no studies have quantitatively characterized gait and mobility deficits in FXTAS. We performed quantitative gait and mobility analysis in seven FMR1 PM carriers with FXTAS and ataxia, six PM carriers without FXTAS, and 18 age-matched controls. We studied four independent gait domains, trunk range of motion (ROM), and movement transitions ...
Source: Cerebellum - August 23, 2015 Category: Neuroscience Authors: O'Keefe JA, Robertson-Dick EE, Hall DA, Berry-Kravis E Tags: Cerebellum Source Type: research

Is multiple system atrophy with cerebellar ataxia (MSA-C) like spinocerebellar ataxia and multiple system atrophy with parkinsonism (MSA-P) like Parkinson’s disease? - A saccade study on pathophysiology
Multiple-system atrophy (MSA) is a degenerative neurological disorder characterized by a combination of parkinsonian and ataxic/autonomic symptoms. The clinical manifestations form a broad spectrum, at one end of which are patients featuring predominantly parkinsonian (MSA-P), at the other end of which are patients mainly featuring ataxic syndromes (MSA-C), in addition to the autonomic symptoms commonly to both subtypes (Gilman et al., 2008). While the extent and degree of pathological changes with emphasis on either the striatonigral and olivopontocerebellar (OPC) system may explain the emergence of largely diverse clinic...
Source: Clinical Neurophysiology - August 22, 2015 Category: Neuroscience Authors: Yasuo Terao, Hideki Fukuda, Shinnichi Tokushige, Satomi Inomata-Terada, Akihiro Yugeta, Masashi Hamada, Yaeko Ichikawa, Ritsuko Hanajima, Yoshikazu Ugawa Source Type: research

Motor pathway degeneration in young ataxia telangiectasia patients: A diffusion tractography study
Conclusions Whole tract analysis of corticomotor, corticospinal and somatosensory pathways in ataxia telangiectasia showed significant white matter degeneration along the entire length of motor circuits, highlighting that ataxia-telangiectasia gene mutation impacts the cerebellum and multiple other motor circuits in young patients. (Source: NeuroImage: Clinical)
Source: NeuroImage: Clinical - August 21, 2015 Category: Radiology Source Type: research

Novel SACS mutation in Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay
Dear Sir, (See Fig. 1.) (Source: Journal of the Neurological Sciences)
Source: Journal of the Neurological Sciences - August 21, 2015 Category: Neurology Authors: Marta González Sánchez Source Type: research

New practical definitions for the diagnosis of autosomal recessive spastic ataxia of Charlevoix‐Saguenay
This study aimed to identify new mutations in a large population of ataxic patients and to functionally analyze their cellular effects in the mitochondrial compartment. Methods: A total of 321 index patients with spastic ataxia selected from the SPATAX network were analyzed by direct sequencing of the SACS gene, and 156 patients from the ATAXIC project presenting with congenital ataxia were investigated either by targeted or whole‐exome sequencing. For functional analyses, primary cultures of fibroblasts were obtained from 11 patients carrying either mono‐ or biallelic variants, including one case harboring a large del...
Source: Annals of Neurology - August 20, 2015 Category: Neurology Authors: Julie Pilliod, Sébastien Moutton, Julie Lavie, Elise Maurat, Christophe Hubert, Nadège Bellance, Mathieu Anheim, Sylvie Forlani, Fanny Mochel, Karine N'Guyen, Christel Thauvin‐Robinet, Christophe Verny, Dan Milea, Gaëtan Lesca, Michel Koenig, Diana R Tags: Research Article Source Type: research

Novel Lactulose and Melibiose Targeting Autophagy to Reduce PolyQ Aggregation in Cell Models of Spinocerebellar Ataxia 3.
In this study, two trehalase analogs, lactulose and melibiose, were examined for their potentials in spinocerebellar ataxia treatment. Using a SCA3 ATXN3/Q75-GFP cell model, we found that the ATXN3/Q75 aggregation was significantly prohibited by lactulose and melibiose because of their abilities to up-regulate autophagy. Meanwhile, lactulose and melibiose reduced reactive oxygen species production in ATXN3/Q75 cells. Both of them further inhibited the ATXN3/Q75 aggregation in neuronally differentiated SH-SY5Y cells. These findings suggest the therapeutic applications of novel trehalose analogs in polyglutamine aggregation-...
Source: CNS and Neurological Disorders Drug Targets - August 20, 2015 Category: Drugs & Pharmacology Authors: Lin CH, Wu YR, Yang JM, Chen WL, Chao CY, Chen IC, Lin TH, Wu YC, Hsu KC, Chen CM, Lee GC, Hsieh-Li HM, Lee CM, Lee-Chen GJ Tags: CNS Neurol Disord Drug Targets Source Type: research

Complete APTX deletion in a patient with ataxia with oculomotor apraxia type 1
Conclusion: Here we described an ataxia with oculomotor apraxia type 1 patient who has a homozygous deletion of the complete coding region of APTX. In contrast to the patient with the large deletion, our patient does not have a severe phenotype. More patients with deletions of APTX are required to investigate a genotype-phenotype effect. (Source: BMC Medical Genetics)
Source: BMC Medical Genetics - August 19, 2015 Category: Genetics & Stem Cells Authors: Rick van MinkelenMiriam GuitartConxita EscofetGrace YoonPeter ElfferichGalhana BolmanRobert van der HelmRaoul van de GraafAns van den Ouweland Source Type: research

The Pescatorial Sixth
A 56 year-old man with diabetes presented with acute diplopia and signs of bilateral complete abduction deficits. Diffuse areflexia was his only other sign at presentation. Within a few days he developed complete ophthalmoplegia and ataxia, consistent with a clinical diagnosis of Miller Fisher syndrome, and repeated history revealed a possible gastroenteritis 3 weeks prior. This case illustrates an ‘ophthalmoplegia without ataxia’ variant of this classic autoimmune condition, which should be considered in patients presenting with bilateral VI nerve palsies. (Source: Survey of Ophthalmology)
Source: Survey of Ophthalmology - August 19, 2015 Category: Opthalmology Authors: Francesco Pellegrini, Giovanni Prosdocimo, Jason J.S. Barton Tags: Clinical challenge Source Type: research

Direct Functional Connectivity between the Thalamus (Vim) and the Contralateral Motor Cortex: Just a Single Case Observation or a Common Pathway in the Human Brain?
In this case report we present in vivo evidence of direct bilateral cortico-thalamic connectivity on a patient with fragile-x tremor ataxia syndrome who underwent DBS surgery for bilateral severe rest and kinetic tremor. We use very short latency cortical evoked responses (CER) as evidence of a direct anatomical pathway between the thalamus and the ipsilateral and contralateral cortex. CERs with various latencies have been previously reported from patients undergoing deep brain stimulation (DBS) for intractable tremor and from experimental models in primates [1–4]. (Source: BRAIN STIMULATION: Basic, Translational, and Cl...
Source: BRAIN STIMULATION: Basic, Translational, and Clinical Research in Neuromodulation - August 18, 2015 Category: Neurology Authors: Ptolemaios G. Sarrigiannis, Yifan Zhao, Fei He, Hualiang Wei, Stephen A. Billings, Sarah Lawrence, Jeremy Rowe, Charles Romanowski, Nigel Hoggard, Dasappaiah Ganesh Rao, Richard Grünewald, Aijaz Khan, Marios Hadjivassilliou, John Yianni Tags: Letter to the Editor Source Type: research

PTK6 and Gemcitabine-Induced DNA Damage in Pancreatic Cancer
In conclusion, PTK6 prolongs S-phase and increases the ability of gemcitabine to cause DNA damage in vitro and in vivo. Implications: PTK6 affects cell cycle and DNA damage, thus making it an important therapeutic target to improve the outcomes of patients with pancreatic cancer. Mol Cancer Res; 13(8); 1174–84. ©2015 AACR. (Source: Molecular Cancer Research)
Source: Molecular Cancer Research - August 16, 2015 Category: Cancer & Oncology Authors: Ono, H., Basson, M. D., Ito, H. Tags: Cell Death and Survival Source Type: research

Cerebrospinal Fluid Biomarkers in Spinocerebellar Ataxia: A Pilot Study.
Authors: Brouillette AM, Öz G, Gomez CM Abstract Neurodegenerative diseases, including the spinocerebellar ataxias (SCA), would benefit from the identification of reliable biomarkers that could serve as disease subtype-specific and stage-specific indicators for the development and monitoring of treatments. We analyzed the cerebrospinal fluid (CSF) level of tau, α-synuclein, DJ-1, and glial fibrillary acidic protein (GFAP), proteins previously associated with neurodegenerative processes, in patients with the autosomal dominant SCA1, SCA2, and SCA6, and the sporadic disease multiple system atrophy, cerebellar type ...
Source: Disease Markers - August 15, 2015 Category: Laboratory Medicine Tags: Dis Markers Source Type: research

Cerebellar transcranial direct current stimulation in patients with ataxia: A double‐blind, randomized, sham‐controlled study
ConclusionsA single session of anodal cerebellar transcranial direct current stimulation can transiently improve symptoms in patients with ataxia and might represent a promising tool for future rehabilitative approaches. (Source: Movement Disorders)
Source: Movement Disorders - August 14, 2015 Category: Neurology Authors: Alberto Benussi, Giacomo Koch, Maria Cotelli, Alessandro Padovani, Barbara Borroni Tags: Brief Report Source Type: research

Hemiparetic Gait
The most common pattern of walking impairment poststroke is hemiparetic gait, which is characterized by asymmetry associated with an extensor synergy pattern of hip extension and adduction, knee extension, and ankle plantar flexion and inversion. There are characteristic changes in the spatiotemporal, kinematic and kinetic parameters, and dynamic electromyography patterns in hemiparesis, which may be assessed most accurately in a motion studies laboratory. An understanding of normal human gait is necessary to assess the complex interplay of motor, sensory, and proprioceptive loss; spasticity; and/or ataxia on hemiparetic g...
Source: Physical Medicine and Rehabilitation Clinics of North America - August 14, 2015 Category: Rehabilitation Authors: Lynne R. Sheffler, John Chae Source Type: research

MMACHC gene mutation in familial hypogonadism with neurological symptoms.
In this study, we performed exome sequencing in a family presenting hypergonadotropic hypogonadism with neurological presentations of mental retardation, epilepsy, ataxia, and leukodystrophy. After bioinformatic analysis and Sanger sequencing validation, we identified compound heterozygous mutations: c.482G>A (p.R161Q) and c.609G>A (p.W203X) in MMACHC gene in this pedigree. MMACHC was previously confirmed to be responsible for methylmalonic aciduria (MMA) combined with homocystinuria, cblC type (cblC disease), a hereditary vitamin B12 metabolic disorder. Biochemical and gas chromatography-mass spectrometry (GC-MS) ex...
Source: Gene - August 14, 2015 Category: Genetics & Stem Cells Authors: Shi C, Shang D, Sun S, Mao C, Qin J, Luo H, Shao M, Chen Z, Liu Y, Liu X, Song B, Xu Y Tags: Gene Source Type: research

SUMOylation of the brain-predominant Ataxin-3 isoform modulates its interaction with p97
Conclusions and general significance These findings highlight the role of SUMOylation as a regulator of Atx3 function, with implications on Atx3 protein interaction network and self-assembly, with potential impact for further understanding the molecular mechanisms underlying MJD pathogenesis. (Source: Biochimica et Biophysica Acta (BBA) Molecular Basis of Disease)
Source: Biochimica et Biophysica Acta (BBA) Molecular Basis of Disease - August 13, 2015 Category: Molecular Biology Source Type: research

The great imitator
Conclusion He was given a four week course of oral Doxycycline and started empirically on maxepa. He remained compliant with initial significant improvement in verbal fluency, ataxia and apraxia. He continued to exhibit signs of elation with grandiose plans and sexual disinhibition. He was started on 25 mg of lamotrigine which coincided with improvement in mood control allowing discharge home. Two month follow-up revealed an improvement of ACEIII to 87/100. SPECT also showed significant improvement in cerebral perfusion. A repeat lumbar puncture revealed acellular CSF with a marginally raised protein (0.6 g/dl). ...
Source: Journal of Neurology, Neurosurgery and Psychiatry - August 13, 2015 Category: Neurosurgery Authors: Nair, R., Reading, P., Killilea, K. Tags: Immunology (including allergy), Infection (neurology), Drugs: psychiatry, Memory disorders (psychiatry), Adult intensive care MEMBERS ' POSTERS Source Type: research

Spinocerebellar ataxia type 36 exists in diverse populations and can be caused by a short hexanucleotide GGCCTG repeat expansion
Conclusions SCA36 is rare with a worldwide distribution. It can be caused by a short GGCCTG expansion and associates various extracerebellar symptoms. (Source: Journal of Neurology, Neurosurgery and Psychiatry)
Source: Journal of Neurology, Neurosurgery and Psychiatry - August 13, 2015 Category: Neurosurgery Authors: Obayashi, M., Stevanin, G., Synofzik, M., Monin, M.-L., Duyckaerts, C., Sato, N., Streichenberger, N., Vighetto, A., Desestret, V., Tesson, C., Wichmann, H.-E., Illig, T., Huttenlocher, J., Kita, Y., Izumi, Y., Mizusawa, H., Schols, L., Klopstock, T., Bri Tags: Genetics, Brain stem / cerebellum, Spinal cord, Neuropathology, Memory disorders (psychiatry) Neurogenetics Source Type: research

Planning future clinical trials in Machado-Joseph disease: Lessons from a phase 2 trial
In a recent phase 2 clinical trial in spinocerebellar ataxia type 3/Machado-Joseph disease (SCA3/MJD), a neurogenetic disorder without specific therapy, benefits of lithium carbonate were found only on secondary efficacy outcomes, all related to ataxic features. In order to help designing future studies, we further analyzed the trial data searching for treatment response modifiers and metric properties of spinocerebellar ataxia (SCA) scales. (Source: Journal of the Neurological Sciences)
Source: Journal of the Neurological Sciences - August 13, 2015 Category: Neurology Authors: Jonas Alex Morales Saute, Carlos R.M. Rieder, Raphael Machado Castilhos, Thais Lampert Monte, Artur Francisco Schumacher-Schuh, Karina Carvalho Donis, Rui D’Ávila, Gabriele Nunes Souza, Aline Dutra Russo, Gabriel Vasata Furtado, Tailise Conte Gheno, Di Tags: Clinical Research Paper Source Type: research

Diagnostic Clues to Human Herpesvirus 6 Encephalitis and Wernicke Encephalopathy After Pediatric Hematopoietic Cell Transplantation
Human herpesvirus 6 (HHV6) encephalitis and Wernicke encephalopathy are treatable yet frequently undiagnosed causes of encephalopathy in pediatric recipients of allogeneic and autologous hematopoietic cell transplantation. Here we review representative cases of both conditions to highlight specific and relevant neurologic features that prompted effective diagnosis and treatment. Two patients with confusion accompanied by seizures, memory changes, or specific visual hallucinations and HHV6 detectable by polymerase chain reaction (PCR) in cerebrospinal fluid had improvement in viral load with ganciclovir or foscarnet treatme...
Source: Journal of Child Neurology - August 13, 2015 Category: Neurology Authors: Sadighi, Z., Sabin, N. D., Hayden, R., Stewart, E., Pillai, A. Tags: Original Articles Source Type: research

The Yield of Neuroimaging in Children Presenting to the Emergency Department With Acute Ataxia in the Post-Varicella Vaccine Era
In conclusion, neuroimaging may be indicated for most patients presenting with acute ataxia. Neuroimaging may be deferred in younger children with short duration of symptoms contingent on close follow-up. (Source: Journal of Child Neurology)
Source: Journal of Child Neurology - August 13, 2015 Category: Neurology Authors: Rudloe, T., Prabhu, S. P., Gorman, M. P., Nigrovic, L. E., Harper, M. B., Landschaft, A., Kimia, A. A. Tags: Original Articles Source Type: research