Update on degenerative ataxias

Rundataxin, a novel protein with RUN and diacylglycerol binding domains, is mutant in a new recessive ataxia

(2011) Mirna Assoum et al.   BRAIN

Quantitative assessment of the evolution of cerebellar signs in spinocerebellar ataxias

(2011) Ellis Chan et al.   MOVEMENT DISORDERS

CAG Repeats Determine Brain Atrophy in Spinocerebellar Ataxia 17: A VBM Study

(2011) Kathrin Reetz et al.   PLoS One

Mutations in ABHD12 Cause the Neurodegenerative Disease PHARC: An Inborn Error of Endocannabinoid Metabolism

(2010) Torunn Fiskerstrand et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Prodynorphin Mutations Cause the Neurodegenerative Disorder Spinocerebellar Ataxia Type 23

(2010) Georgy Bakalkin et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Targeted Next-Generation Sequencing of a 12.5 Mb Homozygous Region Reveals ANO10 Mutations in Patients with Autosomal-Recessive Cerebellar Ataxia

(2010) Sascha Vermeer et al.   AMERICAN JOURNAL OF HUMAN GENETICS

A Phase 3, Double-blind, Placebo-Controlled Trial of Idebenone in Friedreich Ataxia

(2010) David R. Lynch et al.   ARCHIVES OF NEUROLOGY

Paraneoplastic Neurologic Syndrome in the PNS Euronetwork Database

(2010) Bruno Giometto   ARCHIVES OF NEUROLOGY

TGM6 identified as a novel causative gene of spinocerebellar ataxias using exome sequencing

(2010) Jun Ling Wang et al.   BRAIN

Occupational therapy in spinocerebellar ataxia type 3: an open-label trial

(2010) R.C.R. Silva et al.   BRAZILIAN JOURNAL OF MEDICAL AND BIOLOGICAL RESEARCH

Screening for tumours in paraneoplastic syndromes: report of an EFNS Task Force

(2010) M. J. Titulaer et al.   EUROPEAN JOURNAL OF NEUROLOGY

EFNS guidelines for diagnosis, therapy and prevention of Wernicke encephalopathy

(2010) R. Galvin et al.   EUROPEAN JOURNAL OF NEUROLOGY

Repeat Expansion Affects Both Transcription Initiation and Elongation in Friedreich Ataxia Cells

(2010) Daman Kumari et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

A myxoid chondrosarcoma associated with an anti-Hu-positive paraneoplastic encephalomyelitis

(2010) Michael Hoosien et al.   JOURNAL OF NEURO-ONCOLOGY

Antineuronal autoantibodies in paraneoplastic cerebellar degeneration associated with adenocarcinoma of the prostate

(2010) John E. Greenlee et al.   JOURNAL OF THE NEUROLOGICAL SCIENCES

Long-term effects of coordinative training in degenerative cerebellar disease

(2010) Winfried Ilg et al.   MOVEMENT DISORDERS

Self-rated health status in spinocerebellar ataxia-Results from a European multicenter study

(2010) Tanja Schmitz-Hübsch et al.   MOVEMENT DISORDERS

Measuring the rate of progression in Friedreich ataxia: Implications for clinical trial design

(2010) Lisa S. Friedman et al.   MOVEMENT DISORDERS

Neurochemical alterations in spinocerebellar ataxia type 1 and their correlations with clinical status

(2010) Gülin Öz et al.   MOVEMENT DISORDERS

Mutations in the mitochondrial protease gene AFG3L2 cause dominant hereditary ataxia SCA28

(2010) Daniela Di Bella et al.   NATURE GENETICS

Gray and white matter alterations in spinocerebellar ataxia type 7: An in vivo DTI and VBM study

(2010) Sarael Alcauter et al.   NEUROIMAGE

Responsiveness of different rating instruments in spinocerebellar ataxia patients

(2010) T. Schmitz-Hubsch et al.   NEUROLOGY

Riluzole in cerebellar ataxia: A randomized, double-blind, placebo-controlled pilot trial

(2010) G. Ristori et al.   NEUROLOGY

Health-Related Quality of Life in Children With Friedreich Ataxia

(2010) Erin K. Paulsen et al.   PEDIATRIC NEUROLOGY

Flavin Adenine Dinucleotide Rescues the Phenotype of Frataxin Deficiency

(2010) Pilar Gonzalez-Cabo et al.   PLoS One

Two New Pimelic Diphenylamide HDAC Inhibitors Induce Sustained Frataxin Upregulation in Cells from Friedreich's Ataxia Patients and in a Mouse Model

(2010) Myriam Rai et al.   PLoS One

Spinocerebellar Ataxia Type 31 Is Associated with “Inserted” Penta-Nucleotide Repeats Containing (TGGAA)n

(2009) Nozomu Sato et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Physiological and Focal Cerebellar Substrates of Abnormal Postural Sway and Tremor in Alcoholic Women

(2009) Edith V. Sullivan et al.   BIOLOGICAL PSYCHIATRY

Ataxia with oculomotor apraxia type 2: clinical, biological and genotype/phenotype correlation study of a cohort of 90 patients

(2009) M. Anheim et al.   BRAIN

Prevalence of hereditary ataxia and spastic paraplegia in southeast Norway: a population-based study

(2009) A. K. Erichsen et al.   BRAIN

Paraneoplastic syndromes in patients with primary oral cancers: a systematic review

(2009) David Chapireau et al.   BRITISH JOURNAL OF ORAL & MAXILLOFACIAL SURGERY

Yeast frataxin mutants display decreased superoxide dismutase activity crucial to promote protein oxidative damage

(2009) Verónica Irazusta et al.   FREE RADICAL BIOLOGY AND MEDICINE

Frataxin interacts with Isu1 through a conserved tryptophan in its β-sheet

(2009) Sébastien Leidgens et al.   HUMAN MOLECULAR GENETICS

Functional role for senataxin, defective in ataxia oculomotor apraxia type 2, in transcriptional regulation

(2009) Amila Suraweera et al.   HUMAN MOLECULAR GENETICS

Functional genomic analysis of frataxin deficiency reveals tissue-specific alterations and identifies the PPARγ pathway as a therapeutic target in Friedreich’s ataxia

(2009) Giovanni Coppola et al.   HUMAN MOLECULAR GENETICS

A comparison of three measures of upper limb function in Friedreich ataxia

(2009) L. A. Corben et al.   JOURNAL OF NEUROLOGY

Antineuronal antibodies in sporadic late-onset cerebellar ataxia

(2009) K. Bürk et al.   JOURNAL OF NEUROLOGY

The genetic aetiology of late-onset chronic progressive cerebellar ataxia

(2009) Mark Wardle et al.   JOURNAL OF NEUROLOGY

Comparison of three clinical rating scales in Friedreich ataxia (FRDA)

(2009) Katrin Bürk et al.   MOVEMENT DISORDERS

Development of a brief ataxia rating scale (BARS) based on a modified form of the ICARS

(2009) Jeremy D. Schmahmann et al.   MOVEMENT DISORDERS

Epidemiological, clinical, paraclinical and molecular study of a cohort of 102 patients affected with autosomal recessive progressive cerebellar ataxia from Alsace, Eastern France: implications for clinical management

(2009) M. Anheim et al.   NEUROGENETICS

Patterns of fractional anisotropy changes in white matter of cerebellar peduncles distinguish spinocerebellar ataxia-1 from multiple system atrophy and other ataxia syndromes

(2009) Neal Prakash et al.   NEUROIMAGE

Visualization, quantification and correlation of brain atrophy with clinical symptoms in spinocerebellar ataxia types 1, 3 and 6

(2009) Jörg B. Schulz et al.   NEUROIMAGE

Intensive coordinative training improves motor performance in degenerative cerebellar disease

(2009) W. Ilg et al.   NEUROLOGY

Elucidation of the mechanism of mitochondrial iron loading in Friedreich's ataxia by analysis of a mouse mutant

(2009) M. L.-H. Huang et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Sporadic ataxias in Japan – a population-based epidemiological study

(2008) Shoji Tsuji et al.   CEREBELLUM

Distribution of cerebello-olivary degeneration in idiopathic late cortical cerebellar atrophy: Clinicopathological study of four autopsy cases

(2008) Satoru Ota et al.   NEUROPATHOLOGY