Spinocerebellar ataxias: prospects and challenges for therapy development

Neurochemical abnormalities in premanifest and early spinocerebellar ataxias

(2018) James M. Joers et al.   ANNALS OF NEUROLOGY

Ion channel dysfunction in cerebellar ataxia

(2018) David D. Bushart et al.   NEUROSCIENCE LETTERS

Targeting potassium channels to treat cerebellar ataxia

(2018) David D. Bushart et al.   Annals of Clinical and Translational Neurology

Potassium channel dysfunction underlies Purkinje neuron spiking abnormalities in spinocerebellar ataxia type 2

(2017) James M Dell’Orco et al.   HUMAN MOLECULAR GENETICS

The Anti-CRISPR Story: A Battle for Survival

(2017) Karen L. Maxwell   MOLECULAR CELL

The Revolution Continues: Newly Discovered Systems Expand the CRISPR-Cas Toolkit

(2017) Karthik Murugan et al.   MOLECULAR CELL

CRISPR/Cas9 Editing of the Mutant Huntingtin Allele In Vitro and In Vivo

(2017) Alex Mas Monteys et al.   MOLECULAR THERAPY

Antisense oligonucleotide therapy for spinocerebellar ataxia type 2

(2017) Daniel R. Scoles et al.   NATURE

Polyglutamine tracts regulate beclin 1-dependent autophagy

(2017) Avraham Ashkenazi et al.   NATURE

Refining strategies to translate genome editing to the clinic

(2017) Tatjana I Cornu et al.   NATURE MEDICINE

Polyglutamine spinocerebellar ataxias — from genes to potential treatments

(2017) Henry L. Paulson et al.   NATURE REVIEWS NEUROSCIENCE

Class 2 CRISPR–Cas RNA-guided endonucleases: Swiss Army knives of genome editing

(2017) Stefano Stella et al.   NATURE STRUCTURAL & MOLECULAR BIOLOGY

Clinical and genetic characteristics of sporadic adult-onset degenerative ataxia

(2017) Ilaria Giordano et al.   NEUROLOGY

Translation of Expanded CGG Repeats into FMRpolyG Is Pathogenic and May Contribute to Fragile X Tremor Ataxia Syndrome

(2017) Chantal Sellier et al.   NEURON

Regulatory Role of RNA Chaperone TDP-43 for RNA Misfolding and Repeat-Associated Translation in SCA31

(2017) Taro Ishiguro et al.   NEURON

Identification of early neurodegenerative change in presymptomatic spinocerebellar ataxia type 1: A diffusion tensor imaging study

(2017) Yeon Ji Yoo et al.   PARKINSONISM & RELATED DISORDERS

Class 2 CRISPR–Cas RNA-guided endonucleases: Swiss Army knives of genome editing

(2017) Stefano Stella et al.   NATURE STRUCTURAL & MOLECULAR BIOLOGY

Antisense Oligonucleotide-Mediated Removal of the Polyglutamine Repeat in Spinocerebellar Ataxia Type 3 Mice

(2017) Lodewijk J.A. Toonen et al.   Molecular Therapy-Nucleic Acids

Evaluation of Antisense Oligonucleotides Targeting ATXN3 in SCA3 Mouse Models

(2017) Lauren R. Moore et al.   Molecular Therapy-Nucleic Acids

Peripheral Oxidative Stress Biomarkers in Spinocerebellar Ataxia Type 3/Machado–Joseph Disease

(2017) Adriano M. de Assis et al.   Frontiers in Neurology

Inheritance patterns of ATCCT repeat interruptions in spinocerebellar ataxia type 10 (SCA10) expansions

(2017) Ivette Landrian et al.   PLoS One

RNAi prevents and reverses phenotypes induced by mutant human ataxin-1

(2016) Megan S. Keiser et al.   ANNALS OF NEUROLOGY

ATXN2-AS, a gene antisense toATXN2, is associated with spinocerebellar ataxia type 2 and amyotrophic lateral sclerosis

(2016) Pan P. Li et al.   ANNALS OF NEUROLOGY

Repeat-associated non-AUG translation from antisense CCG repeats in fragile X tremor/ataxia syndrome

(2016) Amy Krans et al.   ANNALS OF NEUROLOGY

Diminishing return for mechanistic therapeutics with neurodegenerative disease duration?

(2016) David C. Rubinsztein et al.   BIOESSAYS

Unbiased screen identifies aripiprazole as a modulator of abundance of the polyglutamine disease protein, ataxin-3

(2016) Maria do Carmo Costa et al.   BRAIN

Sensory and motor cortex function contributes to symptom severity in spinocerebellar ataxia type 6

(2016) Nyeonju Kang et al.   Brain Structure & Function

Local Stability of the Trunk in Patients with Degenerative Cerebellar Ataxia During Walking

(2016) Giorgia Chini et al.   CEREBELLUM

Parametric fMRI of paced motor responses uncovers novel whole-brain imaging biomarkers in spinocerebellar ataxia type 3

(2016) João Valente Duarte et al.   HUMAN BRAIN MAPPING

Ataxin-1 regulates the cerebellar bioenergetics proteome through the GSK3β-mTOR pathway which is altered in Spinocerebellar ataxia type 1 (SCA1)

(2016) Ivelisse Sánchez et al.   HUMAN MOLECULAR GENETICS

In vivo analysis of cerebellar Purkinje cell activity in SCA2 transgenic mouse model

(2016) Polina A. Egorova et al.   JOURNAL OF NEUROPHYSIOLOGY

Prolonged Type 1 Metabotropic Glutamate Receptor Dependent Synaptic Signaling Contributes to Spino-Cerebellar Ataxia Type 1

(2016) Emmet M. Power et al.   JOURNAL OF NEUROSCIENCE

Modulation of Molecular Chaperones in Huntington’s Disease and Other Polyglutamine Disorders

(2016) Sara D. Reis et al.   MOLECULAR NEUROBIOLOGY

Spinocerebellar ataxia type 2: Measures of saccade changes improve power for clinical trials

(2016) Roberto Rodríguez-Labrada et al.   MOVEMENT DISORDERS

Individual changes in preclinical spinocerebellar ataxia identified via increased motor complexity

(2016) Winfried Ilg et al.   MOVEMENT DISORDERS

Rare neurological channelopathies — networks to study patients, pathogenesis and treatment

(2016) Joanna C. Jen et al.   Nature Reviews Neurology

Promoter Variation and Expression Levels of Inflammatory Genes IL1A, IL1B, IL6 and TNF in Blood of Spinocerebellar Ataxia Type 3 (SCA3) Patients

(2016) Mafalda Raposo et al.   NEUROMOLECULAR MEDICINE

BIIB021, a synthetic Hsp90 inhibitor, induces mutant ataxin-1 degradation through the activation of heat shock factor 1

(2016) Ying Ding et al.   NEUROSCIENCE

Validity of a wearable accelerometer to quantify gait in spinocerebellar ataxia type 6

(2016) Aodhán Hickey et al.   PHYSIOLOGICAL MEASUREMENT

An miRNA-mediated therapy for SCA6 blocks IRES-driven translation of the CACNA1A second cistron

(2016) Yu Miyazaki et al.   Science Translational Medicine

Activity-Dependent Plasticity of Spike Pauses in Cerebellar Purkinje Cells

(2016) Giorgio Grasselli et al.   Cell Reports

Fibroblasts of Machado Joseph Disease patients reveal autophagy impairment

(2016) Isabel Onofre et al.   Scientific Reports

4-aminopyridine reverses ataxia and cerebellar firing deficiency in a mouse model of spinocerebellar ataxia type 6

(2016) Sriram Jayabal et al.   Scientific Reports

Progression of Microstructural Damage in Spinocerebellar Ataxia Type 2: A Longitudinal DTI Study

(2015) M. Mascalchi et al.   AMERICAN JOURNAL OF NEURORADIOLOGY

Cycling Regimen Induces Spinal Circuitry Plasticity and Improves Leg Muscle Coordination in Individuals With Spinocerebellar Ataxia

(2015) Ya-Ju Chang et al.   ARCHIVES OF PHYSICAL MEDICINE AND REHABILITATION

Analysis of SCA8, SCA10, SCA12, SCA17 and SCA19 in patients with unknown spinocerebellar ataxia: a Thai multicentre study

(2015) Lulin Choubtum et al.   BMC Neurology

Serotonergic signalling suppresses ataxin 3 aggregation and neurotoxicity in animal models of Machado-Joseph disease

(2015) Andreia Teixeira-Castro et al.   BRAIN

Cytokines in Machado Joseph Disease/Spinocerebellar Ataxia 3

(2015) Gerson da Silva Carvalho et al.   CEREBELLUM

Early Cerebellar Network Shifting in Spinocerebellar Ataxia Type 6

(2015) M.I. Falcon et al.   CEREBRAL CORTEX

Cerebrospinal Fluid Biomarkers in Spinocerebellar Ataxia: A Pilot Study

(2015) Ashley M. Brouillette et al.   DISEASE MARKERS

DnaJ-1 and karyopherin α3 suppress degeneration in a newDrosophilamodel of Spinocerebellar Ataxia Type 6

(2015) Wei-Ling Tsou et al.   HUMAN MOLECULAR GENETICS

Gene suppression strategies for dominantly inherited neurodegenerative diseases: lessons from Huntington's disease and spinocerebellar ataxia

(2015) Megan S. Keiser et al.   HUMAN MOLECULAR GENETICS

An investigation of diffusion imaging techniques in the evaluation of spinocerebellar ataxia and multisystem atrophy

(2015) Michael N. Rozenfeld et al.   JOURNAL OF CLINICAL NEUROSCIENCE

Planning future clinical trials in Machado Joseph disease: Lessons from a phase 2 trial

(2015) Jonas Alex Morales Saute et al.   JOURNAL OF THE NEUROLOGICAL SCIENCES

Riluzole in patients with hereditary cerebellar ataxia: a randomised, double-blind, placebo-controlled trial

(2015) Silvia Romano et al.   LANCET NEUROLOGY

Long-term disease progression in spinocerebellar ataxia types 1, 2, 3, and 6: a longitudinal cohort study

(2015) Heike Jacobi et al.   LANCET NEUROLOGY

Test-retest reproducibility of neurochemical profiles with short-echo, single-voxel MR spectroscopy at 3T and 7T

(2015) Melissa Terpstra et al.   MAGNETIC RESONANCE IN MEDICINE

In vivo neurometabolic profiling in patients with spinocerebellar ataxia types 1, 2, 3, and 7

(2015) Isaac M. Adanyeguh et al.   MOVEMENT DISORDERS

Assessing recovery from neurodegeneration in spinocerebellar ataxia 1: Comparison of in vivo magnetic resonance spectroscopy with motor testing, gene expression and histology

(2015) Gülin Öz et al.   NEUROBIOLOGY OF DISEASE

The preclinical stage of spinocerebellar ataxias

(2015) Roderick P.P.W.M. Maas et al.   NEUROLOGY

Multi-center reproducibility of neurochemical profiles in the human brain at 7 T

(2015) B. L. van de Bank et al.   NMR IN BIOMEDICINE

SMRT Sequencing of Long Tandem Nucleotide Repeats in SCA10 Reveals Unique Insight of Repeat Expansion Structure

(2015) Karen N. McFarland et al.   PLoS One

Repeat Associated Non-AUG Translation (RAN Translation) Dependent on Sequence Downstream of the ATXN2 CAG Repeat

(2015) Daniel R. Scoles et al.   PLoS One

The autophagy/lysosome pathway is impaired in SCA7 patients and SCA7 knock-in mice

(2014) Sandro Alves et al.   ACTA NEUROPATHOLOGICA

Modulation of the age at onset in spinocerebellar ataxia by CAG tracts in various genes

(2014) Sophie Tezenas du Montcel et al.   BRAIN

Executive deficit in spinocerebellar ataxia type 2 is related to expanded CAG repeats: Evidence from antisaccadic eye movements

(2014) Roberto Rodríguez-Labrada et al.   BRAIN AND COGNITION

EFNS/ENS Consensus on the diagnosis and management of chronic ataxias in adulthood

(2014) B. P. C. van de Warrenburg et al.   EUROPEAN JOURNAL OF NEUROLOGY

Gait adaptability training improves obstacle avoidance and dynamic stability in patients with cerebellar degeneration

(2014) Ella M.R. Fonteyn et al.   GAIT & POSTURE

Role of glutathione S-transferases in the spinocerebellar ataxia type 2 clinical phenotype

(2014) D. Almaguer-Gotay et al.   JOURNAL OF THE NEUROLOGICAL SCIENCES

Two-site reproducibility of cerebellar and brainstem neurochemical profiles with short-echo, single-voxel MRS at 3T

(2014) Dinesh K. Deelchand et al.   MAGNETIC RESONANCE IN MEDICINE

Broad Therapeutic Benefit After RNAi Expression Vector Delivery to Deep Cerebellar Nuclei: Implications for Spinocerebellar Ataxia Type 1 Therapy

(2014) Megan S Keiser et al.   MOLECULAR THERAPY

Nonallele Specific Silencing of Ataxin-7 Improves Disease Phenotypes in a Mouse Model of SCA7

(2014) Pavitra S Ramachandran et al.   MOLECULAR THERAPY

The APOE ε2 allele may decrease the age at onset in patients with spinocerebellar ataxia type 3 or Machado-Joseph disease from the Chinese Han population

(2014) Huirong Peng et al.   NEUROBIOLOGY OF AGING

The Global Epidemiology of Hereditary Ataxia and Spastic Paraplegia: A Systematic Review of Prevalence Studies

(2014) Luis Ruano et al.   NEUROEPIDEMIOLOGY

NINDS Translational Programs: Priming the Pump of Neurotherapeutics Discovery and Development

(2014) Rajesh Ranganathan   NEURON

Oligonucleotide-based strategies to combat polyglutamine diseases

(2014) A. Fiszer et al.   NUCLEIC ACIDS RESEARCH

RNA Interference Mitigates Motor and Neuropathological Deficits in a Cerebellar Mouse Model of Machado-Joseph Disease

(2014) Clévio Nóbrega et al.   PLoS One

Clinical Proton MR Spectroscopy in Central Nervous System Disorders

(2014) Gülin Öz et al.   RADIOLOGY

Genotype-specific patterns of atrophy progression are more sensitive than clinical decline in SCA1, SCA3 and SCA6

(2013) Kathrin Reetz et al.   BRAIN

Expression of Expanded CAG Transcripts Triggers Nucleolar Stress in Huntington's Disease

(2013) Ho Tsoi et al.   CEREBELLUM

Consensus Paper: Management of Degenerative Cerebellar Disorders

(2013) W. Ilg et al.   CEREBELLUM

Spinocerebellar Ataxias in Brazil—Frequencies and Modulating Effects of Related Genes

(2013) Raphael Machado de Castilhos et al.   CEREBELLUM

Optical coherence tomography findings in spinocerebellar ataxia-3

(2013) G Alvarez et al.   EYE

Non-invasive detection of neurochemical changes prior to overt pathology in a mouse model of spinocerebellar ataxia type 1

(2013) Uzay E. Emir et al.   JOURNAL OF NEUROCHEMISTRY

Experience in a short-term trial with 4-Aminopyridine in cerebellar ataxia

(2013) I. Giordano et al.   JOURNAL OF NEUROLOGY

The effectiveness of allied health care in patients with ataxia: a systematic review

(2013) Ella M. R. Fonteyn et al.   JOURNAL OF NEUROLOGY

Biological and clinical characteristics of individuals at risk for spinocerebellar ataxia types 1, 2, 3, and 6 in the longitudinal RISCA study: analysis of baseline data

(2013) Heike Jacobi et al.   LANCET NEUROLOGY

Toward RNAi Therapy for the Polyglutamine Disease Machado–Joseph Disease

(2013) Maria do Carmo Costa et al.   MOLECULAR THERAPY

Silencing Mutant ATXN3 Expression Resolves Molecular Phenotypes in SCA3 Transgenic Mice

(2013) Edgardo Rodríguez-Lebrón et al.   MOLECULAR THERAPY

A multimodal evaluation of microstructural white matter damage in spinocerebellar ataxia type 3

(2013) Rachel P. Guimarães et al.   MOVEMENT DISORDERS

RAS–MAPK–MSK1 pathway modulates ataxin 1 protein levels and toxicity in SCA1

(2013) Jeehye Park et al.   NATURE

Repeat interruptions in spinocerebellar ataxia type 10 expansions are strongly associated with epileptic seizures

(2013) Karen N. McFarland et al.   NEUROGENETICS

Clinical characteristics of patients with spinocerebellar ataxias 1, 2, 3 and 6 in the US; a prospective observational study

(2013) Tetsuo Ashizawa et al.   Orphanet Journal of Rare Diseases

Pharmacological enhancement of mGlu1 metabotropic glutamate receptors causes a prolonged symptomatic benefit in a mouse model of spinocerebellar ataxia type 1

(2013) Serena Notartomaso et al.   Molecular Brain

Hsp104 Suppresses Polyglutamine-Induced Degeneration Post Onset in a Drosophila MJD/SCA3 Model

(2013) Mimi Cushman-Nick et al.   PLoS Genetics

The Role of Interruptions in polyQ in the Pathology of SCA1

(2013) Rajesh P. Menon et al.   PLoS Genetics

Factors Influencing Disease Progression in Autosomal Dominant Cerebellar Ataxia and Spastic Paraplegia

(2012) Perrine Charles   ARCHIVES OF NEUROLOGY

Magnetic Resonance Imaging Biomarkers in Patients with Progressive Ataxia: Current Status and Future Direction

(2012) Stuart Currie et al.   CEREBELLUM

Selective Positive Modulator of Calcium-Activated Potassium Channels Exerts Beneficial Effects in a Mouse Model of Spinocerebellar Ataxia Type 2

(2012) Adebimpe W. Kasumu et al.   CHEMISTRY & BIOLOGY

Reduction of mutant ataxin-7 expression restores motor function and prevents cerebellar synaptic reorganization in a conditional mouse model of SCA7

(2012) S. A. Furrer et al.   HUMAN MOLECULAR GENETICS

Cerebellar Ataxia by Enhanced CaV2.1 Currents Is Alleviated by Ca2+-Dependent K+-Channel Activators in Cacna1aS218L Mutant Mice

(2012) Z. Gao et al.   JOURNAL OF NEUROSCIENCE

Video game-based coordinative training improves ataxia in children with degenerative ataxia

(2012) W. Ilg et al.   NEUROLOGY

SK2 Channel Modulation Contributes to Compartment-Specific Dendritic Plasticity in Cerebellar Purkinje Cells

(2012) Gen Ohtsuki et al.   NEURON

Spinocerebellar Ataxia Types 1, 2, 3 and 6: the Clinical Spectrum of Ataxia and Morphometric Brainstem and Cerebellar Findings

(2011) Heike Jacobi et al.   CEREBELLUM

Ataxia Rating Scales—Psychometric Profiles, Natural History and Their Application in Clinical Trials

(2011) Jonas Alex Morales Saute et al.   CEREBELLUM

Quantification of Circulating Plasma DNA in Friedreich's Ataxia and Spinocerebellar Ataxia Types 2 and 12

(2011) Vishnu Swarup et al.   DNA AND CELL BIOLOGY

In vivo monitoring of recovery from neurodegeneration in conditional transgenic SCA1 mice

(2011) Gülin Öz et al.   EXPERIMENTAL NEUROLOGY

Genes and pathways affected by CAG-repeat RNA-based toxicity in Drosophila

(2011) Shin-Yi Shieh et al.   HUMAN MOLECULAR GENETICS

Ataxin-2 repeat-length variation and neurodegeneration

(2011) O. A. Ross et al.   HUMAN MOLECULAR GENETICS

Neocortical Atrophy in Machado-Joseph Disease: A Longitudinal Neuroimaging Study

(2011) Anelyssa D’Abreu et al.   JOURNAL OF NEUROIMAGING

Aminopyridines Correct Early Dysfunction and Delay Neurodegeneration in a Mouse Model of Spinocerebellar Ataxia Type 1

(2011) R. Hourez et al.   JOURNAL OF NEUROSCIENCE

SK2 channel expression and function in cerebellar Purkinje cells

(2011) Eric Hosy et al.   JOURNAL OF PHYSIOLOGY-LONDON

Saccadic latency is prolonged in Spinocerebellar Ataxia type 2 and correlates with the frontal-executive dysfunctions

(2011) Roberto Rodríguez-Labrada et al.   JOURNAL OF THE NEUROLOGICAL SCIENCES

Objective home-based gait assessment in spinocerebellar ataxia

(2011) S.H. Subramony et al.   JOURNAL OF THE NEUROLOGICAL SCIENCES

Quantitative assessment of the evolution of cerebellar signs in spinocerebellar ataxias

(2011) Ellis Chan et al.   MOVEMENT DISORDERS

Retinal Nerve Fibre Layer and Macular Thinning in Spinocerebellar Ataxia and Cerebellar Multisystem Atrophy

(2011) John H. Pula et al.   NEURO-OPHTHALMOLOGY

Sleep Disorders in Spinocerebellar Ataxia Type 2 Patients

(2011) Luis Velázquez-Pérez et al.   Neurodegenerative Diseases

A randomized trial of 4-aminopyridine in EA2 and related familial episodic ataxias

(2011) M. Strupp et al.   NEUROLOGY

CTCF Regulates Ataxin-7 Expression through Promotion of a Convergently Transcribed, Antisense Noncoding RNA

(2011) Bryce L. Sopher et al.   NEURON

Hereditary ataxias and paraplegias in Valle ďAosta, Italy: a study of prevalence and disability

(2010) M. Leone et al.   ACTA NEUROLOGICA SCANDINAVICA

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

Loss of Intrinsic Organization of Cerebellar Networks in Spinocerebellar Ataxia Type 1: Correlates with Disease Severity and Duration

(2010) Ana Solodkin et al.   CEREBELLUM

Distinct Neurochemical Profiles of Spinocerebellar Ataxias 1, 2, 6, and Cerebellar Multiple System Atrophy

(2010) Gülin Öz et al.   CEREBELLUM

Induction of Molecular Chaperones as a Therapeutic Strategy for the Polyglutamine Diseases

(2010) Yoshitaka Nagai et al.   CURRENT PHARMACEUTICAL BIOTECHNOLOGY

Silencing ataxin-3 mitigates degeneration in a rat model of Machado–Joseph disease: no role for wild-type ataxin-3?

(2010) Sandro Alves et al.   HUMAN MOLECULAR GENETICS

Noninvasive Detection of Presymptomatic and Progressive Neurodegeneration in a Mouse Model of Spinocerebellar Ataxia Type 1

(2010) G. Oz et al.   JOURNAL OF NEUROSCIENCE

Excessive daytime somnolence in spinocerebellar ataxia type 1

(2010) Dien Dang et al.   JOURNAL OF THE NEUROLOGICAL SCIENCES

Progression markers of Spinocerebellar Ataxia 2. A twenty years neurophysiological follow up study

(2010) Luis Velázquez-Perez et al.   JOURNAL OF THE NEUROLOGICAL SCIENCES

Subtle rapid eye movement sleep abnormalities in presymptomatic spinocerebellar ataxia type 2 gene carriers

(2010) Roberto Rodríguez-Labrada et al.   MOVEMENT DISORDERS

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

(2010) Gülin Öz et al.   MOVEMENT DISORDERS

Ataxin-2 intermediate-length polyglutamine expansions are associated with increased risk for ALS

(2010) Andrew C. Elden et al.   NATURE

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

Non-ATG-initiated translation directed by microsatellite expansions

(2010) T. Zu et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Partial Loss of Ataxin-1 Function Contributes to Transcriptional Dysregulation in Spinocerebellar Ataxia Type 1 Pathogenesis

(2010) Juan Crespo-Barreto et al.   PLoS Genetics

Periodic Alternating Nystagmus and Periodic Alternating Skew Deviation in Spinocerebellar Ataxia Type 6

(2009) Chaim B Colen et al.   JOURNAL OF NEURO-OPHTHALMOLOGY

Deranged Calcium Signaling and Neurodegeneration in Spinocerebellar Ataxia Type 2

(2009) J. Liu et al.   JOURNAL OF NEUROSCIENCE

Sustained-release oral fampridine in multiple sclerosis: a randomised, double-blind, controlled trial

(2009) Andrew D Goodman et al.   LANCET

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

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

Continuous base identification for single-molecule nanopore DNA sequencing

(2009) James Clarke et al.   Nature Nanotechnology

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

Cerebellar stroke without motor deficit: clinical evidence for motor and non-motor domains within the human cerebellum

(2009) J.D. Schmahmann et al.   NEUROSCIENCE

Motor Decline in Clinically Presymptomatic Spinocerebellar Ataxia Type 2 Gene Carriers

(2009) Luis Velázquez-Perez et al.   PLoS One

Composite cerebellar functional severity score: validation of a quantitative score of cerebellar impairment

(2008) Sophie Tezenas du Montcel et al.   BRAIN

The clinical diagnosis of autosomal dominant spinocerebellar ataxias

(2008) Thomas Klockgether   CEREBELLUM

Bidirectional expression of the SCA8 expansion mutation: One mutation, two genes

(2008) Yoshio Ikeda et al.   CEREBELLUM

Clinical, genetic, molecular, and pathophysiological insights into spinocerebellar ataxia type 1

(2008) Antoni Matilla-Dueñas et al.   CEREBELLUM

A neurological examination score for the assessment of spinocerebellar ataxia 3 (SCA3)

(2008) C. Kieling et al.   EUROPEAN JOURNAL OF NEUROLOGY

Pathogenic Mechanisms of a Polyglutamine-mediated Neurodegenerative Disease, Spinocerebellar Ataxia Type 1

(2008) Huda Y. Zoghbi et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Deranged Calcium Signaling and Neurodegeneration in Spinocerebellar Ataxia Type 3

(2008) X. Chen et al.   JOURNAL OF NEUROSCIENCE

RNA toxicity is a component of ataxin-3 degeneration in Drosophila

(2008) Ling-Bo Li et al.   NATURE

In vivo suppression of polyglutamine neurotoxicity by C-terminus of Hsp70-interacting protein (CHIP) supports an aggregation model of pathogenesis

(2008) Aislinn J. Williams et al.   NEUROBIOLOGY OF DISEASE

Brain white matter damage in SCA1 and SCA2. An in vivo study using voxel-based morphometry, histogram analysis of mean diffusivity and tract-based spatial statistics

(2008) Riccardo Della Nave et al.   NEUROIMAGE

SCA Functional Index: A useful compound performance measure for spinocerebellar ataxia

(2008) T. Schmitz-Hubsch et al.   NEUROLOGY

Intrafamilial variability of Parkinson phenotype in SCAs: Novel cases due to SCA2 and SCA3 expansions

(2008) M.P. Socal et al.   PARKINSONISM & RELATED DISORDERS

Allele-Specific RNA Silencing of Mutant Ataxin-3 Mediates Neuroprotection in a Rat Model of Machado-Joseph Disease

(2008) Sandro Alves et al.   PLoS One