Spinocerebellar ataxia: an update

Frequency of SCA8, SCA10, SCA12, SCA36, FXTAS and C9orf72 repeat expansions in SCA patients negative for the most common SCA subtypes

(2018) Gülsah Aydin et al.   BMC Neurology

Updated frequency analysis of spinocerebellar ataxia in China

(2018) Zhao Chen et al.   BRAIN

Clinical, genetic and neuropathological characterization of spinocerebellar ataxia type 37

(2018) Marc Corral-Juan et al.   BRAIN

A Mild PUM1 Mutation Is Associated with Adult-Onset Ataxia, whereas Haploinsufficiency Causes Developmental Delay and Seizures

(2018) Vincenzo A. Gennarino et al.   CELL

Spinocerebellar Ataxia Tethering PCR

(2018) Claudia Cagnoli et al.   JOURNAL OF MOLECULAR DIAGNOSTICS

Genotype-phenotype correlations, dystonia and disease progression in spinocerebellar ataxia type 14

(2018) Viorica Chelban et al.   MOVEMENT DISORDERS

Efficacy of Exome-Targeted Capture Sequencing to Detect Mutations in Known Cerebellar Ataxia Genes

(2018) Marie Coutelier et al.   JAMA Neurology

Looking beyond the exome: a phenotype-first approach to molecular diagnostic resolution in rare and undiagnosed diseases

(2017) Loren D M Pena et al.   GENETICS IN MEDICINE

Detection of long repeat expansions from PCR-free whole-genome sequence data

(2017) Egor Dolzhenko et al.   GENOME RESEARCH

Evidence of oxidative stress and mitochondrial dysfunction in spinocerebellar ataxia type 2 (SCA2) patient fibroblasts: Effect of coenzyme Q10 supplementation on these parameters

(2017) Nanna Cornelius et al.   MITOCHONDRION

Therapeutic reduction of ataxin-2 extends lifespan and reduces pathology in TDP-43 mice

(2017) Lindsay A. Becker et al.   NATURE

Polyglutamine tracts regulate beclin 1-dependent autophagy

(2017) Avraham Ashkenazi et al.   NATURE

Polyglutamine spinocerebellar ataxias — from genes to potential treatments

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

Clinical application of next generation sequencing in hereditary spinocerebellar ataxia: increasing the diagnostic yield and broadening the ataxia-spasticity spectrum. A retrospective analysis

(2017) Daniele Galatolo et al.   NEUROGENETICS

Antisense Oligonucleotides: Translation from Mouse Models to Human Neurodegenerative Diseases

(2017) Kathleen M. Schoch et al.   NEURON

Neurological phenotypes in spinocerebellar ataxia type 2: Role of mitochondrial polymorphism A10398G and other risk factors

(2017) Thais Lampert Monte et al.   PARKINSONISM & RELATED DISORDERS

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

DNA repair pathways underlie a common genetic mechanism modulating onset in polyglutamine diseases

(2016) Conceição Bettencourt et al.   ANNALS OF NEUROLOGY

SCA28: Novel Mutation in the AFG3L2 Proteolytic Domain Causes a Mild Cerebellar Syndrome with Selective Type-1 Muscle Fiber Atrophy

(2016) Kirsten Svenstrup et al.   CEREBELLUM

Fan1deficiency results in DNA interstrand cross-link repair defects, enhanced tissue karyomegaly, and organ dysfunction

(2016) Supawat Thongthip et al.   GENES & DEVELOPMENT

Spinocerebellar ataxia type 3 in Israel: phenotype and genotype of a Jew Yemenite subpopulation

(2016) Roy Zaltzman et al.   JOURNAL OF NEUROLOGY

Nomenclature of genetic movement disorders: Recommendations of the international Parkinson and movement disorder society task force

(2016) Connie Marras et al.   MOVEMENT DISORDERS

Degenerative ataxias, from genes to therapies

(2016) Stefan M. Pulst   NEUROLOGY

Antisense oligonucleotide-mediated exon skipping as a strategy to reduce proteolytic cleavage of ataxin-3

(2016) Lodewijk J. A. Toonen et al.   Scientific Reports

Fibroblasts of Machado Joseph Disease patients reveal autophagy impairment

(2016) Isabel Onofre et al.   Scientific Reports

Pharmacokinetics, biodistribution and cell uptake of antisense oligonucleotides

(2015) Richard S. Geary et al.   ADVANCED DRUG DELIVERY REVIEWS

A Recurrent Mutation in CACNA1G Alters Cav3.1 T-Type Calcium-Channel Conduction and Causes Autosomal-Dominant Cerebellar Ataxia

(2015) Marie Coutelier et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Identification of Genetic Factors that Modify Clinical Onset of Huntington’s Disease

(2015) Jong-Min Lee et al.   CELL

The Precision Medicine Initiative

(2015) Euan A. Ashley   JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION

Spinocerebellar ataxias in Venezuela: genetic epidemiology and their most likely ethnic descent

(2015) Irene Paradisi et al.   JOURNAL OF HUMAN GENETICS

Genetic landscape remodelling in spinocerebellar ataxias: the influence of next-generation sequencing

(2015) Marie Coutelier et al.   JOURNAL OF NEUROLOGY

Prevalence of neurogenetic disorders in the North of England

(2015) David Bargiela et al.   NEUROLOGY

A mutation in the low voltage-gated calcium channel CACNA1G alters the physiological properties of the channel, causing spinocerebellar ataxia

(2015) Hiroyuki Morino et al.   Molecular Brain

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

(2014) Sandro Alves et al.   ACTA NEUROPATHOLOGICA

ELOVL5 Mutations Cause Spinocerebellar Ataxia 38

(2014) Eleonora Di Gregorio et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Episodic ataxia type 1: clinical characterization, quality of life and genotype–phenotype correlation

(2014) Tracey D. Graves et al.   BRAIN

Autosomal dominant cerebellar ataxias: a systematic review of clinical features

(2014) M. Rossi et al.   EUROPEAN JOURNAL OF NEUROLOGY

Modifiers of (CAG)n instability in Machado–Joseph disease (MJD/SCA3) transmissions: an association study with DNA replication, repair and recombination genes

(2014) Sandra Martins et al.   HUMAN GENETICS

A blinded international study on the reliability of genetic testing for GGGGCC-repeat expansions inC9orf72reveals marked differences in results among 14 laboratories

(2014) Chizuru Akimoto et al.   JOURNAL OF MEDICAL GENETICS

A novel missense mutation inCCDC88Cactivates the JNK pathway and causes a dominant form of spinocerebellar ataxia

(2014) Ho Tsoi et al.   JOURNAL OF MEDICAL GENETICS

Spinocerebellar ataxia type 36 exists in diverse populations and can be caused by a short hexanucleotide GGCCTG repeat expansion

(2014) Masato Obayashi et al.   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

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

(2014) Pavitra S Ramachandran et al.   MOLECULAR THERAPY

Do mutations in the murine ataxia geneTRPC3cause cerebellar ataxia in humans?

(2014) Brent L. Fogel et al.   MOVEMENT DISORDERS

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

(2014) Luis Ruano et al.   NEUROEPIDEMIOLOGY

Spinocerebellar ataxia 35: Novel mutations in TGM6 with clinical and genetic characterization

(2014) Y.-C. Guo et al.   NEUROLOGY

Expanding the Clinical Phenotype Associated WithELOVL4Mutation

(2014) Maxime Cadieux-Dion et al.   JAMA Neurology

Isaac: ultra-fast whole-genome secondary analysis on Illumina sequencing platforms

(2013) Come Raczy et al.   BIOINFORMATICS

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

(2013) Raphael Machado de Castilhos et al.   CEREBELLUM

Safety and Efficacy of Umbilical Cord Mesenchymal Stem Cell Therapy in Hereditary Spinocerebellar Ataxia

(2013) Jia-Li Jin et al.   CURRENT NEUROVASCULAR RESEARCH

Toward RNAi Therapy for the Polyglutamine Disease Machado–Joseph Disease

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

Ataxin-3 protein modification as a treatment strategy for spinocerebellar ataxia type 3: Removal of the CAG containing exon

(2013) Melvin M. Evers et al.   NEUROBIOLOGY OF DISEASE

Silencing Mutant Ataxin-3 Rescues Motor Deficits and Neuropathology in Machado-Joseph Disease Transgenic Mice

(2013) Clévio Nóbrega et al.   PLoS One

New Subtype of Spinocerebellar Ataxia With Altered Vertical Eye Movements Mapping to Chromosome 1p32

(2013) Carmen Serrano-Munuera et al.   JAMA Neurology

Hereditary Ataxia and Spastic Paraplegia in Portugal

(2013) Paula Coutinho et al.   JAMA Neurology

Pacific biosciences sequencing technology for genotyping and variation discovery in human data

(2012) Mauricio O Carneiro et al.   BMC GENOMICS

Mutations in DNMT1 cause autosomal dominant cerebellar ataxia, deafness and narcolepsy

(2012) Juliane Winkelmann et al.   HUMAN MOLECULAR GENETICS

The frequency of spinocerebellar ataxia type 23 in a UK population

(2012) Katherine Fawcett et al.   JOURNAL OF NEUROLOGY

Adult-onset spinocerebellar ataxia syndromes due toMTATP6mutations

(2012) Gerald Pfeffer et al.   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

Expansion of Intronic GGCCTG Hexanucleotide Repeat in NOP56 Causes SCA36, a Type of Spinocerebellar Ataxia Accompanied by Motor Neuron Involvement

(2011) Hatasu Kobayashi et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Clinical analysis of the treatment of spinocerebellar ataxia and multiple system atrophy-cerebellar type with umbilical cord mesenchymal stromal cells

(2011) Han Dongmei et al.   CYTOTHERAPY

Cellular toxicity of expanded RNA repeats: focus on RNA foci

(2011) Marzena Wojciechowska et al.   HUMAN MOLECULAR GENETICS

Spinocerebellar ataxia type 15: diagnostic assessment, frequency, and phenotypic features

(2011) M. Synofzik et al.   JOURNAL OF MEDICAL GENETICS

Transgenic mice with SCA10 pentanucleotide repeats show motor phenotype and susceptibility to seizure: A toxic RNA gain-of-function model

(2011) Misti White et al.   JOURNAL OF NEUROSCIENCE RESEARCH

Cellular fusion for gene delivery to SCA1 affected Purkinje neurons

(2011) K. Amy Chen et al.   MOLECULAR AND CELLULAR NEUROSCIENCE

Mutations in DNMT1 cause hereditary sensory neuropathy with dementia and hearing loss

(2011) Christopher J Klein et al.   NATURE GENETICS

Autophagy and polyglutamine diseases

(2011) Maria Jimenez-Sanchez et al.   PROGRESS IN NEUROBIOLOGY

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

(2010) Jun Ling Wang et al.   BRAIN

Mechanisms of trinucleotide repeat instability during human development

(2010) Cynthia T. McMurray   NATURE REVIEWS GENETICS

Autophagy induction reduces mutant ataxin-3 levels and toxicity in a mouse model of spinocerebellar ataxia type 3

(2009) Fiona M. Menzies et al.   BRAIN

Cellular and Molecular Pathways Triggering Neurodegeneration in the Spinocerebellar Ataxias

(2009) Antoni Matilla-Dueñas et al.   CEREBELLUM

Grafting Neural Precursor Cells Promotes Functional Recovery in an SCA1 Mouse Model

(2009) S. Chintawar et al.   JOURNAL OF NEUROSCIENCE

Continuous base identification for single-molecule nanopore DNA sequencing

(2009) James Clarke et al.   Nature Nanotechnology

Design of RNAi Hairpins for Mutation-Specific Silencing of Ataxin-7 and Correction of a SCA7 Phenotype

(2009) Janine Scholefield et al.   PLoS One

RNA Gain-of-Function in Spinocerebellar Ataxia Type 8

(2009) Randy S. Daughters et al.   PLoS Genetics

A new dominantly inherited pure cerebellar ataxia, SCA 30

(2008) E Storey et al.   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY