Spinocerebellar ataxia

T Klockgether, C Mariotti, HL Paulson - Nature reviews Disease primers, 2019 - nature.com
The spinocerebellar ataxias (SCAs) are a genetically heterogeneous group of autosomal
dominantly inherited progressive disorders, the clinical hallmark of which is loss of balance …

Polyglutamine spinocerebellar ataxias—from genes to potential treatments

HL Paulson, VG Shakkottai, HB Clark… - Nature Reviews …, 2017 - nature.com
The dominantly inherited spinocerebellar ataxias (SCAs) are a large and diverse group of
neurodegenerative diseases. The most prevalent SCAs (SCA1, SCA2, SCA3, SCA6 and …

Systems biology and gene networks in neurodevelopmental and neurodegenerative disorders

NN Parikshak, MJ Gandal, DH Geschwind - Nature Reviews Genetics, 2015 - nature.com
Genetic and genomic approaches have implicated hundreds of genetic loci in
neurodevelopmental disorders and neurodegeneration, but mechanistic understanding …

Selective neuronal vulnerability in neurodegenerative diseases: from stressor thresholds to degeneration

S Saxena, P Caroni - Neuron, 2011 - cell.com
Neurodegenerative diseases selectively target subpopulations of neurons, leading to the
progressive failure of defined brain systems, but the basis of such selective neuronal …

Repeat expansion disease: progress and puzzles in disease pathogenesis

AR La Spada, JP Taylor - Nature Reviews Genetics, 2010 - nature.com
Repeat expansion mutations cause at least 22 inherited neurological diseases. The
complexity of repeat disease genetics and pathobiology has revealed unexpected shared …

Is SOD1 loss of function involved in amyotrophic lateral sclerosis?

RA Saccon, RKA Bunton-Stasyshyn, EMC Fisher… - Brain, 2013 - academic.oup.com
Mutations in the gene superoxide dismutase 1 (SOD1) are causative for familial forms of the
neurodegenerative disease amyotrophic lateral sclerosis. When the first SOD1 mutations …

Clinical features, neurogenetics and neuropathology of the polyglutamine spinocerebellar ataxias type 1, 2, 3, 6 and 7

U Rüb, L Schöls, H Paulson, G Auburger… - Progress in …, 2013 - Elsevier
The spinocerebellar ataxias type 1 (SCA1), 2 (SCA2), 3 (SCA3), 6 (SCA6) and 7 (SCA7) are
genetically defined autosomal dominantly inherited progressive cerebellar ataxias (ADCAs) …

Gain and loss of function of ALS-related mutations of TARDBP (TDP-43) cause motor deficits in vivo

E Kabashi, L Lin, ML Tradewell, PA Dion… - Human molecular …, 2010 - academic.oup.com
TDP-43 has been found in inclusion bodies of multiple neurological disorders, including
amyotrophic lateral sclerosis, frontotemporal dementia, Parkinson's disease and Alzheimer's …

Network organization of the huntingtin proteomic interactome in mammalian brain

DI Shirasaki, ER Greiner, I Al-Ramahi, M Gray… - Neuron, 2012 - cell.com
We used affinity-purification mass spectrometry to identify 747 candidate proteins that are
complexed with Huntingtin (Htt) in distinct brain regions and ages in Huntington's disease …

Toward understanding Machado–Joseph disease

M do Carmo Costa, HL Paulson - Progress in neurobiology, 2012 - Elsevier
Machado–Joseph disease (MJD), also known as spinocerebellar ataxia type 3 (SCA3), is
the most common inherited spinocerebellar ataxia and one of many polyglutamine …