The differential diagnosis of chorea [PDF]
, 2007 Chorea is a hyperkinetic movement disorder characterised by excessive spontaneous movements that are irregularly timed, randomly distributed and abrupt. In this article, the authors discuss the causes of chorea, particularly Huntington's disease and the ...
Tabrizi, SJ, Wild, EJ
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Large-scale contractions of Friedreich’s ataxia GAA repeats in yeast occur during DNA replication due to their triplex-forming ability [PDF]
, 2020 Alexandra N. Khristich +4 more
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Ataxia-telangiectasia: case series review from Centro Hospitalar Universitário do Santo António [PDF]
, 2023 Carlota Gomes de Almeida, Laura Marques
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Autosomal Recessive Spastic Ataxia of Charlevoix‐Saguenay in Two Half‐Siblings
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Autosomal recessive spastic ataxia of Charlevoix‐Saguenay (ARSACS) is caused by biallelic pathogenic variants in the SACS gene. We report the clinical, radiologic and neurophysiologic features of a pair of half‐siblings who presented with progressive cerebellar ataxia, peripheral neuropathy and upper motor neuron signs.
Dennis Yeow +6 more
wiley +1 more source
Changes in Purkinje cell firing and gene expression precede behavioral pathology in a mouse model of SCA2. [PDF]
, 2012 Spinocerebellar ataxia type 2 (SCA2) is an autosomal dominantly inherited disorder, which is caused by a pathological expansion of a polyglutamine (polyQ) tract in the coding region of the ATXN2 gene.
Hansen, Stephen T +3 more
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Diagnosis and Management of Opsoclonus-Myoclonus-Ataxia Syndrome in Children [PDF]
, 2022 Thomas Rossor +16 more
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Insights Into the Antigenic Repertoire of Unclassified Synaptic Antibodies
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective We sought to characterize the sixth most common finding in our neuroimmunological laboratory practice (tissue assay‐observed unclassified neural antibodies [UNAs]), combining protein microarray and phage immunoprecipitation sequencing (PhIP‐Seq). Methods Patient specimens (258; 133 serums; 125 CSF) meeting UNA criteria were profiled;
Michael Gilligan +22 more
wiley +1 more source
Human Frataxin Folds Via an Intermediate State. Role of the C-Terminal Region [PDF]
, 2016 The aim of this study is to investigate the folding reaction of human frataxin, whose deficiency causes the neurodegenerative disease Friedreich’s Ataxia (FRDA).
Faraj, Santiago Enrique +3 more
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Domain Specific Placebo Response in the Modified Friedreich's Ataxia Rating Scale
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT The placebo response in clinical trials in ataxias complicates outcome interpretation and potentially obscures genuine treatment effects. We analyzed placebo group data from past trials in Friedreich Ataxia and observed notable responses in appendicular items, in contrast to minimal changes in axial function, as measured by respective ...
Christian Rummey +2 more
wiley +1 more source
Human GenomicsBackground To investigate the genetics of early-onset progressive cerebellar ataxia in Iran, we conducted a study at the Children’s Medical Center (CMC), the primary referral center for pediatric disorders in the country, over a three-year period from ...
Nejat Mahdieh +29 more
doaj +1 more source