Cerebellar and thalamic degeneration in spinocerebellar ataxia type 10Spinocerebellar ataxiasSpinocerebellar ataxia type 10NeuroimagingCerebellumThalamusdoi:10.1016/j.parkreldis.2020.03.007Walter Oleschko ArrudaAlex Tiburtino MeiraSergio Eiji OnoArnolfo de Carvalho Neto...
Spinocerebellar ataxia type 7 (SCA7) is unique among CAG/polyglutamine (polyQ) repeat diseases due to dramatic intergenerational instability in repeat leng... GA Garden,ARL Spada - 《Cerebellum》 被引量: 136发表: 2008年 Gcn5 loss-of-function accelerates cerebellar and retinal degeneration in a ...
CentreDelCentreMarCentreAmadorCentreAmyotrophic Lateral Sclerosis and Frontotemporal DegenerationCorcia P. , Vourc'h P. , Guennoc A. M. , Del Mar Amador M. , Blasco H. , Andres C. , Couratier P. , Gordon P. H. and Meininger V. ( 2015 ) Pure cerebellar ataxia linked to large C9orf...
Objective: To report two patients with sporadic, adult-onset ataxia with a rapidly progressive disease course and extra-cerebellar symptoms resembling prion disease.Background: Sporadic, adult-onset cerebellar ataxia is a disease with multiple etiologies. Cortical cerebellar atrophy (CCA), idiopathic ...
Our results demonstrate that each of the three studied SCA subtypes has a unique cerebellar degeneration signature, hinting at differences in the disease process. Clinically, these differentiable patterns of cerebellar degeneration can be used to reliably discern subtypes, even at relatively early stages...
Localization of autosomal dominant cerebellar ataxia associated with retinal degeneration and anticipation to chromosome 3p12-p21.1. Localization of autosomal dominant cerebellar ataxia associated with retinal degeneration and anticipation to chromosome 3p12-p21.1. Hum Mol Genet 1995;4:1441... Holmberg,...
Ataxia telangiectasia (AT) is a chromosome instability (CIN) neurological syndrome arising from DNA damage response defects due to ATM gene mutations. The hallmark of AT is progressive cerebellar degeneration. However, the intrinsic cause of the neurodegeneration remains poorly understood. To highlight ...
Disruption of PS flippases led to several human diseases. However, the roles ofin the central nervous system remain elusive. To investigate the role ofin the cerebellum, we developed aPurkinje cell (PC)-specific knockout (KO) mouse model. TheKO mice displayed early-onset ataxia and ...
Progressive cerebellar atrophy: hereditary ataxias and disorders with spinocerebellar degeneration. Handb Clin Neurol. 2013;113:1869-78.Wolf NI, Koenig M. 2013. Progressive cerebellar atrophy: hereditary ataxias and disorders with spinocerebellar degeneration. Handb Clin Neurol 113:1869-78....
To determine if expression of the Nna1-WT1 BAC was sufficient to rescue this dramatic Purkinje cell degeneration, we obtained cerebellar sections from 4-month-old littermate pcd5J homozygous mice that were either positive or negative for the Nna1-WT1 transgene. Calbindin immunostaining revealed a ...