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Frequency of the C9orf72 hexanucleotide repeat expansion in patients with amyotrophic lateral sclerosis and frontotemporal dementia: a cross-sectional study
Interference by Huntingtin and Atrophin-1 with CBP-Mediated Transcription Leading to Cellular Toxicity
It is found that CBP was depleted from its normal nuclear location and was present in polyglutamine aggregates in HD cell culture models, HD transgenic mice, and human HD postmortem brain, suggesting polyglUTamine-mediated interference with CBP-regulated gene transcription may constitute a genetic gain of function, underlying the pathogenesis of polyglutsamine disorders.
Multicenter analysis of glucocerebrosidase mutations in Parkinson's disease.
Data collected demonstrate that there is a strong association between GBA mutations and Parkinson's disease, and those with a GBA mutation presented earlier with the disease, were more likely to have affected relatives, and were morelikely to have atypical clinical manifestations.
SCA17, a novel autosomal dominant cerebellar ataxia caused by an expanded polyglutamine in TATA-binding protein.
A novel spinocerebellar ataxia (SCA) form in four Japanese pedigrees is identified which is caused by an abnormal CAG expansion in the TATA-binding protein (TBP) gene, a general transcription initiation factor, and it has been added to the group of polyglutamine diseases.
Unstable expansion of CAG repeat in hereditary dentatorubral–pallidoluysian atrophy (DRPLA)
It is proposed that the wide variety of clinical manifestations of DRPLA can now be explained by the variable unstable expansion of the CAG repeat.
Association of HTRA1 mutations and familial ischemic cerebral small-vessel disease.
The findings indicate a link between repressed inhibition of signaling by the TGF-beta family and ischemic cerebral small-vessel disease, alopecia, and spondylosis.
Charcot-Marie-Tooth disease type 2A caused by mutation in a microtubule motor KIF1Bbeta.
It is shown that CMT2A patients contain a loss-of-function mutation in the motor domain of the KIF1B gene, clear indication that defects in axonal transport due to a mutated motor protein can underlie human peripheral neuropathy.
A new locus for Parkinson's disease (PARK8) maps to chromosome 12p11.2–q13.1
- M. Funayama, K. Hasegawa, H. Kowa, M. Saito, S. Tsuji, F. Obata
- BiologyAnnals of Neurology
- 1 March 2002
Genomewide linkage analysis of a Japanese family with autosomal dominant parkinsonism, which exhibits clinical features compatible with those of common Parkinson's disease, yielded Zmax LOD scores of 14.2 and 24.9 at D12S345, respectively, strongly supporting the mapping of the parkinsonist locus in this family to 12p11.23–q13.11.
Charcot-Marie-Tooth Disease Type 2A Caused by Mutation in a Microtubule Motor KIF1Bβ
Close associations between prevalences of dominantly inherited spinocerebellar ataxias with CAG-repeat expansions and frequencies of large normal CAG alleles in Japanese and Caucasian populations.
The hypothesis that the frequencies of normal alleles (ANs) with a relatively large number of CAG repeats (large ANs) are related to the prevalences of the dominant spinocerebellar ataxias (SCAs) is tested and the assumption that large ANs contribute to generation of expanded allels (AEs) is supported.