Results 141 to 150 of about 2,429 (159)

Spinocerebellar ataxia type 6 (SCA6): Clinical pilot trial with gabapentin [PDF]

Journal of the Neurological Sciences, 2009
The clinical effect of the GABAergic drug gabapentin was evaluated in 11 patients with spinocerebellar ataxia type 6 (SCA6). The total period of gabapentin treatment was 4 weeks, and outcome measures were determined with the International Cooperative ...
Katsuya Nakamura
exaly   +3 more sources

Haplotype study in Dutch SCA3 and SCA6 families: evidence for common founder mutations

European Journal of Human Genetics, 2004
This pilot study was initiated to show the existence of founder effects in the Dutch autosomal dominant cerebellar ataxia (ADCA) population. The ADCAs comprise a clinically heterogeneous group of neurodegenerative disorders and the estimated prevalence ...
Dineke Verbeek
exaly   +2 more sources

Pathogenic expansions of the SCA6 locus are associated with a common CACNA1A haplotype across the globe: founder effect or predisposing chromosome?

European Journal of Human Genetics, 2008
Spinocerebellar ataxia type 6 (SCA6) is a common cause of dominantly inherited ataxia due to an expansion of the CAG repeat in the CACNA1A gene. Affected individuals from the same population share a common haplotype, raising the possibility that most ...
Laura Bannach Jardim, Hirofumi Maruyama, Hideshi Kawakami   +2 more
exaly   +2 more sources

Second Cistron in CACNA1A Gene Encodes a Transcription Factor Mediating Cerebellar Development and SCA6 [PDF]

Cell, 2013
SummaryThe CACNA1A gene, encoding the voltage-gated calcium channel subunit α1A, is involved in pre- and postsynaptic Ca2+ signaling, gene expression, and several genetic neurological disorders.
Christian Hansel, Kay-Marie Lamar, Christopher Gomez   +2 more
exaly   +2 more sources

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Meiotic instability of the CAG repeats in the SCA6/CACNA1A gene in two Japanese SCA6 families

Journal of the Neurological Sciences, 2001
Yoshihisa Takiyama, Haruo Shimazaki, K Sakoe   +2 more
exaly  

Episodic ataxia and SCA6 within the same family due to the D302N CACNA1A gene mutation

Journal of the Neurological Sciences, 2016
Alessandro Mauro, Luca Guglielmo Pradotto, Matteo Bigoni   +2 more
exaly  

Neuropathological and molecular studies of spinocerebellar ataxia type 6 (SCA6)

Acta Neuropathologica, 1998
Ichiro Yabe, Hidenao Sasaki, Hirofumi Sawa   +2 more
exaly  

SCA6 mutation analysis in a large cohort of the Japanese patients with late-onset pure cerebellar ataxia

Journal of the Neurological Sciences, 1998
Ichiro Yabe, Hidenao Sasaki, Tohru Matsuura   +2 more
exaly  

A Japanese family with spinocerebellar ataxia type 6 which includes three individuals homozygous for an expanded CAG repeat in the SCA6/CACNL1A4 gene

Journal of the Neurological Sciences, 1998
Hiroaki Yokote, Yoshihisa Takiyama, K Sakoe   +2 more
exaly  

Reduced brain‐derived neurotrophic factor (BDNF) mRNA expression and presence of BDNF‐immunoreactive granules in the spinocerebellar ataxia type 6 (SCA6) cerebellum

Neuropathology, 2012
Yoshinobu Eishi, Makoto Takahashi, Nozomu Sato   +2 more
exaly