Japanese Families with Autosomal Dominant Pure Cerebellar Ataxia Map to Chromosome 19p13.1-p13.2 and Are Strongly Associated with Mild CAG Expansions in the Spinocerebellar Ataxia Type 6 Gene in Chromosome 19p13.1

1997/08/01 by Kinya Ishikawa, K. Ishikawa, Hajime Tanaka +32 · 122 citations
Biochemistry, Genetics and Molecular Biology · Neuroscience · #Allele #Anticipation (artificial intelligence) #Ataxia #Biology #Cerebellar ataxia #Chromosome #Gene #Genetic Neurodegenerative Diseases #Genetic linkage #Genetics #Mitochondrial Function and Pathology #Neuroscience #Spinocerebellar ataxia #Trinucleotide repeat expansion #Ubiquitin and proteasome pathways

paper · pdf · doi:10.1086/514867

published in The American Journal of Human Genetics 61(2), 336-346 (Elsevier BV)

crossref issued 1997/08/01 · crossref published 1997/08/01 · crossref published-print 1997/08/01 · openalex publication_date 1997/08/01 · crossref created 2007/12/04 · crossref deposited 2025/09/11 · openalex created_date 2025/10/10 · crossref indexed 2026/05/13 · openalex updated_date 2026/08/04

Citations

• Familial Hemiplegic Migraine and Episodic Ataxia Type-2 Are Caused by Mutations in the Ca2+ Channel Gene CACNL1A4
• Autosomal dominant cerebellar ataxia (SCA6) associated with small polyglutamine expansions in the α1A-voltage-dependent calcium channel
• Chromosomal Localization of the Human Genes for α1A, α1B, and α1E Voltage-Dependent Ca2+ Channel Subunits
• A novel gene containing a trinucleotide repeat that is expanded and unstable on Huntington's disease chromosomes

Cited by

• Cav2.1 [wikipedia]