{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"submitter":["Chen DH"],"funding":["NIEHS NIH HHS"],"pagination":["839-49"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC1180348"],"repository":["biostudies-literature"],"omics_type":["Unknown"],"volume":["72(4)"],"pubmed_abstract":["We report a nonepisodic autosomal dominant (AD) spinocerebellar ataxia (SCA) not caused by a nucleotide repeat expansion that is, to our knowledge, the first such SCA. The AD SCAs currently comprise a group of > or =16 genetically distinct neurodegenerative conditions, all characterized by progressive incoordination of gait and limbs and by speech and eye-movement disturbances. Six of the nine SCAs for which the genes are known result from CAG expansions that encode polyglutamine tracts. Noncoding CAG, CTG, and ATTCT expansions are responsible for three other SCAs. Approximately 30% of families with SCA do not have linkage to the known loci. We recently mapped the locus for an AD SCA in a family (AT08) to chromosome 19q13.4-qter. A particularly compelling candidate gene, PRKCG, encodes pro"],"journal":["American journal of human genetics"],"pubmed_title":["Missense mutations in the regulatory domain of PKC gamma: a new mechanism for dominant nonepisodic cerebellar ataxia."],"pmcid":["PMC1180348"],"funding_grant_id":["P30ES07033","P30 ES007033"],"pubmed_authors":["Fernandez M","Brkanac Z","Verlinde CL","Raskind WH","Bylenok L","Matsushita M","Bird TD","Chen DH","Cimino PJ","Nochlin D","Tan XJ","Lipe H","Wolff J"],"additional_accession":[]},"is_claimable":false,"name":"Missense mutations in the regulatory domain of PKC gamma: a new mechanism for dominant nonepisodic cerebellar ataxia.","description":"We report a nonepisodic autosomal dominant (AD) spinocerebellar ataxia (SCA) not caused by a nucleotide repeat expansion that is, to our knowledge, the first such SCA. The AD SCAs currently comprise a group of > or =16 genetically distinct neurodegenerative conditions, all characterized by progressive incoordination of gait and limbs and by speech and eye-movement disturbances. Six of the nine SCAs for which the genes are known result from CAG expansions that encode polyglutamine tracts. Noncoding CAG, CTG, and ATTCT expansions are responsible for three other SCAs. Approximately 30% of families with SCA do not have linkage to the known loci. We recently mapped the locus for an AD SCA in a family (AT08) to chromosome 19q13.4-qter. A particularly compelling candidate gene, PRKCG, encodes pro","dates":{"release":"2003-01-01T00:00:00Z","publication":"2003 Apr","modification":"2025-04-04T21:06:45.67Z","creation":"2019-03-27T01:09:09Z"},"accession":"S-EPMC1180348","cross_references":{"pubmed":["12644968"],"doi":["10.1086/373883"]}}