The SCA12 mutation as a rare cause of spinocerebellar ataxia

Archives of Neurology

Volumn 58, Issue 11, 2001, Pages 1833-1835

  Cholfin, Jeremy A ^a   Sobrido, María Jesús ^a   Perlman, Susan ^a   Pulst, Stefan M ^b   Geschwind, Daniel H ^a  

^a UNIVERSITY OF CALIFORNIA   (United States)

^b CEDARS SINAI MEDICAL CENTER   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ADULT; ALLELE; ARTICLE; CEREBELLUM DISEASE; CHROMOSOME 5; DEGENERATIVE DISEASE; DIAGNOSTIC TEST; DOMINANT INHERITANCE; GENE FREQUENCY; GENE MUTATION; GENETIC HETEROGENEITY; HETEROZYGOSITY; HUMAN; HUMAN CELL; MAJOR CLINICAL STUDY; PHENOTYPE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; SPINOCEREBELLAR DEGENERATION; TREMOR;

EID: 0034757817     PISSN: 00039942     EISSN: None     Source Type: Journal    
DOI: 10.1001/archneur.58.11.1833     Document Type: Article

References (10)

1. Autosomal dominant cerebellar ataxia of fate onset
2. Molecular genetics and inherited ataxias: Redefining phenotypes and pathogenesis
3. Expansion of a novel GAG trinucleotide repeat in the 5′ region of PPP2R2B is associated with SCA12
4. SCA-12: Tremor with cerebellar and cortical atrophy is associated with a CAG repeat expansion
5. The prevalence and wide clinical spectrum of the spinocerebellar ataxia type 2 trinucleotide repeat in patients with autosomal dominant cerebellar ataxia
6. SCA12 is a rare locus for autosomal dominant cerebellar ataxia: A study of an Indian family
7. Spinocerebellar ataxia type 12 is rare in the United Kingdom
8. Genetic background of apparently idiopathic sporadic cerebellar ataxia
9. Spinocerebellar ataxia type 12 (SCA12): Additional evidence for a causative role of the CAG repeat expansion in PPP2R2B
10. Autosomal dominant spinocerebellar ataxias ad infini turn?