Preferred Label : Spinocerebellar ataxia 1;
Symbol : SCA1;
CISMeF acronym : SCA1;
Type : Phenotype, molecular basis known;
Alternative titles and symbols : Schut-haymaker type opca; Olivopontocerebellar atrophy I; Menzel type opca; Opca iv; CPD1; OPCA4; Cerebelloparenchymal disorder I; Olivopontocerebellar atrophy iv; Spinocerebellar atrophy I; OPCA1; Opca I;
Description : The autosomal dominant cerebellar degenerative disorders are generally referred to
as 'spinocerebellar ataxias,' (SCAs) even though 'spinocerebellar' is a hybrid term,
referring to both clinical signs and neuroanatomical regions (Margolis, 2003). Neuropathologists
have defined SCAs as cerebellar ataxias with variable involvement of the brainstem
and spinal cord, and the clinical features of the disorders are caused by degeneration
of the cerebellum and its afferent and efferent connections, which involve the brainstem
and spinal cord (Schols et al., 2004; Taroni and DiDonato, 2004). Historically, Harding
(1982) proposed a clinical classification for autosomal dominant cerebellar ataxias
(ADCAs). ADCA I was characterized by cerebellar ataxia in combination with various
associated neurologic features, such as ophthalmoplegia, pyramidal and extrapyramidal
signs, peripheral neuropathy, and dementia, among others. ADCA II was characterized
by the cerebellar ataxia, associated neurologic features, and the additional findings
of macular and retinal degeneration. ADCA III was a pure form of late-onset cerebellar
ataxia without additional features. SCA1, SCA2 (183090), and SCA3, or Machado-Joseph
disease (109150), are considered to be forms of ADCA I. These 3 disorders are characterized
at the molecular level by CAG repeat expansions on 6p24-p23, 12q24.1, and 14q32.1,
respectively. SCA7 (607640), caused by a CAG repeat expansion in the ATXN7 gene (607640)
on chromosome 3p13-p12, is a form of ADCA II. SCA5 (600224), SCA31 (117210), SCA6
(183086), and SCA11 (600432) are associated with phenotypes most suggestive of ADCA
III. However, Schelhaas et al. (2000) noted that there is significant phenotypic overlap
between different forms of SCA as well as significant phenotypic variability within
each subtype. Classic reviews of olivopontocerebellar atrophies and of inherited ataxias
in general include those of Konigsmark and Weiner (1970), who identified 5 types of
olivopontocerebellar atrophy, Berciano (1982), Harding (1993), Schelhaas et al. (2000),
and Margolis (2003).;
Inheritance : Autosomal dominant;
Molecular basis : Caused by expanded CAG trinucleotide repeats in the ataxin-1 gene (ATX1, 601556.0001);
Prefixed ID : #164400;
Origin ID : 164400;
UMLS CUI : C0752120;
Automatic exact mappings (from CISMeF team)
- Currated CISMeF NLP mapping
- DO Cross reference
- Genes related to phenotype
- HPO term(s)
- Matching ORDO disease(s)
- ORDO concept(s)
- See also inter- (CISMeF)
- Semantic type(s)
- UMLS correspondences (same concept)
- Validated automatic mappings to BTNT
