Preferred Label : Spinocerebellar ataxia 21;
Symbol : SCA21;
CISMeF acronym : SCA21;
Type : Phenotype, molecular basis known;
Description : For a general discussion of autosomal dominant spinocerebellar ataxia (SCA1), see
164400. Devos et al. (2001) reported a 4-generation French family segregating an autosomal
dominant form of spinocerebellar ataxia. Eleven affected members showed variable symptoms
of cerebellar ataxia, limb ataxia and akinesia, dysarthria, dysgraphia, hyporeflexia,
postural tremor, rigidity, resting tremor, cognitive impairment, and cerebellar atrophy.
Eye movements were generally normal, with 1 case of microsaccadic pursuit and square
wave jerks. Age of onset ranged from 6 to 30 years, and 10 informative parent-child
pairs suggested genetic anticipation. By mutation or linkage analysis, Devos et al.
(2001) excluded known causative genes and loci for SCA. Using genomewide linkage analysis,
Vuillaume et al. (2002) mapped the locus for the disorder in this family to a 24-cM
region flanked by markers D7S2464 and D7S516 on chromosome 7p21.3-p15.1. *FIELD* RF
1. Devos, D.; Schraen-Maschke, S.; Vuillaume, I.; Dujardin, K.; Naze, P.; Willoteaux,
C.; Destee, A.; Sablonniere, B.: Clinical features and genetic analysis of a new form
of spinocerebellar ataxia. Neurology 56: 234-238, 2001. 2. Vuillaume, I.; Devos, D.;
Schraen-Maschke, S.; Dina, C.; Lemainque, A.; Vasseur, F.; Bocquillon, G.; Devos,
P.; Kocinski, C.; Marzys, C.; Destee, A.; Sablonniere, B.: A new locus for spinocerebellar
ataxia (SCA21) maps to chromosome 7p21.3-p15.1. Ann. Neurol. 52: 666-670, 2002. *FIELD*
CS Autosomal dominant;
Inheritance : Autosomal dominant;
Molecular basis : Caused by mutation in the transmembrane protein 240 gene (TMEM240, 616101.0001);
Prefixed ID : #607454;
Origin ID : 607454;
UMLS CUI : C1843891;
Broader ORDO disease(s)
- Currated CISMeF NLP mapping
- DO Cross reference
- Genes related to phenotype
- HPO term(s)
- ORDO concept(s)
- Semantic type(s)
- UMLS correspondences (same concept)
