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Spinocerebellar ataxia, autosomal recessive 1 MeSH Supplementary Concept Data 2024


MeSH Supplementary
Spinocerebellar ataxia, autosomal recessive 1
Unique ID
C537308
RDF Unique Identifier
http://id.nlm.nih.gov/mesh/C537308
Entry Term(s)
Ataxia with Oculomotor Apraxia
Ataxia-ocular apraxia 2
Ataxia-oculomotor apraxia 2
SCAN2
SCAR1
Spinocerebellar Ataxia with Axonal Neuropathy Type 2
Spinocerebellar Ataxia, Recessive, Non-Friedreich Type 1
Registry Number
0
Previous Indexing
*SPINOCEREBELLAR DEGENERATIONS (2010-2015)
Heading Mapped to
Spinocerebellar Ataxias / *congenital
Frequency
32
Note
A hereditary autosomal recessive spinocerebellar ataxia characterized by juvenile onset of progressive cerebellar ataxia, axonal sensorimotor PERIPHERAL NEUROPATHIES, and increased serum ALPHA-FETOPROTEIN. Associated with mutations in the SETX gene. OMIM: 606002
Date of Entry
2010/08/25
Revision Date
2016/07/07
Spinocerebellar ataxia, autosomal recessive 1 Preferred
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