FB2026_01 , released March 12, 2026
FB2026_01 , released March 12, 2026
Human Disease Model Report: spinocerebellar ataxia, autosomal recessive
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General Information
Name
spinocerebellar ataxia, autosomal recessive
FlyBase ID
FBhh0000118
Disease Ontology Term
Parent Disease
OMIM
Overview

This report describes general characteristics of the group of diseases classified as spinocerebellar ataxia, autosomal recessive (SCAR) or autosomal recessive cerebellar ataxia (ARCA). SCAR is a genetically heterogeneous disorder, with multiple genes and mapped loci. A listing of SCAR subtypes can be found in the table below, with links to more detailed reports for subtypes that have been investigated using fly models.

Dominant subtypes are described simply as 'spinocerebellar ataxia' (SCA); for dominant forms that have been investigated in flies, see the report for 'spinocerebellar ataxia, autosomal dominant' (FBhh0000060).

[updated Jul. 2020 by FlyBase; FBrf0222196]

Disease Summary Information
Parent Disease Summary: spinocerebellar ataxia, autosomal recessive
OMIM report
Symptoms and phenotype

Autosomal recessive cerebellar ataxias (ARCA) are a heterogeneous group of rare neurological disorders involving both central and peripheral nervous system, and in some case other systems and organs, and characterized by degeneration or abnormal development of cerebellum and spinal cord, autosomal recessive inheritance and, in most cases, early onset occurring before the age of 20 years (Palau and Espinos, 2006; pubmed:17112370).

(FlyBase Curators, 2013-)

The hereditary ataxias are a group of genetic disorders characterized by slowly progressive incoordination of gait and often associated with poor coordination of hands, speech, and eye movements. Frequently, atrophy of the cerebellum occurs. [from Gene Reviews, Hereditary Ataxia Overview; pubmed:20301317; 2017.06.16]

(FlyBase Curators, 2013-)

See also Jayadev and Bird, 2013 (pubmed:23538602).

(FlyBase Curators, 2013-)

Autosomal recessive spinocerebellar ataxia is a neurologic disorder characterized by onset of progressive gait difficulties, eye movement abnormalities, and dysarthria in the first or second decade of life (summary, Dy et al, 2105; pubmed:26224725). [from MIM:609270; 2020.07.13]

(OMIM, 2013-)
Genetics
Cellular phenotype and pathology
Molecular information
External links
Disease synonyms
ARCA
autosomal recessive cerebellar ataxia
congenital ataxia
hereditary ataxia
SCAR
spinocerebellar ataxia, autosomal recessive
Ortholog Information
Human gene(s) in FlyBase
    Other mammalian ortholog(s) used
      D. melanogaster Gene Information (0)
      Other Genes Used: Viral, Bacterial, Synthetic (0)
        Summary of Physical Interactions (0 groups)
        Alleles Reported to Model Human Disease (Disease Ontology) (0 alleles)
        Alleles Representing Disease-Implicated Variants
        Genetic Tools, Stocks and Reagents
        Sources of Stocks
        Contact lab of origin for a reagent not available from a public stock center.
        Bloomington Stock Center Disease Page
        Related mammalian, viral, bacterial, or synthetic transgenes
        Allele
        Transgene
        Publicly Available Stocks
        Selected Drosophila transgenes
        Allele
        Transgene
        Publicly Available Stocks
        RNAi constructs available
        Allele
        Transgene
        Publicly Available Stocks
        Selected Drosophila classical alleles
        Allele
        Allele class
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        Publicly Available Stocks
        References (3)