FB2026_02 , released June 18, 2026
FB2026_02 , released June 18, 2026
Human Disease Model Report: spinocerebellar ataxia, autosomal dominant
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General Information
Name
spinocerebellar ataxia, autosomal dominant
FlyBase ID
FBhh0000060
Disease Ontology Term
Parent Disease
OMIM
Overview

This report describes general characteristics of the group of diseases classified as spinocerebellar ataxia (SCA). Spinocerebellar ataxia is a genetically heterogeneous disorder, with multiple genes and mapped loci; these diseases exhibit autosomal dominant inheritance. A listing of SCA subtypes may be found in the table below, with links to more detailed reports for subtypes that have been investigated using fly models. For recessive forms that have been investigated in flies, see the report for 'spinocerebellar ataxia, autosomal recessive' (FBhh0000118).

[updated Apr. 2018 by FlyBase; FBrf0222196]

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

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, pubmed:14628900). 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 pubmed:15099544; Taroni and DiDonato, 2004, pubmed:15263894). [From MIM:164400, 2015.10.27]

(OMIM, 2013-)

The autosomal dominant cerebellar degenerative disorders are generally referred to as 'spinocerebellar ataxias' (SCAs). Neuropathologists have defined SCAs as cerebellar ataxias with variable involvement of the brainstem and spinal cord; 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 pubmed:15099544; Taroni and DiDonato, 2004, pubmed:15263894). [From MIM:164400, 2015.10.27]

(FlyBase Curators, 2013-)
Genetics

SCA is a genetically heterogeneous disorder, with several causative genes and mapped loci. [From MIM:164400, 2015.10.27]

(OMIM, 2013-)
Cellular phenotype and pathology
Molecular information
External links
Disease synonyms
autosomal dominant cerebellar ataxia
SCA
spinocerebellar ataxia
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
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        Publicly Available Stocks
        Selected Drosophila transgenes
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        Publicly Available Stocks
        RNAi constructs available
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        Transgene
        Publicly Available Stocks
        Selected Drosophila classical alleles
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        Publicly Available Stocks
        References (7)