FB2026_03 , released September 17, 2026
Human Disease Model Report: spastic ataxia
Open Close
General Information
Name
spastic ataxia
FlyBase ID
FBhh0001302
Disease Ontology Term
Parent Disease
OMIM
Overview

This report describes general characteristics of the group of diseases classified as spastic ataxia (SPAX). Spastic ataxia is a genetically heterogeneous disorder, with multiple genes and mapped loci. A listing of SPAX subtypes can be found in the table below, with links to more detailed reports for subtypes that have been investigated using fly models. A comprehensive list of SPAX subtypes, as defined by OMIM, can be found by following the link in the "OMIM phenotypic series" section, below.

[updated Jan. 2021 by FlyBase; FBrf0222196]

Disease Summary Information
Parent Disease Summary: spastic ataxia
OMIM report
Symptoms and phenotype

Hereditary spastic ataxia comprises a heterogeneous group of progressive neurodegenerative disorders characterized by lower-limb spasticity and generalized ataxia with dysarthria, impaired ocular movements, and gait disturbance. [from MIM:108600; 2021.01.11]

Genetics

There are both autosomal recessive and autosomal dominant forms of spastic ataxia. [from MIM:PS108600; 2021.01.11]

Cellular phenotype and pathology
Molecular information
External links
Disease synonyms
SPAX
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
        Mutagen
        Publicly Available Stocks
        References (2)