FB2026_02 , released June 18, 2026
Human Disease Model Report: spinocerebellar ataxia, autosomal recessive, with axonal neuropathy
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General Information
Name
spinocerebellar ataxia, autosomal recessive, with axonal neuropathy
FlyBase ID
FBhh0001220
Disease Ontology Term
Parent Disease
OMIM
Overview

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

[updated Jul. 2020 by FlyBase; FBrf0222196]

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

Spinocerebellar ataxia with axonal neuropathy is an autosomal recessive neuromuscular disorder typically characterized by onset in the first or second decade of gait disturbance, slowly progressive distal muscle weakness, and axonal sensorimotor neuropathy with distal sensory impairment. [from MIM:218387, MIM:607250; 2020.07.14]

Genetics
Cellular phenotype and pathology
Molecular information
External links
    Disease synonyms
    SCAN
    spinocerebellar ataxia with axonal neuropathy
    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)