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General Information
Name
spastic paraplegia
FlyBase ID
FBhh0000032
Disease Ontology Term
Parent Disease
OMIM
Overview

This report describes general characteristics of the group of diseases classified as spastic paraplegia (SPG) or hereditary spastic paraplegia (HSP). Spastic paraplegia is a genetically heterogeneous disorder with many causative genes and mapped loci. A comprehensive list of SPG subtypes, as defined by OMIM (which number over 70 to date), can be found by following the link in the "OMIM phenotypic series" section, below. A subset of these may be found in the table below, with links to more detailed reports for subtypes that have been investigated using fly models.

[updated Mar. 2020 by FlyBase; FBrf0222196]

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

The hereditary spastic paraplegias (SPG, HSP) are a large group of clinically and genetically diverse disorders characterized by progressive, usually severe, lower extremity spasticity and weakness. SPG is classified by mode of inheritance (autosomal dominant, autosomal recessive, and X-linked) and whether the primary symptoms occur in isolation ('uncomplicated SPG') or with other neurologic abnormalities ('complicated SPG'). [from OMIM:182600; 15.06.29]

Genetics

Autosomal dominant, autosomal recessive, and X-linked forms occur. [from OMIM:182600; 15.06.29]

Cellular phenotype and pathology

The major neuropathologic feature of autosomal dominant, uncomplicated SPG is axonal degeneration that is maximal in the terminal portions of the longest descending and ascending tracts (corticospinal tracts to the legs and fasciculus gracilis, respectively). [from OMIM:182600; 15.06.29]

Molecular information
External links
Disease synonyms
hereditary spastic paraplegia
HSP
SPG
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
        Selected mammalian transgenes
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        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 (10)