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General Information
Name
spastic paraplegia 30
FlyBase ID
FBhh0000878
Disease Ontology Term
Parent Disease
Overview

This report describes spastic paraplegia 30 (SPG30), which is a subtype of spastic paraplegia; this disease exhibits autosomal recessive inheritance. The human gene implicated in this disease is the kinesin gene KIF1A, which encodes an anterograde motor protein that transports membranous organelles and synaptic vesicle precursors along axonal microtubules. See the report for 'synaptic dysfunction, KIF1-related' (FBhh0000875) for information on experimental results using Drosophila models of this and related diseases.

[updated Aug. 2018 by FlyBase; FBrf0222196]

Disease Summary Information
Parent Disease Summary: spastic paraplegia
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]

Specific Disease Summary: spastic paraplegia 30
OMIM report

[SPASTIC PARAPLEGIA 30, AUTOSOMAL DOMINANT; SPG30](https://omim.org/entry/610357)

Human gene(s) implicated

[KINESIN FAMILY MEMBER 1A; KIF1A](https://omim.org/entry/601255)

Symptoms and phenotype

SPG30 is an autosomal recessive form of slowly progressive spastic paraplegia characterized by onset in the first or second decades of unsteady spastic gait and hyperreflexia of the lower limbs. Mildly impaired sensation and cerebellar involvement has been reported in 1 putatively affected family (summary by Erlich et al., 2011; pubmed:21487076). [from OMIM:610357; 2018.08.21]

Genetics

Spastic paraplegia-30 (SPG30) can be caused by homozygous mutation in the KIF1A gene. [from OMIM:610357; 2018.08.21]

Cellular phenotype and pathology
Molecular information

KIF1A encodes a member of the kinesin family; it functions as an anterograde motor protein that transports membranous organelles and synaptic vesicle precursors along axonal microtubules. [Gene Cards, KIF1A; 2018.08.22]

External links
Disease synonyms
spastic paraplegia 30, autosomal recessive
SPG30
Ortholog Information
Human gene(s) in FlyBase
    Human gene (HGNC)
    D. melanogaster ortholog (based on DIOPT)
    Comments on ortholog(s)
    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
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        Contact lab of origin for a reagent not available from a public stock center.
        Bloomington Stock Center Disease Page
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        Publicly Available Stocks
        Selected Drosophila transgenes
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        RNAi constructs available
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        Selected Drosophila classical alleles
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        Publicly Available Stocks
        References (3)