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General Information
Name
spastic paraplegia 39
FlyBase ID
FBhh0000367
Disease Ontology Term
Parent Disease
Overview

This report describes spastic paraplegia 39 (SPG39), which is a subtype of spastic paraplegia. Familial SPG39 is inherited as an autosomal recessive. SPG39 is one of several neurological disorders caused by mutations in PNPLA6, which encodes a transmembrane protein that deacetylates intracellular phosphatidylcholine. See the report for neurodegenerative disease, PNPLA6-related (FBhh0000368) for information on experimental results using Drosophila models of this and related diseases.

[updated Aug. 2016 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 39
OMIM report

[SPASTIC PARAPLEGIA 39, AUTOSOMAL RECESSIVE; SPG39](https://omim.org/entry/612020)

Human gene(s) implicated

[PATATIN-LIKE PHOSPHOLIPASE DOMAIN-CONTAINING PROTEIN 6; PNPLA6](https://omim.org/entry/603197)

Symptoms and phenotype

Spastic paraplegia 39 (SPG39) is associated with progressive distal upper and lower extremity wasting and spasticity; clinically variable in severity and with regard to other symptoms. In a study of several affected familiies, electrophysiologic studies were consistent with a motor axonopathy affecting upper and lower limbs. [from OMIM:612020; 2016.08.15]

Genetics

Spastic paraplegia 39 (SPG39) is caused by homozygous or compound heterozygous mutation in the PNPLA6 gene. [from OMIM:612020; 2016.08.15]

Cellular phenotype and pathology
Molecular information

PNPLA6 encodes a phospholipase that deacetylates intracellular phosphatidylcholine to produce glycerophosphocholine. This protein is the target for neurodegeneration induced by certain organophosphorus compounds and chemical warfare agents. [Gene cards, PNPLA6; 2016.08.16]

Mutations in the catalytic domain of PNPLA6 are associated with spastic paraplegia (SPG39). [references cited in Kmoch, et al., 2015; FBrf0227268]

External links
Disease synonyms
NTEMND
NTE-related motor neuron disorder
spastic paraplegia 39, autosomal recessive
SPG39
Ortholog Information
Human gene(s) in FlyBase
    Human gene (HGNC)
    D. melanogaster ortholog (based on DIOPT)
    Comments on ortholog(s)

    Many to one (2 human to 1 Drosophila); the second orthologous gene in human is PNPLA7.

    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
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        RNAi constructs available
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        Selected Drosophila classical alleles
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        Publicly Available Stocks
        References (4)