FB2026_01 , released March 12, 2026
FB2026_01 , released March 12, 2026
Human Disease Model Report: spastic paraplegia 39
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General Information
Name
spastic paraplegia 39
FlyBase ID
FBhh0000367
Disease Ontology Term
Parent Disease
OMIM
SPASTIC PARAPLEGIA 39, AUTOSOMAL RECESSIVE; SPG39
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 MIM:182600; 15.06.29]

(OMIM, 2013-)
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 MIM:612020; 2016.08.15]

(OMIM, 2013-)
Genetics

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

(OMIM, 2013-)
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]

(FlyBase Curators, 2013-)

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

(FlyBase Curators, 2013-)
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)
    Symbol / Name
    PNPLA6; patatin like domain 6, lysophospholipase
    D. melanogaster ortholog (based on DIOPT)
    Dmel\sws
    (DIOPT, 2013-)
    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
        Related mammalian, viral, bacterial, or synthetic transgenes
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        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 (5)