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Article

Mutations in phospholipase DDHD2 cause autosomal recessive hereditary spastic paraplegia (SPG54).

European journal of human genetics : EJHG - 1 Nov 2013

Gonzalez Michael, Nampoothiri Sheela, Kornblum Cornelia, Oteyza Andrés Caballero, Walter Jochen, Konidari Ioanna, Hulme William, Speziani Fiorella, Schöls Ludger, Züchner Stephan, Schüle Rebecca

Abstract excerpt

Hereditary spastic paraplegias (HSP) are a genetically heterogeneous group of disorders characterized by a distal axonopathy of the corticospinal tract motor neurons leading to progressive lower limb spasticity and weakness. Intracellular membrane trafficking, mitochondrial dysfunction and myelin formation are key functions involved in HSP pathogenesis. Only recently defects in metabolism of complex lipids have...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 23486545
DOI: 10.1038/ejhg.2013.29
PMCID: PMC3798837

Genes

DDHD2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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Mutations in phospholipase DDHD2 cause autosomal recessive hereditary spastic paraplegia (SPG54).PMID 23486545Read ↗

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