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Article

Truncating mutation in intracellular phospholipase A₁ gene (DDHD2) in hereditary spastic paraplegia with intellectual disability (SPG54).

BMC research notes - 27 Jun 2015

Alrayes Nuha, Mohamoud Hussein Sheikh Ali, Jelani Musharraf, Ahmad Saleem, Vadgama Nirmal, Bakur Khadijah, Simpson Michael, Al-Aama Jumana Yousuf, Nasir Jamal

Abstract excerpt

BACKGROUND: Hereditary spastic paraplegias (HSP), a group of genetically heterogeneous neurological disorders with more than 56 documented loci (SPG1-56), are described either as uncomplicated (or pure), or complicated where in addition to spasticity and weakness of lower extremeties, additional neurological symptoms are present, including dementia, loss of vision, epilepsy, mental retardation and ichthyosis. We...

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Source

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Identifiers

PMID: 26113134
DOI: 10.1186/s13104-015-1227-4
PMCID: PMC4482296

Genes

DDHD2

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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