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Article

Compound heterozygosity in the SPG4 gene causes hereditary spastic paraplegia.

Clinical genetics - 1 Mar 2008

Pantakani D V K, Zechner U, Arygriou L, Pauli S, Sauter S M, Mannan A U

Abstract excerpt

The SPG4 gene is frequently mutated in autosomal dominant form of hereditary spastic paraplegia (HSP). We report that the compound heterozygous sequence variants S44L, a known polymorphism, and c.1687G>A, a novel mutation in SPG4 cause a severe form of HSP in a patient. The family members carrying solely c.1687G>A mutation are asymptomatic for HSP. The reverse transcriptase-polymerase chain reaction (RT-PCR)...

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PMID: 18190593
DOI: 10.1111/j.1399-0004.2007.00953.x

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

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