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Article

Intrafamilial variability in hereditary spastic paraplegia associated with an SPG4 gene mutation.

Neurology - 12 Sept 2000

Santorelli F M, Patrono C, Fortini D, Tessa A, Comanducci G, Bertini E, Pierallini A, Amabile G A, Casali C

Abstract excerpt

The authors studied a family with pure autosomal dominant spastic paraplegia (ADHSP) that showed a marked intrafamilial variability in both age at onset and clinical severity, ranging from severe congenital presentation to mild involvement after age 55. They found a novel mutation in the SPG4 gene, which segregates with the disease in six patients. The mutation affects the consensus donor splice site of SPG4...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 10980739
DOI: 10.1212/wnl.55.5.702

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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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