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Article

Incomplete penetrance in an SPG3A -linked family with a new mutation in the atlastin gene

8 Jun 2004

Abstract excerpt

Ten different spastic gait ( SPG ) loci have been associated with autosomal dominant hereditary spastic paraplegia (ADHSP), and thus far five genes have been identified. Mutations in SPG3A gene encoding atlastin account for ∼10% of ADHSP.1 We report an Italian family with pure ADHSP and incomplete penetrance caused by a new mutation in the atlastin gene (figure). Figure. Tree of the family with SPG3A -linked...

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Identifiers

PMID: 15184642
DOI: 10.1212/01.wnl.0000127698.88895.85

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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