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Article

De novo occurrence of novel SPG3A/atlastin mutation presenting as cerebral palsy.

Archives of neurology - 1 Mar 2006

Rainier Shirley, Sher Carron, Reish Orit, Thomas Donald, Fink John K

Abstract excerpt

BACKGROUND: Mutations in the SPG3A gene (atlastin protein) cause approximately 10% of autosomal-dominant hereditary spastic paraplegia. For many subjects with an SPG3A mutation, spastic gait begins in early childhood and does not significantly worsen even over many years. Such subjects resemble those with spastic diplegic cerebral palsy. To date, only 9 SPG3A mutations have been reported. OBJECTIVE: To analyze...

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Identifiers

PMID: 16533974
DOI: 10.1001/archneur.63.3.445

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

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