Autosomal dominant, familial spastic paraplegia, type I: clinical and genetic analysis of a large North American family.

doi:10.1212/wnl.45.2.325

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Article

Autosomal dominant, familial spastic paraplegia, type I: clinical and genetic analysis of a large North American family.

Neurology - 1 Feb 1995

Fink J K, Sharp G B, Lange B M, Wu C B, Haley T, Otterud B, Peacock M, Leppert M

Abstract excerpt

"Familial spastic paraplegia" (FSP) refers to clinically and genetically diverse syndromes characterized by insidiously progressive lower extremity spasticity. We evaluated 126 members of a large kindred, including 31 affected subjects, in which FSP was transmitted as a stereotyped, autosomal dominant disorder that showed complete genetic penetrance. Affected subjects developed insidiously progressive gait...

Topics

Adolescent
Adult
Age Factors
Age of Onset
Alleles
Child
DNA
Female
Genes, Dominant
Genetic Linkage
Genetic Markers
Humans

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Leukocytes

Lod Score

Male

North America

Paraplegia

Pedigree

Source

Open in PubMed

Identifiers

PMID: 7854534
DOI: 10.1212/wnl.45.2.325

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-7854534-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 29 Aug 2026.

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