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Article

Maspardin is mutated in mast syndrome, a complicated form of hereditary spastic paraplegia associated with dementia.

American journal of human genetics - 1 Nov 2003

Simpson Michael A, Cross Harold, Proukakis Christos, Pryde Anna, Hershberger Ruth, Chatonnet Arnaud, Patton Michael A, Crosby Andrew H

Abstract excerpt

Mast syndrome is an autosomal recessive, complicated form of hereditary spastic paraplegia with dementia that is present at high frequency among the Old Order Amish. Subtle childhood abnormalities may be present, but the main features develop in early adulthood. The disease is slowly progressive,...

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Share to Adaptor Proteins, Signal Transducing
Share to Chromosomes, Human, Pair 15

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 14564668
DOI: 10.1086/379522
PMCID: PMC1180493

Genes

SPG21

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026. Prepared record publication-14564668-2026-09-01.1. Manifest publication-graph-cohort-2026-09-01.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 1 Sept 2026.

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Maspardin is mutated in mast syndrome, a complicated form of hereditary spastic paraplegia associated with dementia.PMID 14564668Read ↗

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