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Article

Infantile-onset ascending hereditary spastic paralysis is associated with mutations in the alsin gene.

American journal of human genetics - 1 Sept 2002

Eymard-Pierre Eleonore, Lesca Gaetan, Dollet Sandra, Santorelli Filippo Maria, di Capua Matteo, Bertini Enrico, Boespflug-Tanguy Odile

Abstract excerpt

We studied 15 patients, from 10 families, who presented with severe spastic paralysis with an infantile onset and an ascending progression. Spastic paraplegia began during the first 2 years of life and extended to upper limbs within the next few years. During the first decade of life, the disease progressed to tetraplegia, anarthria, dysphagia, and slow eye movements. Overall, the disease was compatible with long...

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Identifiers

PMID: 12145748
DOI: 10.1086/342359
PMCID: PMC379189

Genes

ALS2

Provenance

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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