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Article

Infantile-onset ascending hereditary spastic paralysis: a case report and brief literature review.

European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society - 1 Mar 2014

Racis Loretta, Tessa Alessandra, Pugliatti Maura, Storti Eugenia, Agnetti Virgilio, Santorelli Filippo M

Abstract excerpt

BACKGROUND: Infantile-onset ascending hereditary spastic paralysis (IAHSP) is a rare, early-onset autosomal recessive motor neuron disease associated with mutations in ALS2. AIM: We studied a 17-year-old boy who had features of IAHSP. We also reviewed the current literature on ALS2-related syndromes. METHODS: Clinical and neuroimaging studies were performed. Blood DNA analyses were combined with mRNA studies in...

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Source

Identifiers

PMID: 24144828
DOI: 10.1016/j.ejpn.2013.09.009

Genes

ALS2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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