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Article

Extremely severe complicated spastic paraplegia 3A with neonatal onset.

Pediatric neurology - 1 Nov 2014

Yonekawa Takahiro, Oya Yasushi, Higuchi Yujiro, Hashiguchi Akihiro, Takashima Hiroshi, Sugai Kenji, Sasaki Masayuki

Abstract excerpt

BACKGROUND: Spastic paraplegia 3A typically manifests in childhood as an uncomplicated form of hereditary spastic paraplegia with slow progression. Most affected individuals present with spasticity and weakness in the legs before the end of the first decade. PATIENT: We describe a 12-year-old boy with neonatal onset of extremely severe complicated spastic paraplegia 3A associated with a de novo c.1226G>A...

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Source

Identifiers

PMID: 25193411
DOI: 10.1016/j.pediatrneurol.2014.07.027

Genes

ATL1

Variants

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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