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Article

The first ALS2 missense mutation associated with JPLS reveals new aspects of alsin biological function.

Brain : a journal of neurology - 1 Jul 2006

Panzeri Chris, De Palma Clara, Martinuzzi Andrea, Daga Andrea, De Polo Gianni, Bresolin Nereo, Miller Christopher C, Tudor Elizabeth L, Clementi Emilio, Bassi Maria T

Abstract excerpt

Primary lateral sclerosis (PLS) is a rare progressive paralytic disorder that results from dysfunction of the upper motoneurons. Although PLS is a sporadic disorder of adult middle age, it has also been described in children as juvenile PLS or JPLS. The causative gene for JPLS was found to be ALS...

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Source

Identifiers

PMID: 16670179
DOI: 10.1093/brain/awl104

Genes

ALS2
RCC1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-16670179-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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