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Article

Motor Neuron Involvement in Two ATP13A2-Related Families: ALS And HSP-Like Phenotypes.

Movement disorders clinical practice - 1 Jun 2025

Khosravi Sepehr, Amini Elaheh, Emamikhah Maziar, Alavi Afagh, Lang Anthony E, Rohani Mohammad

Abstract excerpt

BACKGROUND: Mutations in the ATP13A2 gene have been implicated in various neurodegenerative disorders, including Kufor-Rakeb syndrome (KRS), neuronal ceroid lipofuscinosis (NCL), hereditary spastic paraplegia (HSP), and amyotrophic lateral sclerosis (ALS). This report presents two Iranian families with ATP13A2 variants exhibiting atypical features of KRS. CASES: We highlight four patients from two consanguineous...

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Identifiers

PMID: 40028680
DOI: 10.1002/mdc3.70027
PMCID: PMC12187965

Genes

ATP13A2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026.

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