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Expanding the spectrum of KIF5A mutations-case report of a large kindred with familial ALS and overlapping syndrome.

Amyotrophic lateral sclerosis & frontotemporal degeneration - 1 May 2023

Dulski JarosŁaw, Strongosky Audrey J, Al-Shaikh Rana Hanna, Wszolek Zbigniew K

Abstract excerpt

OBJECTIVES: This paper presents the first report of amyotrophic lateral sclerosis (ALS) kindred due to the KIF5A p.Arg1007Lys, a splice-altering variant. METHODS: An index case was a 54-year-old male who developed progressive gait difficulty and imbalance followed by mild parkinsonism, spasticity, neuropathy, ataxia, and cognitive impairment with predominant subcortical frontal involvement. Brain MRI showed...

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PMID: 36604770
DOI: 10.1080/21678421.2022.2164204

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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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