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Article

Atypical features including acquired oculomotor apraxia in C9orf72-associated familial primary lateral sclerosis.

Journal of neuromuscular diseases - 1 Jul 2026

Hostetler Nathan, Zakutney Sydney, Pringle Catherine Elizabeth, Zwicker Jocelyn, Breiner Ari

Abstract excerpt

BACKGROUND: The phenotypic variability of C9orf72-associated disease is broadening, including atypical and non-motor presentations. C9orf72-associated neurodegeneration has only rarely been associated with primary lateral sclerosis (PLS), and even more rarely with ocular motor apraxia. OBJECTIVES: Describe a family with C9orf72 mutation presenting with frontotemporal dementia (FTD) and atypical PLS phenotypes and...

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Aged
Amyotrophic Lateral Sclerosis
Apraxias
C9orf72 Protein
Frontotemporal Dementia

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Motor Neuron Disease

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Identifiers

PMID: 41004400
DOI: 10.1177/22143602251380427
PMCID: PMC13434936

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026.

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