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Article

Eye movement alterations in presymptomatic C9orf72 expansion gene carriers.

Journal of neurology - 1 Sept 2021

Behler Anna, Knehr Antje, Finsel Julia, Kunz Martin S, Lang Christina, Müller Kathrin, Müller Hans-Peter, Pinkhardt Elmar H, Ludolph Albert C, Lulé Dorothée, Kassubek Jan

Abstract excerpt

OBJECTIVE: The clinical manifestation of amyotrophic lateral sclerosis (ALS) is characterized by motor neuron degeneration, whereas frontotemporal dementia (FTD) patients show alterations of behavior and cognition. Both share repeat expansions in C9orf72 as the most prevalent genetic cause. Before disease-defining symptoms onset, structural and functional changes at cortical level may emerge in C9orf72 carriers....

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Identifiers

PMID: 33709219
DOI: 10.1007/s00415-021-10510-z
PMCID: PMC8357645

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