Hexanucleotide repeat expansions (HREs) in C9orf72 are a major cause of frontotemporal dementia (FTD) and amyotrophic lateral sclerosis (ALS). We aimed to determine the frequency and phenomenology of movement disorders (MD) in carriers of HRE in C9orf72 through a retrospective review of patients' medical records.

Expanding the spectrum of movement disorders associated with C9orf72 hexanucleotide expansions

Magrinelli, Francesca;
2021

Abstract

Hexanucleotide repeat expansions (HREs) in C9orf72 are a major cause of frontotemporal dementia (FTD) and amyotrophic lateral sclerosis (ALS). We aimed to determine the frequency and phenomenology of movement disorders (MD) in carriers of HRE in C9orf72 through a retrospective review of patients' medical records.
Amyotrophic lateral sclerosis
Frontotemporal dementia
Parkinson's disease
Parkinsonism
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Utilizza questo identificativo per citare o creare un link a questo documento: http://hdl.handle.net/11562/1045099
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