Global investigation and meta-analysis of the <i>C9orf72</i> (G ₄ C ₂ ) _n repeat in Parkinson disease

Abstract

Together, these findings indicate that expansions in C9orf72 do not have a major role in the pathogenesis of PD. Testing for C9orf72 repeat expansions should only be considered in patients with PD who have overt symptoms of frontotemporal lobar degeneration/amyotrophic lateral sclerosis or apparent family history of neurodegenerative dementia or motor neuron disease.