Clinical

Targeted next-generation sequencing study in familial ALS-FTD Portuguese patients negative for C9orf72 HRE

6 days ago   |   By Springer

Abstract
Amyotrophic lateral sclerosis is a neurodegenerative disease with clinical and etiological heterogeneity and a complex genetic contribution. Clinical, neuropathological, and genetic evidence revealed that ALS and frontotemporal dementia are in part of a single disease continuum. Genetic causes have been identified in sporadic and familial patients and the recurrent genetic factor underlying ALS and FTD is the C9orf72 hexanucleotide repeat expansion. However, in our population, the concomitance of ALS and FTD cannot be explained by C9orf72 HRE in many FALS and SALS cases. Our aim...
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