title: Amyotrophic lateral sclerosis and frontotemporal lobar degeneration in association with CADASIL.
abstract: Amyotrophic lateral sclerosis (ALS) can present with heterogeneous symptoms resulting from the involvement of multiple brain systems including extramotor cortical areas. Involvement of other brain areas can cause diverse clinical symptoms including cognitive impairment and extrapyramidal symptoms. We report the case of a 50-year-old woman with bulbar onset ALS and frontotemporal lobar degeneration (FTLD), confirmed as cerebral autosomal-dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL). The patient and her first-degree relatives harbored a mutation (R75P) in the NOTCH3 gene, indicative of vascular deficits. The details of this case add plausibility to the idea that ALS, FTLD, and CADASIL are different aspects of a spectrum of disorders with overlapping pathologic mechanisms.
authors.affiliation: Department of Neurology, College of Medicine, Hanyang University, Seoul, South Korea.
authors.forename: Hee-Jin
authors.initials: HJ
authors.lastname: Kim
authors.forename: Hyun Young
authors.initials: HY
authors.lastname: Kim
authors.forename: Won Ki
authors.initials: WK
authors.lastname: Paek
authors.forename: Aram
authors.initials: A
authors.lastname: Park
authors.forename: Mee
authors.initials: M
authors.lastname: Young Park
authors.forename: Chang Seok
authors.initials: CS
authors.lastname: Ki
authors.forename: Hyeon-Mi
authors.initials: HM
authors.lastname: Park
authors.forename: Seung H
authors.initials: SH
authors.lastname: Kim
mesh_terms: D000328:Adult; D000690:Amyotrophic Lateral Sclerosis / Q000150:complications / Q000235:genetics* / Q000473:pathology; D046589:CADASIL / Q000150:complications / Q000235:genetics* / Q000473:pathology; D005260:Female; D057174:Frontotemporal Lobar Degeneration / Q000150:complications / Q000235:genetics* / Q000473:pathology; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D006801:Humans; D008875:Middle Aged; D009154:Mutation / Q000235:genetics