title: CADASIL and ALS: a link?
abstract: We report the case of a 66-year-old female who presented with dysarthria and dysphonia. Brain MRI abnormalities showed confluent white matter lesions and subcortical lacunar infarcts, suggesting cerebral autosomal dominant arteriopathy with subcortical infarcts and leucoencephalopathy (CADASIL), confirmed by the presence of a heterozygous mutation in the Notch3 gene. Clinical signs and course were consistent with amyotrophic lateral sclerosis (ALS) as was the electromyographic pattern. The possible pathogenic role for a mutation in the Notch3 gene is discussed considering recent data on hypoxia in the pathophysiology of ALS.
authors.affiliation: ALS Centre, Service de Neurologie et de Neurophysiologie Clinique, CHRU, Tours, France. julien.praline@med.univ-tours.fr
authors.forename: Julien
authors.initials: J
authors.lastname: Praline
authors.forename: Nadege
authors.initials: N
authors.lastname: Limousin
authors.forename: Patrick
authors.initials: P
authors.lastname: Vourc'h
authors.forename: Maud
authors.initials: M
authors.lastname: Pallix
authors.forename: Severine
authors.initials: S
authors.lastname: Debiais
authors.forename: Anne-marie
authors.initials: AM
authors.lastname: Guennoc
authors.forename: Christian R
authors.initials: CR
authors.lastname: Andres
authors.forename: Philippe
authors.initials: P
authors.lastname: Corcia
mesh_terms: D000690:Amyotrophic Lateral Sclerosis / Q000150:complications* / Q000175:diagnosis; D046589:CADASIL / Q000150:complications* / Q000175:diagnosis; D002540:Cerebral Cortex / Q000473:pathology; D005260:Female; D006801:Humans; D008279:Magnetic Resonance Imaging / Q000379:methods; D008875:Middle Aged