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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 electromyo-graphic pattern. The possible pathogenic role for a mutation in the Notch3 gene is discussed considering recent data on hypoxia in the pathophysiology of ALS.
Acknowledgements
The authors thank E. Tournier-Lasserve (Centre de référence des maladies vasculaires rares du cerveau et de l'œil (CERVCO), Hôpital Lariboisière, Paris, France) for genetic analysis of Notch3 gene and laboratory technicians (Antar, Thepault, Guillonneau, Besson, Le Garrec, Heroux; Laboratoire de Biochimie et Biologie Moléculaire, CHRU de Tours) for analyses of SMN1, SOD1and angiogenin genes.
Declaration of interest: The authors report no conflicts of interest. The authors alone are responsible for the content and writing of the paper.