Rare association between spinocerebellar ataxia and amyotrophic lateral sclerosis: a case series.
Valerio FerrariMatteo ContiRoberta BovenziRocco CerroniMariangela PierantozziNicola B MercuriAlessandro StefaniPublished in: Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology (2024)
CAG repeat expansions in the ATXN2 gene have been associated with variable neurological presentations, which include SCA2, ALS, Parkinsonism, or a combination of them. Further research is needed to understand the relationship between SCA2 and ALS better and explore molecular underlying mechanisms.