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Familial Cerebellar Ataxia and Amyotrophic Lateral Sclerosis/Frontotemporal Dementia with DAB1 and C9ORF72 Repeat Expansions: An 18‐Year Study

23 Sept 2022

Abstract excerpt

ABSTRACT Background Coding and noncoding repeat expansions are an important cause of neurodegenerative diseases. Objective This study determined the clinical and genetic features of a large German family that has been followed for almost 2 decades with an autosomal dominantly inherited spinocerebellar ataxia (SCA) and independent co‐occurrence of amyotrophic lateral sclerosis (ALS) and frontotemporal dementia...

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PMID: 36148898
DOI: 10.1002/mds.29221

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