Autosomal recessive cerebellar ataxias: a diagnostic classification approach according to ocular features.

ABSTRACT: Autosomal recessive cerebellar ataxias (ARCAs) are a heterogeneous group of neurodegenerative disorders affecting primarily the cerebellum and/or its afferent tracts, often accompanied by damage of other neurological or extra-neurological systems. Due to the overlap of clinical presentation among ARCAs and the variety of hereditary, acquired, and reversible etiologies that can determine cerebellar dysfunction, the differential diagnosis is challenging, but also urgent considering the ongoing development of promising target therapies. The examination of afferent and efferent visual system may provide neurophysiological and structural information related to cerebellar dysfunction and neurodegeneration thus allowing a possible diagnostic classification approach according to ocular features. W

SUBMITTER: Lopergolo D 

PROVIDER: S-EPMC10883068 | biostudies-literature | 2023

REPOSITORIES: biostudies-literature