Another new publication!
Congratulations to Adolfo Ramirez-Zamora, Mallory Eisel, Anson Wang, Matthew Vasquez, Matthew Burns, Lauren Fanty, Bhavana Patel, E Lee Kugelmann, Matthew Farrer, Shannon Chiu, S H Subramony, Michael S Okun, Takashi Tsuboi on the publication of “Cerebellar Ataxia and Chorea: Genetic Etiologies and Key Considerations for Diagnosis and Management.” This article appears in the June edition of Movement Disorders Clinical Practice.
Abstract
Background: The differential diagnosis of progressive ataxia is broad. Multiple degenerative, inherited, and acquired causes of ataxia must be considered. The presence of chorea as part of the clinical phenotype provides invaluable clinical information which may help to narrow the differential.
Objectives: There are a limited number of conditions with both prominent chorea and cerebellar ataxia, and it is essential for clinicians to recognize these disorders to direct early disease-specific treatment. We aim to identify these conditions and propose a diagnostic approach.
Methods: We conducted a literature search on PubMed from January 2000 to January 2025 using search terms including “ataxia,” “cerebellar ataxia,” “chorea,” and “ataxia-chorea syndromes.”
Results: We identify and examine the key clinical features of several inherited disorders with this unique clinical phenotype, including spinocerebellar ataxias, Huntington’s disease, dentatorubral-pallidoluysian atrophy, ataxia telangiectasia, disorders of brain iron metabolism, Wilson’s disease, Niemann-Pick disease type C, ataxia with oculomotor apraxia, glucose transporter type 1 deficiency, mitochondrial cytopathies, along with other rare genetic and metabolic disorders. We provide insight into diagnostic approach and genetic testing with focus on identifying treatable conditions.
Conclusions: Features unique to each disorder are discussed, along with current treatment and diagnostic considerations.