Complex Ataxia-Dementia Phenotype in Patients with Digenic TBP/STUB1 Spinocerebellar Ataxia.

Lorenzo NanettiStefania MagriMario FicheraAnna CastaldoAnna NigriChiara PinardiAlessia MongelliLidia SarroDavide PareysonMarina GrisoliCinzia GelleraDaniela Di BellaCaterina MariottiFranco Taroni

Published in: Movement disorders : official journal of the Movement Disorder Society (2023)

phenotype may impact on diagnosis and genetic counseling in the families with both hereditary and sporadic ataxia. The independent segregation of TBP and STUB1 alleles needs to be considered for recurrence risk and predictive genetic tests. © 2023 The Authors. Movement Disorders published by Wiley Periodicals LLC on behalf of International Parkinson and Movement Disorder Society.

Keyphrases

early onset
genome wide
late onset
mild cognitive impairment
copy number
smoking cessation
systematic review
hiv testing
hepatitis c virus
men who have sex with men
human immunodeficiency virus
meta analyses