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- W4288045789 abstract "Pathogenic variants in STUB1 can be causal under dominant (SCA48) and recessive (SCAR16) inheritance patterns. We report a SCA48 patient with ataxia, dementia and movement disorders. We describe a 45 year-old man with cognitive impairment, ataxia, bradykinesia, tremor and chorea. A NGS-based multigene panel revealed the presence of a novel heterozygous likely pathogenic variant in STUB1 gene confirming a diagnosis of SCA48. Hyper and hypokinetic movement disorders seems to be a hallmark of SCA48. The frequent association of ataxia, chorea and cognitive impairment suggest consider SCA48 as a differential diagnosis of SCA17 and other Huntington-like disorders. Variantes patogénicas en el gen STUB1 pueden manifestarse bajo un patrón autosómico dominante (SCA48) o recesivo (SCAR16) de herencia. Reportamos un paciente con SCA48 con ataxia, demencia y movimientos anormales. Describimos el caso de un varón de 45 años con compromiso cognitivo, ataxia, bradicinesia, temblor y corea. Mediante un panel de ataxias se evidenció la presencia de una variante nueva probablemente patogénica en el gen STUB1, confirmando el diagnóstico de SCA48. Trastornos del movimiento hipo e hipercinéticos demuestran ser una característica de los pacientes con SCA48. La asociación frecuente de ataxia, compromiso cognitivo y corea lleva a considerar SCA48 como diagnóstico diferencial de SCA17 y otras entidades similares a Huntington." @default.
- W4288045789 created "2022-07-27" @default.
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- W4288045789 date "2022-07-01" @default.
- W4288045789 modified "2023-10-06" @default.
- W4288045789 title "Novel dominant variant in STUB1 causing ataxia, movement disorders and cognitive impairment: A complex phenotype mimicking SCA17" @default.
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- W4288045789 doi "https://doi.org/10.1016/j.neuarg.2022.06.003" @default.
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