IIMT 25668
INSTITUTO DE INVESTIGACIONES EN MEDICINA TRASLACIONAL
Unidad Ejecutora - UE
artículos
Título:
Novel dominant variant in STUB1 causing ataxia, movement disorders and cognitive impairment: A complex phenotype mimicking SCA17
Autor/es:
LUCIA ZAVALA; JOSEFINA PEREZ MATURO; RODRIGUEZ-QUIROGA, SERGIO ALEJANDRO; KAUFFMAN, MARCELO
Revista:
Neurología Argentina
Editorial:
ELSEVIER
Referencias:
Año: 2022
ISSN:
1853-0028
Resumen:
IntroductionPathogenic 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.Clinical caseWe 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.ConclusionsHyper 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.
