The Phenotypic Spectrum of Spinocerebellar Ataxia Type 19 in a Series of Latin American Patients.

Autor: Avila-Jaque D; Sección de Genética, Hospital San Juan de Dios, Santiago, Chile., Martin F; Fundación Arturo López Pérez, Santiago, Chile., Bustamante ML; Fundación Diagnosis, Santiago, Chile.; Programa de Genética Humana, Instituto de Ciencias Biomédicas, Facultad de Medicina Universidad de Chile, Santiago, Chile., Luna Álvarez M; Instituto Nacional de Neurología y Neurocirugía, Mexico City, México., Fernández JM; Clínica Alemana, Santiago, Chile.; Centro de Trastornos del Movimiento (CETRAM), Santiago, Chile., Dávila Ortiz de Montellano DJ; Instituto Nacional de Neurología y Neurocirugía, Mexico City, México., Pardo R; Sección de Genética, Departamento de Medicina, Hospital Clínico de la Universidad de Chile, Santiago, Chile., Varela D; Programa de Fisiología y Biofísica, Instituto de Ciencias Biomédicas, Facultad de Medicina, Universidad de Chile, Santiago, Chile.; Millennium Nucleus of Ion Channels-Associated Diseases (MiNICAD), Universidad de Chile, Santiago, Chile., Miranda M; Fundación Diagnosis, Santiago, Chile. directiva@fundaciondiagnosis.cl.; Clínica MEDS, Santiago, Chile. directiva@fundaciondiagnosis.cl.
Jazyk: angličtina
Zdroj: Cerebellum (London, England) [Cerebellum] 2024 Aug; Vol. 23 (4), pp. 1727-1732. Date of Electronic Publication: 2024 Jan 05.
DOI: 10.1007/s12311-023-01654-x
Abstrakt: Spinocerebellar ataxia 19 (SCA19) represents a rare autosomal dominant genetic disorder resulting in progressive ataxia and cerebellar atrophy. SCA19 is caused by variants in the KCND3 gene, which encodes a voltage-gated potassium channel subunit essential for cerebellar Purkinje cell function. We describe six cases from Chile and Mexico, representing the largest report on SCA19 in Latin America. These cases encompass a range of clinical presentations, highlighting the phenotypic variability within SCA19 from an early-onset, severe disease to a late-onset, slowly progressive condition with normal lifespan. While some patients present with pure ataxia, others also show cognitive impairment, dystonia, and other neurological symptoms. The correlations between specific KCND3 variants and phenotypic outcomes are complex and warrant further investigation. As the genomic landscape of spinocerebellar ataxias evolves, comprehensive genetic testing is becoming pivotal in improving diagnostic accuracy. This study contributes to a better understanding of the clinical spectrum of SCA19, laying the groundwork for further genotype-phenotype correlations and functional studies to elucidate the underlying pathophysiology.
(© 2024. The Author(s), under exclusive licence to Springer Science+Business Media, LLC, part of Springer Nature.)
Databáze: MEDLINE
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