Article

Spinocerebellar ataxia type 19: a series of patients from Latin America. Phenotypic spectrum from early-onset to late-onset slowly progressive ataxia

2023-10-27

Abstract excerpt

Spinocerebellar ataxia 19 (SCA19) represents a rare autosomal dominant genetic disorder resulting in progressive ataxia and cerebellar atrophy. It is caused by variants in the KCND3 gene , which encodes a voltage-gated potassium channel subunit, essential for cerebellar Purkinje cell function. We present 6 cases from Chile and México, representing the largest report of SCA19 in Latin America. These cases encompass...

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work: 9c684331-36bf-5eda-9131-f533a96cb815
DOI: 10.21203/rs.3.rs-3467605/v1

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

Spinocerebellar ataxia type 19: a series of patients from Latin America. Phenotypic spectrum from early-onset to late-onset slowly progressive ataxiaDOI 10.21203/rs.3.rs-3467605/v1Read

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

Novel De Novo KCND3 Mutation in a Japanese Patient with Intellectual Disability, Cerebellar Ataxia, Myoclonus, and Dystonia.Semantic proximity Read

Spinocerebellar Ataxia in Brazil: A Comprehensive Genotype - Phenotype Analysis.Semantic proximity Read

Spinocerebellar Ataxia in Brazil: A Comprehensive Genotype–Phenotype AnalysisSemantic proximity Read

Spinocerebellar ataxia 27B: A novel, frequent and potentially treatable ataxia.Semantic proximity Read

Spinocerebellar Ataxia Type 23 (SCA23): a rare cause of SCA in the AmericasSemantic proximity Read

Clinical and Genetic Characteristics of SCA27B: A Global Systematic Review and Meta- AnalysisSemantic proximity Read

First de novo KCND3 mutation causes severe Kv4.3 channel dysfunction leading to early onset cerebellar ataxia, intellectual disability, oral apraxia and epilepsySemantic proximity Read

The spinocerebellar ataxias.Semantic proximity Read

Mutations in KCND3 cause spinocerebellar ataxia type 22.Semantic proximity Read

Spinocerebellar ataxia type 11 (SCA11): An update.Semantic proximity Read