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Unraveling the genetic landscape of undiagnosed cerebellar ataxia in Brazilian patients.

Parkinsonism & related disorders - 1 Feb 2024

Novis Luiz Eduardo, Alavi Shahryar, Pellerin David, Della Coleta Marcus Vinicius, Raskin Salmo, Spitz Mariana, Cortese Andrea, Houlden Henry, Teive Helio Afonso

Abstract excerpt

INTRODUCTION: Hereditary ataxias (HAs) encompass a diverse and genetically intricate group of rare neurodegenerative disorders, presenting diagnostic challenges. Whole-exome sequencing (WES) has significantly improved diagnostic success. This study aimed to elucidate genetic causes of cerebellar ataxia within a diverse Brazilian cohort. METHODS: Biological samples were collected from individuals with sporadic or...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 38145611
DOI: 10.1016/j.parkreldis.2023.105961

Genes

RFC1
ZFHX3
KIF1A

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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