Regional distribution of polymorphisms associated to the disease-causing gene of spinocerebellar ataxia type 3.

doi:10.1007/s00415-024-12829-9

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Article

Regional distribution of polymorphisms associated to the disease-causing gene of spinocerebellar ataxia type 3.

Journal of neurology - 12 Dec 2024

Elter Tim Lukas, Sturm Daniel, Santana Magda M, Schaprian Tamara, Raposo Mafalda, Melo Ana Rosa Vieira, Lima Manuela, Koyak Berkan, Oender Demet, Grobe-Einsler Marcus, Lopes Sara, Silva Patrick, de Almeida Luís Pereira, Giunti Paola, Garcia-Moreno Hector, Nethisinhe Suran, de Vries Jeroen, van de Warrenburg Bart P, van Gaalen Judith, Synofzik Matthis, Schöls Ludger, Reetz Kathrin, Erdlenbruch Friedrich, Jacobi Heike, Infante Jon, Riess Olaf, Klockgether Thomas, Faber Jennifer, Hübener-Schmid Jeannette

Abstract excerpt

INTRODUCTION: Knowledge about the distribution and frequency of the respective haplotypes on the wildtype and mutant allele is highly relevant in the context of future gene therapy clinical studies in Spinocerebellar Ataxia Type 3, the most common autosomal dominantly inherited ataxia. Single nucleotide polymorphisms associated to the disease-causing gene, ATXN3, have been determined. We wanted to investigate the...

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PMID: 39666145
DOI: 10.1007/s00415-024-12829-9
PMCID: PMC11638412

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