Expanding the Genetic Landscape of <i>ATXN2</i> Variants

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Authors

Jacob Saucier · University of New Brunswick

Mohammad Al-Qadi · University of New Brunswick

Éric P. Allain · Université de Moncton

Philippe-Pierre Robichaud · Université de Moncton

Ludivine Chamard-Witkowski · University of New Brunswick

Mario Alvarez · Dr. Georges-L.-Dumont University Hospital Centre

Anne-Marie Dion-Côté

Abstract

This study describes a novel <i>ATXN2</i> expansion within the classic pathogenic range for SCA2 that manifests as an early-onset neurodegenerative disorder in the homozygous state, while being asymptomatic into late adulthood in the heterozygous state.

Topics & Keywords

Neurological diseases and metabolism Genetic Neurodegenerative Diseases Hereditary Neurological Disorders

Publication Details

Published in: Neurology Genetics

Volume 12, Issue 1, pp. e200345-e200345

DOI: 10.1212/nxg.0000000000200345

Field-Weighted Citation Impact: 0.00

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Expanding the Genetic Landscape of <i>ATXN2</i> Variants

Authors

Abstract

Topics & Keywords

Publication Details