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Genetic, structural and clinical analysis of spastic paraplegia 4.

Parkinsonism & related disorders - 1 May 2022

Varghaei Parizad, Estiar Mehrdad A, Ashtiani Setareh, Veyron Simon, Mufti Kheireddin, Leveille Etienne, Yu Eric, Spiegelman Dan, Rioux Marie-France, Yoon Grace, Tarnopolsky Mark, Boycott Kym M, Dupre Nicolas, Suchowersky Oksana, Trempe Jean-François, Rouleau Guy A, Gan-Or Ziv

Abstract excerpt

INTRODUCTION: Spastic paraplegia type 4 (SPG4), resulting from heterozygous mutations in the SPAST gene, is the most common form among the heterogeneous group of hereditary spastic paraplegias (HSPs). We aimed to study genetic and clinical characteristics of SPG4 across Canada. METHODS: The SPAST gene was analyzed in a total of 696 HSP patients from 431 families by either HSP-gene panel sequencing or whole exome...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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PMID: 35487127
DOI: 10.1016/j.parkreldis.2022.03.019

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