Re-analysis of the Hungarian amyotrophic lateral sclerosis population and evaluation of novel ALS genetic risk variants

Zsófia Flóra Nagy,Margit Pál,András Salamon,Gloria Kafui Esi Zodanu,Dalma Füstös,Péter Klivényi,Márta Széll

Neurobiology of Aging（2022）

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摘要

•ATXN2 intermediate repeat expansions may be ALS-associated among Hungarian patients.•ATXN1 intermediate alleles were found more frequently than noted from Europe.•Variants of uncertain significance were detected in genes linked to ALS before.•Neither SMN1 nor SMN2 confer genetic risk of ALS in the Hungarian population.

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关键词

Amyotrophic lateral sclerosis,Oligogenic inheritance,Risk factors,Mutation screening,Next generation sequencing,Multiplex ligation-dependent probe amplification

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