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Identifying SYNE1 ataxia and extending the mutational spectrum in Korea.

Parkinsonism & related disorders - 1 Jan 2019

Kim Ji Sun, Kim Ah Reum, Youn Jinyoung, Lee Chung, Kim Nam-Soon, Park Woong-Yang, Park Jong Kyu, Kim Nayoung K D, Cho Jin Whan

Abstract excerpt

INTRODUCTION: Recent advances in next generation sequencing technologies have uncovered the genetic background of various diseases. The mutations in the SYNE1 gene was previously identified as a potential cause of pure cerebellar ataxia. Although autosomal recessive ataxias are slightly more frequent than autosomal dominant forms worldwide, autosomal recessive forms are extremely rare in Korea. In this study, we...

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PMID: 30119932
DOI: 10.1016/j.parkreldis.2018.08.009

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