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Detection Methods and Status of CAT Interruption of ATXN1 in Korean Patients With Spinocerebellar Ataxia Type 1.

Annals of laboratory medicine - 1 Mar 2022

Jang Ja-Hyun, Yoon Sun Joo, Kim Sun-Kyung, Cho Jin Whan, Kim Jong-Won

Abstract excerpt

Spinocerebellar ataxia type 1 (SCA1) is an autosomal dominant disease caused by abnormal CAG repeat expansion in the ataxin 1 gene (ATXN1). The presence of CAT interruption(s) is important for diagnosing SCA1 in patients with 39-44 repeat alleles, as only uninterrupted alleles are considered abnormal. Determining the CAT interruption status might also be important for patients with >44 repeats, as the length of...

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Identifiers

PMID: 34635619
DOI: 10.3343/alm.2022.42.2.274
PMCID: PMC8548249

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