Deep Intronic FGF14 GAA Repeat Expansion in Late-Onset Cerebellar Ataxia

被引：21

作者：

Zeng, Yi-Heng ^{[1
]}

Gan, Shi-Rui ^{[1
]}

Chen, Wan-Jin ^{[1
]}

机构：

[1] Fujian Med Univ, Affiliated Hosp 1, Fuzhou, Peoples R China

来源：

NEW ENGLAND JOURNAL OF MEDICINE | 2023年 / 388卷 / 21期

关键词：

D O I：

10.1056/NEJMc2301605

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

To the Editor: Pellerin et al. (Jan. 12 issue)(1) reported a dominant FGF14 GAA repeat expansion in persons with late-onset cerebellar ataxia. They also identified persons who were homozygous or compound heterozygous for expansions of at least 250 GAA repeats ([GAA](>= 250)), a finding consistent with the possibility of codominance at this locus (with both alleles expressed simultaneously). Here, we report two siblings with early-onset cerebellar ataxia from a consanguineous Chinese family who carried biallelic FGF14 GAA repeat expansions. One of the siblings initially had episodic gait imbalance at 21 years of age; progressive dysarthria, postural tremor, spasticity, and downbeat nystagmus . . .

引用

页数：2

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