A cerebellar ataxia patient harboring 229 pure GAA repeat units in FGF14 presenting with grip myotonia

被引：0

作者：

Mori, Yasuko ^{[1
]}

Miyatake, Satoko ^{[2
,3
]}

Kunieda, Kenjiro ^{[1
]}

Yoshikura, Nobuaki ^{[1
]}

Hayashi, Yuichi ^{[1
,4
]}

Higashida, Kazuhiro ^{[1
]}

Kimura, Akio ^{[1
]}

Koshimizu, Eriko ^{[2
]}

Matsumoto, Naomichi ^{[2
]}

Shimohata, Takayoshi ^{[1
]}

机构：

[1] Gifu Univ, Grad Sch Med, Dept Neurol, 1-1 Yanagido, Gifu, Gifu 5011194, Japan

[2] Yokohama City Univ, Grad Sch Med, Dept Human Genet, Yokohama, Japan

[3] Yokohama City Univ Med, Dept Clin Genet, Yokohama, Japan

[4] Tsuruga Nursing Univ, Fac Nursing Sci, Tsuruga, Japan

来源：

NEUROLOGY AND CLINICAL NEUROSCIENCE | 2024年 / 12卷 / 06期

关键词：

ataxia; FGF14; GAA repeats; grip myotonia; SCA27B; EXPANSION;

D O I：

10.1111/ncn3.12826

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

Spinocerebellar ataxia 27 B (SCA27B) is caused by the expansion of GAA repeats in the intron of the fibroblast growth factor 14 (FGF14) on chromosome 13 and is inherited dominantly. An 80-year-old male visited the hospital complaining of ataxic gait and harboring 229 pure GAA repeat units in the FGF14. Almost all the clinical features were similar to that of SCA27B. However, the patient initially presented with episodic grip myotonia, which has not been previously reported.

引用

页码：366 / 368

页数：3

共 19 条

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Zeng, Yi-Heng
Gan, Shi-Rui
Chen, Wan-Jin
NEW ENGLAND JOURNAL OF MEDICINE, 2023, 388 (21):
[2] Deep Intronic FGF14 GAA Repeat Expansion in Late-Onset Cerebellar Ataxia
Pellerin, D.
Danzi, M. C.
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NEW ENGLAND JOURNAL OF MEDICINE, 2023, 388 (02): : 128 - 141
[3] A deep intronic FGF14 GAA repeat expansion causes late-onset cerebellar ataxia
Pellerin, David
Danzi, Matt
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Fazal, Sarah
Dicaire, Marie-Josee
Scribah, Carolin
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JOURNAL OF THE NEUROLOGICAL SCIENCES, 2023, 455
[4] The FGF14 GAA repeat expansion is a major cause of ataxia in the Cypriot population
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[5] Clinical and genetic keys to cerebellar ataxia due to FGF14 GAA expansions
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Renaud, Mathilde
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EBIOMEDICINE, 2024, 99
[6] Deep intronic FGF14 GAA-repeat expansion in late- onset cerebellar ataxia: Last but not least
Anheim, M.
REVUE NEUROLOGIQUE, 2023, 179 (04) : 249 - 250
[7] RFC1 and FGF14 Repeat Expansions in Serbian Patients with Cerebellar Ataxia
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Dragasevic-Miskovic, Natasa
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MOVEMENT DISORDERS CLINICAL PRACTICE, 2024, 11 (06): : 626 - 633
[8] Intronic FGF14 GAA Repeat Expansions are a Common Cause of Ataxia Syndromes with Neuropathy and Bilateral Vestibulopathy
Pellerin, D.
Wilke, C.
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Nagy, S.
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MOVEMENT DISORDERS, 2023, 38 : S313 - S313
[9] Deep intronic FGF14 GAA repeat expansion is a frequent cause of Episodic Ataxia in Italian patients
Sarto, Elisa
Di Bella, Daniela
Magri, Stefania
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EUROPEAN JOURNAL OF HUMAN GENETICS, 2024, 32 : 507 - 507
[10] Intronic FGF14 GAA repeat expansions are a common cause of ataxia syndromes with neuropathy and bilateral vestibulopathy
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JOURNAL OF THE NEUROLOGICAL SCIENCES, 2023, 455

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