Frequency of FGF14 intronic GAA repeat expansion in patients with multiple system atrophy and undiagnosed ataxia in the Japanese population.

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Tác giả: Tomohiko Ishihara, Toshiyuki Kakumoto, Takashi Matsukawa, Jun Mitsui, Shinichi Morishita, Osamu Onodera, Kenta Orimo, Yuta Suzuki, Tatsushi Toda, Shoji Tsuji

Ngôn ngữ: eng

Ký hiệu phân loại: 297.1248 Sources of Islam

Thông tin xuất bản: England : European journal of human genetics : EJHG , 2025

Mô tả vật lý:

Bộ sưu tập: NCBI

ID: 688754

Multiple system atrophy (MSA) is a neurodegenerative disorder characterized by autonomic nervous system dysfunction and cerebellar ataxia or parkinsonism. Recently, expanded GAA repeats (≥250 repeat units) in intron 1 of FGF14 have been shown to be responsible for spinocerebellar ataxia type 27B (SCA27B), a late-onset ataxia with an autosomal dominant inheritance. Patients with SCA27B may also exhibit autonomic nervous system dysfunction, potentially overlapping with the clinical presentations of MSA patients. In this study, to explore the possible involvement of expanded GAA repeats in MSA, we investigated the frequencies of expanded GAA repeats in FGF14 in 548 patients with MSA, 476 patients with undiagnosed ataxia, and 455 healthy individuals. To fully characterize the structures of the expanded GAA repeats, long-range PCR products suggesting the expansion of GAA repeats were further analyzed using a long-read sequencer. Of the 548 Japanese MSA patients, we identified one MSA patient (0.2%) carrying an expanded repeat with (GAA)
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