Research on 16q-linked autosomal dominant cerebellar ataxia (16q-ADCA)

16q连锁常染色体显性小脑性共济失调（16q-ADCA）的研究

• 批准号: 19590985
• 负责人: YOSHIDA Kunihiro
• 金额: $ 2.75万
• 依托单位: Shinshu University
• 依托单位国家: 日本
• 项目类别: Grant-in-Aid for Scientific Research (C)
• 财政年份: 2007
• 资助国家: 日本
• 起止时间: 2007 至 2009
• 项目状态: 已结题
• 来源: https://kaken.nii.ac.jp/grant/KAKENHI-PROJECT-19590985/
• 关键词: 脊髄小脳変性症; 常染色体優性遺伝; puratrophin-1; 挿入変異; 脊髄小脳失調症31型; 5塩基繰り返し配列; 連鎖解析; 遺伝子診断; 一塩基多型

長野県は脊髄小脳失調症31型(SCA31)の好発地域であり(常染色体優性遺伝性脊髄小脳変性症の約40%強)、現在までに71家系を集積した。SCA31患者66名(49家系)の臨床的な検討では、SCA31は6型(SCA6)と同様に純粋小脳型を呈するが、発症年齢はSCA6に比べて明らかに高齢であり、また眼振の頻度が低かった。さらに94名(71家系)の患者を対象に最近新たに同定された挿入変異を検証した。患者全員で挿入変異が確認され、その長さは2.6-3.7kbであった。一方、健常者にも稀ながら(約0.7%)当該領域に挿入配列が見られ、その長さは1.0-3.5kbであった。患者の挿入配列には(TGGAA)5塩基繰り返しが見られたが、健常者のそれには(TGGAA)5塩基繰り返しが見られなかった。SCA31の発症には挿入配列の部位や長さよりも、挿入内の特異的な5塩基繰り返し配列が大きく関与している可能性が示唆された。

Nagano has 71 pedigrees of SCA31 (autosomal dominant inherited SCA31), which is a common occurrence area. The clinical investigation of 66 patients (49 families) with SCA31 showed that SCA 31 had type 6 (SCA6) and the same type had a pure small pattern, and the incidence of SCA6 was higher than that of normal eyes, and the frequency of eye vibration was lower. 94 patients (71 families) were identified as having recently been diagnosed as having different symptoms. All patients were admitted to the hospital for confirmation, and the length was 2.6-3.7kb. A square, healthy and rare (about 0.7%) when the field is included in the list, the length is 1.0-3.5kb. The patient is assigned to the (TGGAA)5-base group, and the normal group is assigned to the (TGGAA)5-base group. SCA31's development is related to the location of the insertion and the possibility of the insertion of specific 5-D elements into the insertion and the insertion.

项目成果

Congenital fibrosis of the extraocular muscles (CFEOM) syndrome associated with progressive cerebellar ataxia.

先天性眼外肌纤维化（CFEOM）综合征与进行性小脑共济失调相关。

• 发表时间: 2007
• 期刊: Am J Med Genet 143A
• 作者: Yoshida K;Okano T;Hoshi K;et al. (計9名)
• 通讯作者: et al. (計9名)

Analysis of an insertion mutation in a cohort of 94 patients with spinocerebellar ataxia type 31 from Nagano, Japan.

• DOI: 10.1007/s10048-010-0245-6
• 发表时间: 2010-10
• 期刊: NEUROGENETICS
• 影响因子: 2.2
• 作者: Sakai, Haruya;Yoshida, Kunihiro;Shimizu, Yusaku;Morita, Hiroshi;Ikeda, Shu-ichi;Matsumoto, Naomichi
• 通讯作者: Matsumoto, Naomichi

Severity and Progression Rate of Cerebellar Ataxia in 16q-linked Autosomal Dominant Cerebellar Ataxia (16q-ADCA) in the Endemic Nagano Area of Japan

• DOI: 10.1007/s12311-008-0062-8
• 发表时间: 2009-03-01
• 期刊: CEREBELLUM
• 影响因子: 3.5
• 作者: Yoshida, Kunihiro;Shimizu, Yusaku;Ikeda, Shu-ichi
• 通讯作者: Ikeda, Shu-ichi

Spinocerebellar ataxia type 6 (SCA6) : Clinical pilot trial with gabapentin. 278 : 107-111, 2009.

脊髓小脑性共济失调 6 型 (SCA6)：加巴喷丁的临床试验。

• 发表时间: 2009
• 期刊: J Neurol Sci 278
• 作者: Nakamura K;Yoshida K;Miyazaki D;Morita H;Ikeda S.
• 通讯作者: Ikeda S.

Congenital fibrosis of the extraocular muscles(CFEOM)syndrome as sociated with progressive cerebellar ataxia

先天性眼外肌纤维化（CFEOM）综合征与进行性小脑共济失调有关

• 发表时间: 2007
• 期刊: Am J Med Genet 143A
• 作者: Yoshida K;Okano T;Hoshi K;et. al.
• 通讯作者: et. al.