一个患有常染色体显性遗传性纹状体变性的日本家族中PDE8B基因的新型突变。
A novel mutation of PDE8B Gene in a Japanese family with autosomal-dominant striatal degeneration.
作者信息
Azuma Reo, Ishikawa Kinya, Hirata Kosei, Hashimoto Yuji, Takahashi Makoto, Ishii Kenji, Inaba Akira, Yokota Takanori, Orimo Satoshi
机构信息
Department of Neurology, Kanto Central Hospital, Tokyo, Japan.
Department of Neurology and Neurological Science, Tokyo Medical and Dental University, Tokyo, Japan.
出版信息
Mov Disord. 2015 Dec;30(14):1964-7. doi: 10.1002/mds.26345. Epub 2015 Oct 13.
BACKGROUND
Autosomal-dominant striatal degeneration is a rare autosomal-dominant neurodegenerative movement disorder characterized by slowly progressive parkinsonism. Recently, a mutation of the cyclic nucleotide phosphodiesterase 8B gene was reported to be a causal gene mutation of this disease.
METHODS
We report on the clinical characteristics of 2 patients of a Japanese family with autosomal-dominant striatal degeneration and the result of gene mutation analysis of this family.
RESULTS
Clinical features of the patients are slowly progressive parkinsonism and brain MRI showing high signal intensity in T2-weighted images in the striatum. We found a heterozygous nonsense mutation in the first exon of cyclic nucleotide phosphodiesterase 8B gene, which is predicted to disrupt all important functional domains of the cyclic nucleotide phosphodiesterase 8B protein.
CONCLUSIONS
This family is the second family with autosomal-dominant striatal degeneration after the first German family, confirming that cyclic nucleotide phosphodiesterase 8B gene is the causative gene for this disease.
背景
常染色体显性遗传性纹状体变性是一种罕见的常染色体显性遗传性神经退行性运动障碍，其特征为缓慢进展的帕金森综合征。最近，有报道称环核苷酸磷酸二酯酶8B基因的突变是该疾病的致病基因突变。
方法
我们报告了一个患有常染色体显性遗传性纹状体变性的日本家族中2例患者的临床特征以及该家族的基因突变分析结果。
结果
患者的临床特征为缓慢进展的帕金森综合征，脑部磁共振成像（MRI）显示纹状体在T2加权图像上呈高信号强度。我们在环核苷酸磷酸二酯酶8B基因的第一个外显子中发现了一个杂合性无义突变，预计该突变会破坏环核苷酸磷酸二酯酶8B蛋白的所有重要功能结构域。
结论
该家族是继第一个德国家族之后第二个患有常染色体显性遗传性纹状体变性的家族，证实环核苷酸磷酸二酯酶8B基因是该疾病的致病基因。
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