Ichiba Mio, Nakamura Masayuki, Kusumoto Akira, Mizuno Emiko, Kurano Yutaka, Matsuda Mieko, Kato Maiko, Agemura Asumi, Tomemori Yuko, Muroya Shinji, Nakabeppu Yoshiaki, Sano Akira
Department of Psychiatry, Kagoshima University Graduate School of Medical and Dental Sciences, Kagoshima University, Japan.
J Neurol Sci. 2007 Dec 15;263(1-2):124-32. doi: 10.1016/j.jns.2007.07.011. Epub 2007 Aug 1.
Chorea-acanthocytosis (ChAc) is an autosomal recessive hereditary disease characterized by neurodegeneration in the striatum and acanthocytosis that is caused by mutations in the VPS13A gene. There are only few reports that studied clinical status of the obligate carriers of ChAc. Clinical courses with follow-up neuroradiological and neuropsychological evaluations in individuals with ChAc have been rarely reported.
We followed an index patient with ChAc and evaluated the clinical features of the pedigree members. Genetic analyses of VPS13A and genes responsible for other neuroacanthocytotic and neurodegenerative diseases were performed.
The index patient was homozygous for a 3889C>T nonsense mutation in the VPS13A gene and presented with a typical ChAc phenotype. Neuropsychological evaluation with brain imaging in the patient over 3 years revealed atrophy and a decrease in blood flow at the basal ganglia and frontal lobe, and impairment in cognitive function reflecting frontal lobe dysfunction in progressive manners. Four out of five heterozygous mutation carriers in the pedigree showed signs or symptoms potentially attributable to a heterozygous VPS13A mutation.
舞蹈病-棘红细胞增多症（ChAc）是一种常染色体隐性遗传性疾病，其特征为纹状体神经变性和由VPS13A基因突变引起的棘红细胞增多症。仅有少数报告研究了ChAc必然携带者的临床状况。很少有关于ChAc患者进行随访神经放射学和神经心理学评估的临床病程报告。
我们追踪了一名ChAc索引患者，并评估了家系成员的临床特征。对VPS13A以及其他导致神经棘红细胞增多症和神经变性疾病的基因进行了遗传分析。
索引患者VPS13A基因存在3889C>T无义突变的纯合子，表现出典型的ChAc表型。对该患者进行超过3年的脑成像神经心理学评估发现，基底神经节和额叶出现萎缩及血流减少，并以渐进方式出现反映额叶功能障碍的认知功能损害。家系中五名杂合突变携带者中有四名表现出可能归因于VPS13A基因杂合突变的体征或症状。
