Udani Vrajesh, Das Soma, Chhabria Rahul
Department of Pediatrics and Neurology P.D. Hinduja National Hospital & Medical Research Centre Mumbai India.
Department of Human Genetics University of Chicago Chicago IL USA.
Mov Disord Clin Pract. 2016 Apr 5;4(1):96-99. doi: 10.1002/mdc3.12341. eCollection 2017 Jan-Feb.
The early-onset classic form of panthotenate kinase-associated neurodegeneration (PKAN) is a rare genetic disorder of brain iron deposition associated with mutations in the pantothenate kinase 2 gene. Genetic testing was performed in 17 patients with early-onset classic PKAN and 2 atypical patients identified from a clinic database. Seventeen patients with early-onset classic disease exhibited pathogenic mutations in the panthotenate kinase 2 (PANK2) gene. One atypical patient had an indeterminate result and the other atypical case was later confirmed to have late-onset GM1 gangliosidosis. Of the 17, 13 belonged to the Agrawal community, with a common truncating mutation, c.215_216insA, in the homozygous state in all, which is highly suggestive of a founder effect. Of the remaining 4 patients, 2 had novel mutations. PKAN is the third neurological disease after megelencephalic leukoencephalopathy with subcortical cysts and calpainopathy with founder mutations in the Agrawal community.
早发型经典型泛酸激酶相关神经变性（PKAN）是一种罕见的脑铁沉积遗传性疾病，与泛酸激酶2基因突变有关。对从临床数据库中识别出的17例早发型经典型PKAN患者和2例非典型患者进行了基因检测。17例早发型经典型疾病患者在泛酸激酶2（PANK2）基因中表现出致病性突变。1例非典型患者结果不确定，另1例非典型病例后来被确诊为晚发型GM1神经节苷脂病。在这17例患者中，13例属于阿格拉瓦尔群体，均为纯合状态的常见截短突变c.215_216insA，这强烈提示存在奠基者效应。其余4例患者中，2例有新的突变。PKAN是继巨脑性白质脑病伴皮质下囊肿和钙蛋白酶病之后，阿格拉瓦尔群体中出现奠基者突变的第三种神经疾病。
