Shalash Ali S, Rösler Thomas W, Abdelrahman Ibrahim Y, Abulmakarem Hatem S, Müller Stefanie H, Hopfner Franziska, Kuhlenbäumer Gregor, Höglinger Günter U, Salama Mohamed
Department of Neurology, Faculty of Medicine, Ain Shams University, Cairo, Egypt.
Department of Neurology, School of Medicine, Technical University Munich, Munich, Germany.
Heliyon. 2021 Jul 2;7(7):e07469. doi: 10.1016/j.heliyon.2021.e07469. eCollection 2021 Jul.
Pantothenate kinase-associated neurodegeneration (PKAN) is a rare hereditary neurodegenerative disease characterized by an accumulation of iron within the brain. In the present report, we describe a family with 4 affected siblings presenting with variable clinical manifestations, e.g., parkinsonian features, dystonia and slow disease progression over 5 years. Exome sequencing revealed a causative variant in the pantothenate kinase 2 gene (). Variant NM_024960.6:c.710C > T was homozygous in all affected subjects. Our report describes the first genetically confirmed cases of PKAN in the Egyptian population. Studying genetics of neurodegenerative diseases in different ethnicities is very important for determining clinical phenotypes and understanding pathomechanisms of these diseases.
泛酸激酶相关神经变性（PKAN）是一种罕见的遗传性神经退行性疾病，其特征是大脑中铁的蓄积。在本报告中，我们描述了一个有4名患病兄弟姐妹的家庭，他们表现出不同的临床表现，如帕金森样特征、肌张力障碍，且在5年中疾病进展缓慢。外显子组测序揭示了泛酸激酶2基因（）中的一个致病变异。变异NM_024960.6:c.710C>T在所有患病个体中均为纯合子。我们的报告描述了埃及人群中首例经基因确认的PKAN病例。研究不同种族神经退行性疾病的遗传学对于确定临床表型和理解这些疾病的发病机制非常重要。
