Clinical and genetic features of PKAN patients in a tertiary centre in Turkey

Neurodegeneration with brain iron accumulation (NBIA) represents a wide spectrum of a genetically and clinically heterogeneous group of progressive motor disorders characterised by excessive iron deposition, particularly affecting the basal ganglia [1]. Homozygous or compound heterozygous mutations in pantothenate kinase 2 gene (PANK2) have been implicated in almost half of the cases with NBIA [1 –3]. These mutations are known to lead to pantothenate kinase-associated neurodegeneration (PKAN), which is the most frequently seen subtype of NBIA [1–3].

Source: Clinical Neurology and Neurosurgery - January 14, 2017 Category: Neurosurgery Authors: Nihan Hande Akcakaya, Sibel Ugur Iseri, Birdal Bilir, Esra Battaloglu, Pinar Tekturk, Murat Gultekin, Gokcen Akar, Remzi Yigiter, Hasmet Hanagasi, Recep Alp, Sultan Cagirici, Mefkure Eraksoy, Ugur Ozbek, Zuhal Yapici Source Type: research