title: Novel mutation in the PANK2 gene leads to pantothenate kinase-associated neurodegeneration in a Pakistani family.
abstract: Pantothenate kinase-associated neurodegeneration is an autosomal-recessive disorder associated with the accumulation of iron in the basal ganglia. The disease presents with dystonia, rigidity, and gait impairment, leading to restriction of activities and loss of ambulation. The disorder is caused by defective iron metabolism associated with mutations in the PANK2 gene, which codes for the pantothenate kinase enzyme. We report on a mutation screen conducted in two siblings to establish a molecular diagnosis of the disease and a genetic test for the family.
authors: Department of Biological and Biomedical Sciences, Aga Khan University, Karachi, Pakistan. ds436@medschl.cam.ac.uk
authors: Danish
authors: D
authors: Saleheen
authors: Tuba
authors: T
authors: Ali
authors: Zarmeneh
authors: Z
authors: Aly
authors: Bhojo
authors: B
authors: Khealani
authors: Philippe M
authors: PM
authors: Frossard
mesh_terms: D000293:Adolescent; D019943:Amino Acid Substitution; D001479:Basal Ganglia / Q000378:metabolism*; D002648:Child; D003545:Cysteine; D004252:DNA Mutational Analysis; D005808:Genes, Recessive; D006720:Homozygote; D006801:Humans; D007501:Iron / Q000378:metabolism*; D008297:Male; D009154:Mutation; D009410:Nerve Degeneration / Q000235:genetics* / Q000378:metabolism* / Q000503:physiopathology; D010154:Pakistan; D017853:Phosphotransferases (Alcohol Group Acceptor) / Q000235:genetics*; D014443:Tyrosine
chemical_list: D014443:Tyrosine; D007501:Iron; D017853:Phosphotransferases (Alcohol Group Acceptor); C023088:pantothenate kinase; D003545:Cysteine