title: Mitochondrial protein associated neurodegeneration - case report.
abstract: Neurodegeneration with brain iron accumulation (NBIA) is a group of genetic disorders with a progressive extrapyramidal syndrome and excessive iron deposition in the brain, particularly in the globus pallidus and substantia nigra. We present the case of a 31-year-old woman with mitochondrial protein associated neurodegeneration (MPAN). MPAN is a new identified subtype of NBIA, caused by mutations in C19orf12 gene. The typical features are speech and gait disturbances, dystonia, parkinsonism and pyramidal signs. Common are psychiatric symptoms such as impulsive or compulsive behavior, depression and emotional lability. In almost all cases, the optic atrophy has been noted and about 50% of cases have had a motor axonal neuropathy. In the MRI on T2- and T2*-weighted images, there are hypointense lesions in the globus palidus and substantia nigra corresponding to iron accumulation.
authors.affiliation: 2nd Department of Neurology, Institute of Psychiatry and Neurology, Warsaw, Poland.
authors.forename: Bożena
authors.initials: B
authors.lastname: Kłysz
authors.affiliation: 2nd Department of Neurology, Institute of Psychiatry and Neurology, Warsaw, Poland. Electronic address: marta.ms@simplusnet.pl.
authors.forename: Marta
authors.initials: M
authors.lastname: Skowrońska
authors.affiliation: Department of Neurology and Epileptology, The Children's Memorial Health Institute, Warsaw, Poland.
authors.forename: Tomasz
authors.initials: T
authors.lastname: Kmieć
mesh_terms: D000328:Adult; D001921:Brain / Q000473:pathology; D004421:Dystonia / Q000473:pathology; D005260:Female; D020233:Gait Disorders, Neurologic / Q000209:etiology / Q000235:genetics / Q000503:physiopathology; D020271:Heredodegenerative Disorders, Nervous System / Q000000981:diagnostic imaging / Q000235:genetics* / Q000473:pathology / Q000503:physiopathology; D006801:Humans; D019189:Iron Metabolism Disorders / Q000235:genetics*; D008279:Magnetic Resonance Imaging; D001523:Mental Disorders / Q000150:complications / Q000235:genetics / Q000523:psychology; D024101:Mitochondrial Proteins / Q000235:genetics*; D009154:Mutation; D009460:Neurologic Examination; D009896:Optic Atrophy / Q000235:genetics; D012563:Schizophrenia, Paranoid / Q000235:genetics / Q000523:psychology; D014463:Ultrasonography
chemical_list: C568481:C19orf12 protein, human; D024101:Mitochondrial Proteins
keywords: C19orf12; Mitochondrial protein associated neurodegeneration; Mitochondrial protein associated neurodegeneration (MPAN); Neurodegeneration with brain iron accumulation (NBIA)