title: Mitochondrial membrane protein associated neurodegenration: a novel variant of neurodegeneration with brain iron accumulation.
abstract: BACKGROUND
  Recently, mutations in an open-reading frame on chromosome 19 (C19orf12) were identified as a novel genetic factor in neurodegeneration with brain iron accumulation (NBIA). Because of the mitochondrial localization of the derived protein, this variant is referred to as mitochondrial membrane protein-associated neurodegeneration with brain iron accumulation (MPAN).
  
  
  RESULTS
  We describe the clinical phenotype and MRI of 3 newly identified individuals with MPAN due to either previously reported or novel homozygous or compound heterozygous genetic alterations in C19orf12.
  
  
  CONCLUSIONS
  MPAN is characterized by a juvenile-onset, slowly progressive phenotype with predominant lower limb spasticity, generalized dystonia, and cognitive impairment. Typical additional features include axonal motor neuropathy and atrophy of the optic nerve. MRI showed iron deposition in the globus pallidus and substantia nigra without the eye-of-the-tiger sign, which is typical for PKAN, the most frequent form of NBIA.
authors: Neurologische Klinik und Poliklinik, Klinikum rechts der Isar, Technische Universität München, Munich, Germany.
authors: Eva C
authors: EC
authors: Schulte
authors: Malte C
authors: MC
authors: Claussen
authors: Angela
authors: A
authors: Jochim
authors: Tobias
authors: T
authors: Haack
authors: Monika
authors: M
authors: Hartig
authors: Maja
authors: M
authors: Hempel
authors: Holger
authors: H
authors: Prokisch
authors: Ursula
authors: U
authors: Haun-Jünger
authors: Juliane
authors: J
authors: Winkelmann
authors: Bernhard
authors: B
authors: Hemmer
authors: Annette
authors: A
authors: Förschler
authors: Rüdiger
authors: R
authors: Ilg
mesh_terms: D000293:Adolescent; D000328:Adult; D017668:Age of Onset; D001284:Atrophy; D001921:Brain / Q000473:pathology; D001923:Brain Chemistry / Q000235:genetics*; D002648:Child; D005260:Female; D020233:Gait Disorders, Neurologic / Q000209:etiology / Q000503:physiopathology; D005917:Globus Pallidus / Q000473:pathology; D006801:Humans; D007501:Iron / Q000378:metabolism*; D008279:Magnetic Resonance Imaging; D008297:Male; D033681:Mitochondrial Membrane Transport Proteins / Q000235:genetics*; D016472:Motor Neuron Disease / Q000235:genetics / Q000473:pathology; D009069:Movement Disorders / Q000209:etiology / Q000503:physiopathology; D019636:Neurodegenerative Diseases / Q000235:genetics* / Q000503:physiopathology; D009901:Optic Nerve Diseases / Q000235:genetics / Q000473:pathology; D006211:Pantothenate Kinase-Associated Neurodegeneration / Q000235:genetics* / Q000503:physiopathology; D010375:Pedigree; D010641:Phenotype; D013378:Substantia Nigra / Q000473:pathology; D055815:Young Adult
chemical_list: D033681:Mitochondrial Membrane Transport Proteins; D007501:Iron