New NBIA subtype: genetic, clinical, pathologic, and radiographic features of MPAN

• Published in: Neurology Vol. 80; no. 3; p. 268
• Main Authors: Hogarth, Penelope, Gregory, Allison, Kruer, Michael C, Sanford, Lynn, Wagoner, Wendy, Natowicz, Marvin R, Egel, Robert T, Subramony, S H, Goldman, Jennifer G, Berry-Kravis, Elizabeth, Foulds, Nicola C, Hammans, Simon R, Desguerre, Isabelle, Rodriguez, Diana, Wilson, Callum, Diedrich, Andrea, Green, Sarah, Tran, Huong, Reese, Lindsay, Woltjer, Randall L, Hayflick, Susan J
• Format: Journal Article
• Language: English
• Published: United States 15.01.2013
• Subjects: Adolescent; Adult; Brain Chemistry - genetics; Child; Child, Preschool; Cohort Studies; DNA - genetics; Dystonia - etiology; Electroencephalography; Electromyography; Fecal Incontinence - etiology; Female; Gait Disorders, Neurologic - etiology; Humans; Immunohistochemistry; Iron Overload - diagnostic imaging; Iron Overload - genetics; Iron Overload - pathology; Lewy Body Disease - pathology; Male; Mitochondrial Proteins - genetics; Mutation; Neurodegenerative Diseases - complications; Neurodegenerative Diseases - diagnostic imaging; Neurodegenerative Diseases - genetics; Neurodegenerative Diseases - pathology; Neurologic Examination; Phenotype; Radiography; Urinary Incontinence - etiology; Young Adult

To assess the frequency of mutations in C19orf12 in the greater neurodegeneration with brain iron accumulation (NBIA) population and further characterize the associated phenotype. Samples from 161 individuals with idiopathic NBIA were screened, and C19orf12 mutations were identified in 23 subjects....