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Open Access Green as soon as Postprint is submitted to ZB.
Mitochondrial membrane protein associated neurodegeneration: A novel variant of neurodegeneration with brain iron accumulation.
Mov. Disord. 28, 224-227 (2013)
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). Methods/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.
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Publication type
Article: Journal article
Document type
Scientific Article
Keywords
Neurodegeneration With Brain Iron Accumulation (nbia) ; Genetics ; Mri ; Mitochondrial Membrane Protein-associated Neurodegeneration (mpan) ; C19orf12; Hallervorden-spatz-syndrome ; Dystonia ; Pank2
ISSN (print) / ISBN
0885-3185
e-ISSN
1531-8257
Journal
Movement Disorders
Quellenangaben
Volume: 28,
Issue: 2,
Pages: 224-227
Publisher
Wiley
Non-patent literature
Publications
Reviewing status
Peer reviewed
Institute(s)
Institute of Human Genetics (IHG)