Journal
MOVEMENT DISORDERS
Volume 28, Issue 2, Pages 224-227Publisher
WILEY-BLACKWELL
DOI: 10.1002/mds.25256
Keywords
neurodegeneration with brain iron accumulation (NBIA); genetics; MRI; mitochondrial membrane protein-associated neurodegeneration (MPAN); C19orf12
Categories
Funding
- Neurologische Klinik & Poliklinik, Klinikum rechts der Isar, Technische Universitat Munchen, Munich, Germany
- Impulse and Networking Fund of the Helmholtz Association within the framework of the Helmholtz Alliance for Mental Health in an Ageing Society [HA-215]
- German Federal Ministry of Education and Research (BMBF)
- German Center for Diabetes Research (DZD e.V.) [SysMBo 0315494A]
- German Network for Mitochondrial Disorders [mitoNET 01GM0867]
- Technische Universitat Munchen (KKF)
Ask authors/readers for more resources
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. (c) 2012 Movement Disorder Society
Authors
I am an author on this paper
Click your name to claim this paper and add it to your profile.
Reviews
Recommended
No Data Available