open access
Mitochondrial protein associated neurodegeneration – Case report
Affiliations- 2nd Department of Neurology, Institute of Psychiatry and Neurology, Warsaw, Poland
- Department of Neurology and Epileptology, The Children's Memorial Health Institute, Warsaw, Poland
open access
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.
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.
Keywords
Mitochondrial protein associated neurodegeneration, Mitochondrial protein associated neurodegeneration (MPAN), Neurodegeneration with brain iron accumulation (NBIA), C19orf12
About this articleTitle
Mitochondrial protein associated neurodegeneration – Case report
Journal
Neurologia i Neurochirurgia Polska
Issue
Pages
81-84
Page views
204
Article views/downloads
366
DOI
10.1016/j.pjnns.2013.09.002
Bibliographic record
Neurol Neurochir Pol 2014;48(1):81-84.
Keywords
Mitochondrial protein associated neurodegeneration
Mitochondrial protein associated neurodegeneration (MPAN)
Neurodegeneration with brain iron accumulation (NBIA)
C19orf12
Authors
Bożena Kłysz
Marta Skowrońska
Tomasz Kmieć
