open access

Vol 48, No 1 (2014)
Case reports
Submitted: 2013-05-25
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Mitochondrial protein associated neurodegeneration – Case report

Bożena Kłysz, Marta Skowrońska, Tomasz Kmieć
DOI: 10.1016/j.pjnns.2013.09.002
·
Neurol Neurochir Pol 2014;48(1):81-84.

open access

Vol 48, No 1 (2014)
Case reports
Submitted: 2013-05-25

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.

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Keywords

Mitochondrial protein associated neurodegeneration, Mitochondrial protein associated neurodegeneration (MPAN), Neurodegeneration with brain iron accumulation (NBIA), C19orf12

About this article
Title

Mitochondrial protein associated neurodegeneration – Case report

Journal

Neurologia i Neurochirurgia Polska

Issue

Vol 48, No 1 (2014)

Pages

81-84

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

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