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Mitochondrial membrane protein associated neurodegenration

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Mitochondrial membrane protein associated neurodegenration : a novel variant of neurodegeneration with brain iron accumulation. / Schulte, Eva C; Claussen, Malte C; Jochim, Angela; Haack, Tobias; Hartig, Monika; Hempel, Maja; Prokisch, Holger; Haun-Jünger, Ursula; Winkelmann, Juliane; Hemmer, Bernhard; Förschler, Annette; Ilg, Rüdiger.

In: MOVEMENT DISORD, Vol. 28, No. 2, 02.2013, p. 224-7.

Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

Harvard

Schulte, EC, Claussen, MC, Jochim, A, Haack, T, Hartig, M, Hempel, M, Prokisch, H, Haun-Jünger, U, Winkelmann, J, Hemmer, B, Förschler, A & Ilg, R 2013, 'Mitochondrial membrane protein associated neurodegenration: a novel variant of neurodegeneration with brain iron accumulation', MOVEMENT DISORD, vol. 28, no. 2, pp. 224-7. https://doi.org/10.1002/mds.25256

APA

Schulte, E. C., Claussen, M. C., Jochim, A., Haack, T., Hartig, M., Hempel, M., Prokisch, H., Haun-Jünger, U., Winkelmann, J., Hemmer, B., Förschler, A., & Ilg, R. (2013). Mitochondrial membrane protein associated neurodegenration: a novel variant of neurodegeneration with brain iron accumulation. MOVEMENT DISORD, 28(2), 224-7. https://doi.org/10.1002/mds.25256

Vancouver

Schulte EC, Claussen MC, Jochim A, Haack T, Hartig M, Hempel M et al. Mitochondrial membrane protein associated neurodegenration: a novel variant of neurodegeneration with brain iron accumulation. MOVEMENT DISORD. 2013 Feb;28(2):224-7. https://doi.org/10.1002/mds.25256

Bibtex

@article{46956615db694747885546bf3eed6fd2,
title = "Mitochondrial membrane protein associated neurodegenration: a novel variant of neurodegeneration with brain iron accumulation",
abstract = "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.",
keywords = "Adolescent, Adult, Age of Onset, Atrophy, Brain, Brain Chemistry, Child, Female, Gait Disorders, Neurologic, Globus Pallidus, Humans, Iron, Magnetic Resonance Imaging, Male, Mitochondrial Membrane Transport Proteins, Motor Neuron Disease, Movement Disorders, Neurodegenerative Diseases, Optic Nerve Diseases, Pantothenate Kinase-Associated Neurodegeneration, Pedigree, Phenotype, Substantia Nigra, Young Adult",
author = "Schulte, {Eva C} and Claussen, {Malte C} and Angela Jochim and Tobias Haack and Monika Hartig and Maja Hempel and Holger Prokisch and Ursula Haun-J{\"u}nger and Juliane Winkelmann and Bernhard Hemmer and Annette F{\"o}rschler and R{\"u}diger Ilg",
note = "Copyright {\textcopyright} 2012 Movement Disorders Society.",
year = "2013",
month = feb,
doi = "10.1002/mds.25256",
language = "English",
volume = "28",
pages = "224--7",
journal = "MOVEMENT DISORD",
issn = "0885-3185",
publisher = "John Wiley and Sons Inc.",
number = "2",

}

RIS

TY - JOUR

T1 - Mitochondrial membrane protein associated neurodegenration

T2 - a novel variant of neurodegeneration with brain iron accumulation

AU - Schulte, Eva C

AU - Claussen, Malte C

AU - Jochim, Angela

AU - Haack, Tobias

AU - Hartig, Monika

AU - Hempel, Maja

AU - Prokisch, Holger

AU - Haun-Jünger, Ursula

AU - Winkelmann, Juliane

AU - Hemmer, Bernhard

AU - Förschler, Annette

AU - Ilg, Rüdiger

N1 - Copyright © 2012 Movement Disorders Society.

PY - 2013/2

Y1 - 2013/2

N2 - 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.

AB - 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.

KW - Adolescent

KW - Adult

KW - Age of Onset

KW - Atrophy

KW - Brain

KW - Brain Chemistry

KW - Child

KW - Female

KW - Gait Disorders, Neurologic

KW - Globus Pallidus

KW - Humans

KW - Iron

KW - Magnetic Resonance Imaging

KW - Male

KW - Mitochondrial Membrane Transport Proteins

KW - Motor Neuron Disease

KW - Movement Disorders

KW - Neurodegenerative Diseases

KW - Optic Nerve Diseases

KW - Pantothenate Kinase-Associated Neurodegeneration

KW - Pedigree

KW - Phenotype

KW - Substantia Nigra

KW - Young Adult

U2 - 10.1002/mds.25256

DO - 10.1002/mds.25256

M3 - SCORING: Journal article

C2 - 23436634

VL - 28

SP - 224

EP - 227

JO - MOVEMENT DISORD

JF - MOVEMENT DISORD

SN - 0885-3185

IS - 2

ER -