Mitochondrial membrane protein associated neurodegenration: a novel variant of neurodegeneration with brain iron accumulation.
Identifieur interne : 000910 ( Main/Curation ); précédent : 000909; suivant : 000911Mitochondrial membrane protein associated neurodegenration: a novel variant of neurodegeneration with brain iron accumulation.
Auteurs : Eva C. Schulte [Allemagne] ; Malte C. Claussen ; Angela Jochim ; Tobias Haack ; Monika Hartig ; Maja Hempel ; Holger Prokisch ; Ursula Haun-Jünger ; Juliane Winkelmann ; Bernhard Hemmer ; Annette Förschler ; Rüdiger IlgSource :
- Movement disorders : official journal of the Movement Disorder Society [ 1531-8257 ] ; 2013.
English descriptors
- KwdEn :
- Adolescent, Adult, Age of Onset, Atrophy, Brain (pathology), Brain Chemistry (genetics), Child, Female, Gait Disorders, Neurologic (etiology), Gait Disorders, Neurologic (physiopathology), Globus Pallidus (pathology), Humans, Iron (metabolism), Magnetic Resonance Imaging, Male, Mitochondrial Membrane Transport Proteins (genetics), Motor Neuron Disease (genetics), Motor Neuron Disease (pathology), Movement Disorders (etiology), Movement Disorders (physiopathology), Neurodegenerative Diseases (genetics), Neurodegenerative Diseases (physiopathology), Optic Nerve Diseases (genetics), Optic Nerve Diseases (pathology), Pantothenate Kinase-Associated Neurodegeneration (genetics), Pantothenate Kinase-Associated Neurodegeneration (physiopathology), Pedigree, Phenotype, Substantia Nigra (pathology), Young Adult.
- MESH :
- chemical , genetics : Mitochondrial Membrane Transport Proteins.
- chemical , metabolism : Iron.
- etiology : Gait Disorders, Neurologic, Movement Disorders.
- genetics : Brain Chemistry, Motor Neuron Disease, Neurodegenerative Diseases, Optic Nerve Diseases, Pantothenate Kinase-Associated Neurodegeneration.
- pathology : Brain, Globus Pallidus, Motor Neuron Disease, Optic Nerve Diseases, Substantia Nigra.
- physiopathology : Gait Disorders, Neurologic, Movement Disorders, Neurodegenerative Diseases, Pantothenate Kinase-Associated Neurodegeneration.
- Adolescent, Adult, Age of Onset, Atrophy, Child, Female, Humans, Magnetic Resonance Imaging, Male, Pedigree, Phenotype, Young Adult.
Abstract
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).
DOI: 10.1002/mds.25256
PubMed: 23436634
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pubmed:23436634Le document en format XML
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<term>Brain Chemistry (genetics)</term>
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<term>Gait Disorders, Neurologic (physiopathology)</term>
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<front><div type="abstract" xml:lang="en">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).</div>
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