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Hartig, M.* ; Prokisch, H. ; Meitinger, T. ; Klopstock, T.*

Mitochondrial Membrane Protein-Associated Neurodegeneration (MPAN).

Int. Rev. Neurobiol. 110, 73-84 (2013)
DOI PMC
Open Access Green möglich sobald Postprint bei der ZB eingereicht worden ist.
Neurodegeneration with brain iron accumulation (NBIA) is a group of rare and devastating disorders characterized by iron deposition in the brain. Mutations in C19orf12 cause autosomal recessive inherited mitochondrial membrane protein-associated neurodegeneration (MPAN), which may account for up to 30% of NBIA cases. The C19orf12 gene product is an orphan mitochondrial membrane protein, and most mutations are predicted to cause loss of function. From 67 MPAN cases so far reported, we describe here the clinical, radiological, and genetic features. Key clinical features are pyramidal and extrapyramidal signs, cognitive decline, neuropsychiatric abnormalities, optic atrophy, and motor axonal neuropathy. Magnetic resonance imaging shows the eponymous brain iron accumulation in globus pallidus and substantia nigra and in some cases a hyperintense streaking of the medial medullary lamina. The latter sign may discriminate MPAN from other NBIA subtypes. In two postmortem MPAN cases, neuropathology showed axonal spheroids, Lewy bodies, and hyperphosphorylated tau-containing inclusions.
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Publikationstyp Artikel: Journalartikel
Dokumenttyp Wissenschaftlicher Artikel
Korrespondenzautor
Schlagwörter C19orf12 Gene ; Extrapyramidal Signs ; Globus Pallidus ; Mitochondrial Membrane Protein-associated Neurodegeneration (mpan) ; Motor Axonal Neuropathy ; Neurodegeneration With Brain Iron Accumulation (nbia) ; Optic Atrophy ; Pyramidal Signs ; Substantia Nigra; Brain Iron Accumulation; Hallervorden-spatz-syndrome; Mutations; C19orf12; Pank2; Nbia; Features; Distinct; Subtype; Form
ISSN (print) / ISBN 0074-7742
Zeitschrift International Review of Neurobiology
Quellenangaben Band: 110, Heft: , Seiten: 73-84 Artikelnummer: , Supplement: ,
Verlag Elsevier
Nichtpatentliteratur Publikationen
Begutachtungsstatus Peer reviewed
Institut(e) Institute of Human Genetics (IHG)