Mitochondrial membrane protein associated neurodegenration: A novel variant of neurodegeneration with brain iron accumulation

2012 ◽  
Vol 28 (2) ◽  
pp. 224-227 ◽  
Author(s):  
Eva C. Schulte ◽  
Malte C. Claussen ◽  
Angela Jochim ◽  
Tobias Haack ◽  
Monika Hartig ◽  
...  
Keyword(s):  
Membrane Protein ◽  
Mitochondrial Membrane ◽  
Iron Accumulation ◽  
Brain Iron ◽  
Novel Variant ◽  
Mitochondrial Membrane Protein

scholarly journals Late‐Onset Mitochondrial Membrane Protein–Associated Neurodegeneration With Extensive Brain Iron Deposition

2019 ◽  
Vol 7 (1) ◽  
pp. 120-121 ◽  
Author(s):  
Afagh Alavi ◽  
Mahisa Mokhtari ◽  
Reza Hajati ◽  
Atefeh Davarzani ◽  
Alfonso Fasano ◽  
...  
Keyword(s):  
Membrane Protein ◽  
Mitochondrial Membrane ◽  
Late Onset ◽  
Iron Deposition ◽  
Brain Iron ◽  
Mitochondrial Membrane Protein ◽  
Brain Iron Deposition

scholarly journals Brain iron quantification by MRI in mitochondrial membrane protein-associated neurodegeneration under iron-chelating therapy

2014 ◽  
Vol 1 (12) ◽  
pp. 1041-1046 ◽  
Author(s):  
Ulrike Löbel ◽  
Ferdinand Schweser ◽  
Miriam Nickel ◽  
Andreas Deistung ◽  
Regine Grosse ◽  
...  
Keyword(s):  
Membrane Protein ◽  
Mitochondrial Membrane ◽  
Brain Iron ◽  
Iron Quantification ◽  
Mitochondrial Membrane Protein ◽  
Chelating Therapy

scholarly journals Brain Iron and Metabolic Abnormalities in C19orf12 Mutation Carriers: A 7.0 Tesla MRI Study in Mitochondrial Membrane Protein–Associated Neurodegeneration

2019 ◽  
Vol 35 (1) ◽  
pp. 142-150 ◽  
Author(s):  
Petr Dusek ◽  
Ralf Mekle ◽  
Marta Skowronska ◽  
Julio Acosta‐Cabronero ◽  
Till Huelnhagen ◽  
...  
Keyword(s):  
Membrane Protein ◽  
Mitochondrial Membrane ◽  
Metabolic Abnormalities ◽  
Brain Iron ◽  
Mutation Carriers ◽  
Mri Study ◽  
Mitochondrial Membrane Protein

scholarly journals A diagnostic approach for neurodegeneration with brain iron accumulation: clinical features, genetics and brain imaging

2016 ◽  
Vol 74 (7) ◽  
pp. 587-596 ◽  
Author(s):  
Rubens Paulo Araújo Salomão ◽  
José Luiz Pedroso ◽  
Maria Thereza Drumond Gama ◽  
Lívia Almeida Dutra ◽  
Ricardo Horta Maciel ◽  
...  
Keyword(s):  
Brain Imaging ◽  
Clinical Features ◽  
Mitochondrial Membrane ◽  
Iron Accumulation ◽  
Diagnostic Approach ◽  
Imaging Findings ◽  
Brain Iron ◽  
Genetic Etiology ◽  
Fatty Acid Hydroxylase ◽  
Mitochondrial Membrane Protein

ABSTRACT Neurodegeneration with brain iron accumulation (NBIA) represents a heterogeneous and complex group of inherited neurodegenerative diseases, characterized by excessive iron accumulation, particularly in the basal ganglia. Common clinical features of NBIA include movement disorders, particularly parkinsonism and dystonia, cognitive dysfunction, pyramidal signs, and retinal abnormalities. The forms of NBIA described to date include pantothenase kinase-associated neurodegeneration (PKAN), phospholipase A2 associated neurodegeneration (PLAN), neuroferritinopathy, aceruloplasminemia, beta-propeller protein-associated neurodegeneration (BPAN), Kufor-Rakeb syndrome, mitochondrial membrane protein-associated neurodegeneration (MPAN), fatty acid hydroxylase-associated neurodegeneration (FAHN), coenzyme A synthase protein-associated neurodegeneration (CoPAN) and Woodhouse-Sakati syndrome. This review is a diagnostic approach for NBIA cases, from clinical features and brain imaging findings to the genetic etiology.

scholarly journals Levodopa-induced dyskinesias in mitochondrial membrane protein–associated neurodegeneration

2018 ◽  
Vol 9 (1) ◽  
pp. e7-e9 ◽  
Author(s):  
Daniel Savitt ◽  
Joseph Jankovic
Keyword(s):  
Membrane Protein ◽  
Mitochondrial Membrane ◽  
Mitochondrial Membrane Protein

scholarly journals Genetic analysis of dTSPO , an outer mitochondrial membrane protein, reveals its functions in apoptosis, longevity, and Aβ42‐induced neurodegeneration

Aging Cell ◽  
2014 ◽  
Vol 13 (3) ◽  
pp. 507-518 ◽  
Author(s):  
Ran Lin ◽  
Alessia Angelin ◽  
Federico Da Settimo ◽  
Claudia Martini ◽  
Sabrina Taliani ◽  
...  
Keyword(s):  
Membrane Protein ◽  
Genetic Analysis ◽  
Mitochondrial Membrane ◽  
Outer Mitochondrial Membrane ◽  
Mitochondrial Membrane Protein
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