Secondary tauopathy in a genetic synucleinopathy, mitochondrial protein–associated neurodegeneration (MPAN)
نویسندگان
چکیده
منابع مشابه
"Eye of tiger sign" mimic in an adolescent boy with mitochondrial membrane protein associated neurodegeneration (MPAN).
Neurodegeneration with brain iron accumulation (NBIA) refers to an inherited heterogeneous group of disorders pathologically characterized by focal brain iron deposition. Clinical phenotype, imaging findings and genotype are variable among the different types of this disorder. In this case report, we describe the imaging finding of an adolescent boy with mitochondrial membrane protein associate...
متن کاملPantothenate kinase-associated neurodegeneration is not a synucleinopathy
AIMS Mutations in the pantothenate kinase 2 gene (PANK2) are responsible for the most common type of neurodegeneration with brain iron accumulation (NBIA), known as pantothenate kinase-associated neurodegeneration (PKAN). Historically, NBIA is considered a synucleinopathy with numerous reports of NBIA cases with Lewy bodies and Lewy neurites and some cases reporting additional abnormal tau accu...
متن کاملSecondary abnormalities of mitochondrial DNA associated with neurodegeneration.
The central nervous system has a particularly high energy requirement, thus making it very susceptible to defects in mitochondrial function. A number of neurodegenerative diseases, in particular Parkinson's disease (PD), Huntington's disease (HD) and Friedreich's ataxia (FRDA), are associated with mitochondrial dysfunction. The identification of a mitochondrial complex-I defect in PD provides a...
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The role of alpha-synuclein in pathogenesis of familial and idiopathic forms of Parkinson's disease, and other human disorders known as alpha-synucleinopathies, is well established. In contrast, the involvement of two other members of the synuclein family, beta-synuclein and gamma-synuclein, in the development and progression of neurodegeneration is poorly studied. However, there is a growing b...
متن کاملMitochondrial Dysfunction in Neurodegeneration
The mitochondrial respiratory chain (RC) is responsible for providing most of the cellular energy in the form of ATP, and is also one of the main sites of reactive oxygen species (ROS) formation. The RC, consisting of five enzyme complexes in the inner mitochondrial membrane, is unique in its bipartite dependence on both nuclear and mitochondrial DNA (mtDNA). One example of this is mitochondria...
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ژورنال
عنوان ژورنال: Alzheimer's & Dementia
سال: 2020
ISSN: 1552-5260,1552-5279
DOI: 10.1002/alz.046690