Mitochondrial iron and energetic dysfunction distinguish fibroblasts and induced neurons from pantothenate kinase-associated neurodegeneration patients
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چکیده
منابع مشابه
Mitochondrial iron and energetic dysfunction distinguish fibroblasts and induced neurons from pantothenate kinase-associated neurodegeneration patients
Pantothenate kinase-associated neurodegeneration is an early onset autosomal recessive movement disorder caused by mutation of the pantothenate kinase-2 gene, which encodes a mitochondrial enzyme involved in coenzyme A synthesis. The disorder is characterised by high iron levels in the brain, although the pathological mechanism leading to this accumulation is unknown. To address this question, ...
متن کاملPantothenate kinase-associated neurodegeneration
9-years-old girl, previously healthy, presented with progressive dystonia. Clinically, she have dysarthria and spastic gait. Her parents are first-degree cousins. She have a paternal cousins who have a similar symptoms started 3 years ago, currently he is bed ridden. Notice: Authors are encouraged to submit quizzes for possible publication in the Journal. These may be in any field of Clinical N...
متن کاملPantothenate kinase-associated neurodegeneration
Disease summary: Pantothenate kinase-associated neurodegeneration (PKAN) is a rare autosomal recessive disorder that was first described by the neuropathologist Julius Hallervorden and the neurologist Hugo Spatz in 1922 [1]. The active involvement of Hallervorden in euthanasia in Germany during World War II and the discovery of the defective gene (mutation in pantothenate kinase 2 gene, located...
متن کاملPantothenate - kinase associated neurodegeneration.
Neurodegeneration with brain iron accumulation is a group of disorders, the commonest of which is PKAN (Pantothenate kinase associated neurodegeneration). We present here, a case of 18 year old boy with progressive dementia, pyramidal and extrapyramidal involvement, dysarthria, seizures and myoclonus. The patient was diagnosed as PKAN (formerly Hallervorden Spatz disease) after "eye of tiger" a...
متن کاملSkin fibroblasts from pantothenate kinase-associated neurodegeneration patients show altered cellular oxidative status and have defective iron-handling properties.
Pantothenate kinase-associated neurodegeneration (PKAN) is a neurodegenerative disease belonging to the group of neurodegeneration with brain iron accumulation disorders. It is characterized by progressive impairments in movement, speech and cognition. The disease is inherited in a recessive manner due to mutations in the Pantothenate Kinase-2 (PANK2) gene that encodes a mitochondrial protein i...
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ژورنال
عنوان ژورنال: Neurobiology of Disease
سال: 2015
ISSN: 0969-9961
DOI: 10.1016/j.nbd.2015.02.030