Fosmetpantotenate Randomized Controlled Trial in Pantothenate Kinase–Associated Neurodegeneration
نویسندگان
چکیده
منابع مشابه
Pantothenate 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 کاملFosmetpantotenate (RE-024), a phosphopantothenate replacement therapy for pantothenate kinase-associated neurodegeneration: Mechanism of action and efficacy in nonclinical models
In cells, phosphorylation of pantothenic acid to generate phosphopantothenic acid by the pantothenate kinase enzymes is the first step in coenzyme A synthesis. Pantothenate kinase 2, the isoform localized in neuronal cell mitochondria, is dysfunctional in patients with pantothenate kinase-associated neurodegeneration. Fosmetpantotenate is a phosphopantothenic acid prodrug in clinical developmen...
متن کاملPantothenate Kinase Associated Neurodegeneration in Two Brothers.
1. Clinic 3D Diagnóstico por Imagem. Hospital Casa de Portugal. Rio de Janeiro. Brasil. 2. Department of Radiology. Hospital Casa de Portugal. Rio de Janeiro. Brasil. 3. Universidade do Grande Rio. Rio de Janeiro. Brasil. Autor correspondente: Bruno Niemeyer de Freitas Ribeiro. [email protected]. Recebido: 22 de Dezembro de 2014 Aceite: 15 de Março de 2015 | Copyright © Ordem dos Méd...
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ژورنال
عنوان ژورنال: Movement Disorders
سال: 2020
ISSN: 0885-3185,1531-8257
DOI: 10.1002/mds.28392