Natural history and genotype‐phenotype correlation of pantothenate kinase‐associated neurodegeneration
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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 کاملPantothenate kinase associated neurodegeneration (Hallervorden-Spatz syndrome).
Hallervorden-Spatz syndrome is a rare autosomal recessive hereditary condition characterized by early onset of progressive movement alteration that include dystonia, rigidity and choreoathetosis usually associated with pyramidal signs and mental deterioration. We report two sisters where diagnosis was missed till MRI showed classic imaging findings. Mutation analysis in one, revealed homozygous...
متن کاملLate Onset Atypical Pantothenate-Kinase-Associated Neurodegeneration
Introduction. Pantothenate-kinase-associated neurodegeneration (PKAN) is a rare genetic disease and a form of neurodegeneration with brain iron accumulation (NBIA). It most commonly begins in the first two decades of life but should be considered in the differential diagnosis of patients at any age with an atypical progressive extrapyramidal disorder and cognitive impairment. Few late-adult cas...
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ژورنال
عنوان ژورنال: CNS Neuroscience & Therapeutics
سال: 2020
ISSN: 1755-5930,1755-5949
DOI: 10.1111/cns.13294