Pantothenate kinase-associated neurodegeneration (PKAN) – a rare clinical entity

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Consensus clinical management guideline for pantothenate kinase-associated neurodegeneration (PKAN).

a Department of Molecular & Medical Genetics, Oregon Health & Science University, Portland, USA b Department of Neurology, Oregon Health & Science University, Portland, USA c Molecular Neurosciences, Developmental Neurosciences Programme, UCL Institute of Child Health, London, UK d Department of Physiatry, Children's Healthcare of Atlanta, GA, USA e Department of Child Neurology, The Children's...

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Pantothenate kinase-associated neurodegeneration

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Pantothenate 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...

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Pantothenate - 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...

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Efficacy of botulinum toxin A treatment in a case of pantothenate kinase associated neurodegeneration (PKAN).

1 of 1 DESCRIPTION Our patient is a girl with pantothenate kinase associated neurodegeneration 1 and autosomal recessive transmission. She has marked contractions of the lower facial muscles and severe contraction of calf muscles, with both feet in a crooked position, more evident on the right side. Since infancy, she walked abnormally and was unstable when standing, due to progressive hyperton...

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ژورنال

عنوان ژورنال: Acta Oto-Laryngologica Case Reports

سال: 2016

ISSN: 2377-2484

DOI: 10.1080/23772484.2016.1247649