The synthesis of minds and molecules leads to potential therapy for pantothenate kinase-associated neurodegeneration
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چکیده
منابع مشابه
The synthesis of minds and molecules leads to potential therapy for pantothenate kinase-associated neurodegeneration.
deprived ferrets. Eur J Neurosci 1999; 11: 3945–56. Korte M, Rauschecker JP. Auditory spatial tuning of cortical neurons is sharpened in cats with early blindness. J Neurophysiol 1993; 70: 1717–21. Lewald J. Vertical sound localization in blind humans. Neuropsychologia 2002; 40: 1868–72. Lewald J. More accurate sound localization induced by short-term light deprivation. Neuropsychologia 2007; 4...
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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...
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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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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...
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ژورنال
عنوان ژورنال: Brain
سال: 2014
ISSN: 1460-2156,0006-8950
DOI: 10.1093/brain/awt351