Cognitive functioning in children with pantothenate-kinase-associated neurodegeneration undergoing deep brain stimulation
نویسندگان
چکیده
منابع مشابه
Deep Brain Stimulation for Pantothenate Kinase-Associated Neurodegeneration
Pantothenate kinase-associated neurodegeneration (PKAN) is usually associated with dystonia, which is typically severe and progressive over time. Pallidal stimulation (GPi DBS) has been carried out in selected cases of PKAN with drug-resistant dystonia with variable results. We report a 30-month follow-up study of a 30-year-old woman with PKAN-related dystonia treated with GPi DBS. Postoperativ...
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Pantothenatekinase-associated neurodegeneration is a rare progressive disorder characterized by dystonia, rigidity, choreoathetosis and mental deterioration. Patients requiring general anesthesia with this syndrome may have many anesthesia-relevant symptoms that influence the preanesthetic management, the induction of anesthesia and the postoperative care. In this case report, we present the an...
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Pantothenate kinase- associated neurodegeneration (PKAN) syndrome is a rare autosomal recessive disorder characterized by progressive extrapyramidal dysfunction and iron accumulation in the brain and axonal spheroids in the central nervous system. It has been shown that the disorder is caused by mutations in PANK2 gene which codes for a mitochondrial enzyme participating in coenzyme A biosynthe...
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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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ژورنال
عنوان ژورنال: Developmental Medicine & Child Neurology
سال: 2010
ISSN: 0012-1622
DOI: 10.1111/j.1469-8749.2010.03815.x