Reply: IREB2-associated neurodegeneration

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...

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...

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...

A Novel Nonsense mutation in PANK2 Gene in Two Patients with Pantothenate Kinase-Associated Neurodegeneration

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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