نتایج جستجو برای: pank2

تعداد نتایج: 105  

Journal: :Movement disorders : official journal of the Movement Disorder Society 2009
Susanne A Schneider Kailash P Bhatia John Hardy

In addition to pure PD and pure dystonic syndromes, there are a group of disorders with overlapping features. The differential diagnosis of these dystonia parkinsonism syndromes can be complex. In view of the growing list of recognized disorders and recent advances in genetics, we review the autosomal recessive forms of dystonia parkinsonism, summarizing clinical presentations, results of inves...

Journal: :International Journal of Human Genetics 2022

Pantothenate kinase-associated neurodegeneration (PKAN), a rare neurological disorder occurs by variation(s) in the PANK2 (Pantothenate kinase 2) gene and is linked to iron accumulation basal ganglia. The researchers have carried out targeted sequencing of all exons patient with suspected phenotype PKAN. A missense variant exon 6 (NM_153638.3:c.1583C>T,NP_705902.2:p.Thr528Met) has been ident...

Journal: :Biomedical Journal of Scientific & Technical Research 2019

2015
Stephanie A. Shumar Paolo Fagone Adolfo Alfonso-Pecchio John T. Gray Jerold E. Rehg Suzanne Jackowski Roberta Leonardi Philipp J. Kahle

BACKGROUND Pantothenate kinase-associated neurodegeneration, PKAN, is an inherited disorder characterized by progressive impairment in motor coordination and caused by mutations in PANK2, a human gene that encodes one of four pantothenate kinase (PanK) isoforms. PanK initiates the synthesis of coenzyme A (CoA), an essential cofactor that plays a key role in energy metabolism and lipid synthesis...

Journal: :Human molecular genetics 2003
Konstanze Hörtnagel Holger Prokisch Thomas Meitinger

Mutations in the human PANK2 gene have been shown to occur in autosomal-recessive pantothenate kinase-associated neurodegeneration, a syndrome originally described by Hallervorden and Spatz. The kinase catalyses the first and rate-limiting step in the biosynthesis of coenzyme A, a key molecule in energy metabolism. We have determined the exon-intron structure of the hPANK2 gene and identified t...

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