title: The diverse phenotype and genotype of pantothenate kinase-associated neurodegeneration.
abstract: Pantothenate kinase-associated neurodegeneration (PKAN) is a rare autosomal-recessive disorder caused by mutations in the PANK2 gene. The authors report clinical and genetic findings of 16 patients with PKAN. The authors identified 12 mutations in the PANK2 gene, five of which were new. Only nine patients could be classified as classic or atypical PKAN, and intermediate phenotypes are described. Two patients presented with motor tics and obsessive-compulsive behavior suggestive of Tourette syndrome.
authors.affiliation: Department of Neurological Sciences, University Federico II, Naples, Italy. pellec3@hotmail.com
authors.forename: M T
authors.initials: MT
authors.lastname: Pellecchia
authors.forename: E M
authors.initials: EM
authors.lastname: Valente
authors.forename: L
authors.initials: L
authors.lastname: Cif
authors.forename: S
authors.initials: S
authors.lastname: Salvi
authors.forename: A
authors.initials: A
authors.lastname: Albanese
authors.forename: V
authors.initials: V
authors.lastname: Scarano
authors.forename: U
authors.initials: U
authors.lastname: Bonuccelli
authors.forename: A R
authors.initials: AR
authors.lastname: Bentivoglio
authors.forename: A
authors.initials: A
authors.lastname: D'Amico
authors.forename: C
authors.initials: C
authors.lastname: Marelli
authors.forename: A
authors.initials: A
authors.lastname: Di Giorgio
authors.forename: P
authors.initials: P
authors.lastname: Coubes
authors.forename: P
authors.initials: P
authors.lastname: Barone
authors.forename: B
authors.initials: B
authors.lastname: Dallapiccola
mesh_terms: D000293:Adolescent; D000328:Adult; D020739:Brain Diseases, Metabolic, Inborn / Q000201:enzymology / Q000235:genetics* / Q000503:physiopathology; D002648:Child; D003065:Coenzyme A / Q000096:biosynthesis; D004252:DNA Mutational Analysis; D005260:Female; D005820:Genetic Testing; D005917:Globus Pallidus / Q000378:metabolism / Q000473:pathology / Q000503:physiopathology; D020271:Heredodegenerative Disorders, Nervous System / Q000201:enzymology / Q000235:genetics* / Q000503:physiopathology; D006801:Humans; D007501:Iron / Q000378:metabolism; D019189:Iron Metabolism Disorders / Q000201:enzymology / Q000235:genetics / Q000503:physiopathology; D008297:Male; D001523:Mental Disorders / Q000201:enzymology / Q000235:genetics / Q000503:physiopathology; D008875:Middle Aged; D009154:Mutation / Q000235:genetics*; D009771:Obsessive-Compulsive Disorder / Q000201:enzymology / Q000235:genetics / Q000503:physiopathology; D006211:Pantothenate Kinase-Associated Neurodegeneration / Q000201:enzymology / Q000235:genetics* / Q000503:physiopathology; D010641:Phenotype; D017853:Phosphotransferases (Alcohol Group Acceptor) / Q000235:genetics*; D011712:Pyramidal Tracts / Q000503:physiopathology; D020323:Tics / Q000201:enzymology / Q000235:genetics / Q000503:physiopathology
chemical_list: D007501:Iron; D017853:Phosphotransferases (Alcohol Group Acceptor); C023088:pantothenate kinase; D003065:Coenzyme A