The diverse phenotype and genotype of pantothenate kinase-associated neurodegeneration.
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.
Pellecchia
M T
MT
Department of Neurological Sciences, University Federico II, Naples, Italy. pellec3@hotmail.com
Valente
E M
EM
Cif
L
L
Salvi
S
S
Albanese
A
A
Scarano
V
V
Bonuccelli
U
U
Bentivoglio
A R
AR
D'Amico
A
A
Marelli
C
C
Di Giorgio
A
A
Coubes
P
P
Barone
P
P
Dallapiccola
B
B
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
D007501:Iron; D017853:Phosphotransferases (Alcohol Group Acceptor); C023088:pantothenate kinase; D003065:Coenzyme A