Hallervorden Spatz syndrome (pantothenate kinase associated neurodegeneration) in two Sardinian brother with homozygous mutation in PANK 2 gene.
Cossu
Giovanni
G
Melis
Maurizio
M
Floris
Gianluca
G
Hayflick
Susan J
SJ
Spissu
Andrea
A
D000328:Adult; D003987:Dibenzothiazepines / Q000627:therapeutic use; D005260:Female; D005917:Globus Pallidus / Q000473:pathology*; D006720:Homozygote; D006801:Humans; D007558:Italy; D007980:Levodopa / Q000627:therapeutic use; D008279:Magnetic Resonance Imaging; D008297:Male; D020125:Mutation, Missense / Q000235:genetics*; D006211:Pantothenate Kinase-Associated Neurodegeneration / Q000188:drug therapy / Q000235:genetics* / Q000473:pathology; D017853:Phosphotransferases (Alcohol Group Acceptor) / Q000235:genetics*; D000069348:Quetiapine Fumarate
D003987:Dibenzothiazepines; D000069348:Quetiapine Fumarate; D007980:Levodopa; D017853:Phosphotransferases (Alcohol Group Acceptor); C023088:pantothenate kinase