First cases in the Czech Republic of the Hallervorden-Spatz disease resulting from mutation in the pantothenate kinase 2 gene.
Hallervorden-Spatz disease (HSD) was and is known as a rare disorder primarily characterized by progressive extrapyramidal dysfunction and dementia alongside optic nerve atrophy or retinal degeneration and pyramidal signs. The rate of occurence of HSD is thus far unknown. Progress in DNA diagnostics stirred up a nomenclature and from HSD, or, perhaps better put, the Hallervorden-Spatz syndrome, crystallized the pantothenate kinase-associated neurodegeneration (PKAN) as a clearly defined entity on the level of DNA. In this paper, we present our first results and experience in the diagnosis of PKAN in the Czech Republic and discuss questions related to differential diagnosis.
Zumrová
Alena
A
Neurogenetic Centre, 2nd Faculty of Medicine of Charles University and Faculty Hospital Motol, Prague, Czech Republic. alena.zumrova@lfmotol.cuni.cz
Krepelová
Anna
A
Kyncl
Martin
M
Maríková
Tatána
T
Prosková
Miluse
M
Cíbochová
Renáta
R
Sebronová
Vera
V
Komárek
Vladimír
V
D000293:Adolescent; D000328:Adult; D001479:Basal Ganglia / Q000473:pathology*; D002114:Calcinosis / Q000235:genetics / Q000473:pathology; D002648:Child; D002675:Child, Preschool; D018153:Czech Republic; D003937:Diagnosis, Differential; D020820:Dyskinesias / Q000235:genetics / Q000473:pathology; D005192:Family Health; D005260:Female; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D009154:Mutation; D006211:Pantothenate Kinase-Associated Neurodegeneration / Q000235:genetics* / Q000473:pathology*; D017853:Phosphotransferases (Alcohol Group Acceptor) / Q000235:genetics*
D017853:Phosphotransferases (Alcohol Group Acceptor); C023088:pantothenate kinase