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...

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Published inNeuro-endocrinology letters Vol. 26; no. 3; p. 213
Main Authors Zumrová, Alena, Krepelová, Anna, Kyncl, Martin, Maríková, Tatána, Prosková, Miluse, Cíbochová, Renáta, Sebronová, Vera, Komárek, Vladimír
Format Journal Article
LanguageEnglish
Published Sweden 01.06.2005
Subjects
Adolescent
Adult
Basal Ganglia - pathology
Calcinosis - genetics
Calcinosis - pathology
Child
Child, Preschool
Czech Republic
Diagnosis, Differential
Dyskinesias - genetics
Dyskinesias - pathology
Family Health
Female
Humans
Magnetic Resonance Imaging
Male
Mutation
Pantothenate Kinase-Associated Neurodegeneration - genetics
Pantothenate Kinase-Associated Neurodegeneration - pathology
Phosphotransferases (Alcohol Group Acceptor) - genetics
Czech Republic
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Summary: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.
ISSN:0172-780X