Huntington's disease, case report.
Huntington's disease (HD) is a chronic neurodegenerative disorder, characterized by the following triad of clinical hallmarks: chorea, cognitive impairment and behavior disorders [8]. In 1993 the gene responsible for HD, whose mutation results in HD, was identified and mapped on the chromosome 4p16.3 [6]. The mutation is a characteristic expansion of a CAG nucleotide triplet. In this paper we present a 36-years-old female patient with HD who was submitted to a complete diagnostic procedure including genetic testing. Her pedigree was reconstructed using available medical documentation and tracing other members of her family.
Ivkosic
Ante
A
Split University Hospital, Laboratory for Clinical and Forensic Genetics.
Titlic
Marina
M
Tadic
Tade
T
Erceg
Ivana
I
Marovic
Anton
A
Primorac
Dragan
D
D000328:Adult; D001284:Atrophy / Q000473:pathology; D001921:Brain / Q000473:pathology; D002421:Caudate Nucleus / Q000473:pathology; D005260:Female; D006801:Humans; D006816:Huntington Disease / Q000175:diagnosis* / Q000235:genetics; D008279:Magnetic Resonance Imaging; D010375:Pedigree; D019680:Trinucleotide Repeat Expansion / Q000235:genetics