Naslov
Huntington's disease, case report

Autori
Ivkošić, Ante ; Titlić, Marina ; Tadić, Tade ; Erceg, Ivana ; Marović, Anton ; Primorac, Dragan

Izvornik
Neurologia i Neurochirurgia Polska (0028-3843) 37 (2003), 1; 235-241

Vrsta, podvrsta i kategorija rada
Radovi u časopisima, članak, stručni

Ključne riječi
Huntington's disease

Sažetak
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.

Izvorni jezik
Engleski

Znanstvena područja
Temeljne medicinske znanosti

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