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Pregled bibliografske jedinice broj: 138163

Huntington's disease, case report


Ivkošić, Ante; Titlić, Marina; Tadić, Tade; Erceg, Ivana; Marović, Anton; Primorac, Dragan
Huntington's disease, case report // Neurologia i Neurochirurgia Polska, 37 (2003), 1; 235-241 (podatak o recenziji nije dostupan, članak, stručni)


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

Časopis indeksira:


  • Scopus
  • MEDLINE


Uključenost u ostale bibliografske baze podataka:


  • MEDLINE