Huntington's disease, case report.

Ante Ivkosic, Marina Titlic, Tade Tadic, Ivana Erceg, Anton Marovic, Dragan Primorac

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Abstract

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.

Original languageEnglish (US)
Pages (from-to)235-241
Number of pages7
JournalNeurologia i Neurochirurgia Polska
Volume37
Issue number1
StatePublished - Jan 1 2003

All Science Journal Classification (ASJC) codes

  • Surgery
  • Clinical Neurology

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    Ivkosic, A., Titlic, M., Tadic, T., Erceg, I., Marovic, A., & Primorac, D. (2003). Huntington's disease, case report. Neurologia i Neurochirurgia Polska, 37(1), 235-241.