La malattia di Huntington: Una sfida per l'ospedale generale

Translated title of the contribution: Huntington disease: A challenge for the general hospital

M. Giuliana Cislaghi, Giuseppina Calabrese, Antonella Cheldi, Barbara Castellotti, Elena Lamperti, Carlo Novi

Research output: Contribution to journalArticle

Abstract

We present our experience about the management of adult patients with hereditary neurological disorders, particularly Huntington disease (HD) and we describe how they can be investigated in a neurological department of general hospital. HD is an autosomal dominant progressive and fatal neurodegenerative brain disorder caused by an expanded CAG/polyglutamine repeat in the coding region of the gene IT15. Between 1997 and 2001, 39 consecutive patients were examined for suspect of HD and 36 had DNA analysis (25 positive and 11 negative); 17 of them didn't have affected relatives (7 positive, 41.2%). A complete haematological battery, EEG, ECG, TC, RMN, IBZM-SPECT were also performed in all subjects; the genetic counseling was performed in 32 at risk subjects, but only 6 (18.7%) started iter for predictive test. In our experience, 55% of patients were observed during usual clinical activity (emergency care, general outpatients department), 30.6% we looked for them during pedigree screening and only 14.3% were admitted to our observation by their General Practitioners or other specialists. In conclusion, HD is the most common hereditary disorders seen by neurologists in adult patients and it is essential an effective collaboration between genetic and research Centres and general hospitals both to enlarge a number of studied cases and follow the patients.

Translated title of the contributionHuntington disease: A challenge for the general hospital
Original languageItalian
Pages (from-to)147-151
Number of pages5
JournalRivista di Neurobiologia
Volume47
Issue number3
Publication statusPublished - 2001

ASJC Scopus subject areas

  • Neuroscience(all)

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  • Cite this

    Cislaghi, M. G., Calabrese, G., Cheldi, A., Castellotti, B., Lamperti, E., & Novi, C. (2001). La malattia di Huntington: Una sfida per l'ospedale generale. Rivista di Neurobiologia, 47(3), 147-151.