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  • Title: Neuronal ceroid-lipofuscinoses in Italy: an epidemiological study.
    Author: Cardona F, Rosati E.
    Journal: Am J Med Genet; 1995 Jun 05; 57(2):142-3. PubMed ID: 7668318.
    Abstract:
    To establish the incidence of neuronal ceroid-lipofuscinoses (NCL) in Italy, we sent a questionnaire to all Neuropediatric and Child Neuropsychiatric Departments (answer rate 15/34 = 44%). Diagnoses were accepted only when based on firm clinical and/or electron microscopic criteria. We collected 58 cases born between 1966-1991 (2 infantile NCL, 37 late infantile NCL, and 19 juvenile NCL). The incidence was calculated only on patients born between 1974-1984. In this period, the incidence of overall NCL in the Italian population was calculated to be 0.56 per 100,000 live births (0.36 for late infantile NCL, and 0.20 for juvenile NCL). Our data show that infantile NCL is very rare in Italy, and that late infantile seems to be the most frequent form of NCL.
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