To establish the incidence of neuronal cerio-lipofuscinoses (NCL) in Italy, we sent a questionnaire to all Neuropediatric and Chil 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 birds (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.
Neuronal ceroid-lipofuscinoses in Italy: an epidemiological study / Cardona, Francesco Carmelo Giovanni; Rosati, E.. - In: AMERICAN JOURNAL OF MEDICAL GENETICS. - ISSN 0148-7299. - STAMPA. - 57:(1995), pp. 142-143. [10.1002/ajmg.1320570206]
Neuronal ceroid-lipofuscinoses in Italy: an epidemiological study.
CARDONA, Francesco Carmelo Giovanni
Primo
Conceptualization
;
1995
Abstract
To establish the incidence of neuronal cerio-lipofuscinoses (NCL) in Italy, we sent a questionnaire to all Neuropediatric and Chil 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 birds (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.I documenti in IRIS sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.
