意大利的神经元蜡样脂褐质沉积症：一项流行病学研究。

Neuronal ceroid-lipofuscinoses in Italy: an epidemiological study.

作者信息

Cardona F, Rosati E

机构信息

Department of Child Neuropsychiatry, University of Rome, La Sapienza, Italy.

出版信息

Am J Med Genet. 1995 Jun 5;57(2):142-3. doi: 10.1002/ajmg.1320570206.

DOI:10.1002/ajmg.1320570206

PMID: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.

摘要

为确定意大利神经元蜡样脂褐质沉积症（NCL）的发病率，我们向所有神经儿科和儿童神经精神科发送了调查问卷（回复率为15/34 = 44%）。仅当诊断基于确切的临床和/或电子显微镜标准时才被接受。我们收集了1966年至1991年间出生的58例病例（2例婴儿型NCL、37例晚期婴儿型NCL和19例青少年型NCL）。发病率仅根据1974年至1984年间出生的患者计算。在此期间，意大利人群中NCL的总体发病率经计算为每100,000例活产中有0.56例（晚期婴儿型NCL为0.36例，青少年型NCL为0.20例）。我们的数据表明，婴儿型NCL在意大利非常罕见，而晚期婴儿型似乎是NCL最常见的形式。