{"title":"神经元类神经脂褐细胞病综述从先天性到学龄前儿童的表型","authors":"M. Shimono, A. Senju","doi":"10.4172/2161-0460.1000316","DOIUrl":null,"url":null,"abstract":"The classification of neuronal ceroid lipofuscinoses (NCLs) had been clinically divided according to the age at the onset of symptoms: infantile, late infantile, juvenile and adult NCLs. However, this classification cannot always predict the causative gene; i.e., CLN1, for example, causes not only infantile NCL but also late onset infantile and adult NCLs. In 2012, a new classification for the NCLs that takes into account recent genetic and biochemical advances. This short review commentary focuses on the NCLs which might cause symptoms in children from neonate to preschooler age: CLN10 (neonatal), CLN1 (6-48 months), CLN14 (8-24 months), CLN2 (1-6 years), CLN3 (4-7 years), CLN5 (4-6 years), CLN6 (18 months-8 years), CLN7 (2-7 years) and CLN8 (5-10 years). There is no fundamental therapy, but there is the trial of some cures.","PeriodicalId":15012,"journal":{"name":"Journal of Alzheimers Disease & Parkinsonism","volume":"78 1","pages":"1-3"},"PeriodicalIF":0.0000,"publicationDate":"2017-03-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"A Short Commentary of Neuronal Ceroid Lipofuscinoses; Phenotypes inCongenital to Preschooler\",\"authors\":\"M. Shimono, A. Senju\",\"doi\":\"10.4172/2161-0460.1000316\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"The classification of neuronal ceroid lipofuscinoses (NCLs) had been clinically divided according to the age at the onset of symptoms: infantile, late infantile, juvenile and adult NCLs. However, this classification cannot always predict the causative gene; i.e., CLN1, for example, causes not only infantile NCL but also late onset infantile and adult NCLs. In 2012, a new classification for the NCLs that takes into account recent genetic and biochemical advances. This short review commentary focuses on the NCLs which might cause symptoms in children from neonate to preschooler age: CLN10 (neonatal), CLN1 (6-48 months), CLN14 (8-24 months), CLN2 (1-6 years), CLN3 (4-7 years), CLN5 (4-6 years), CLN6 (18 months-8 years), CLN7 (2-7 years) and CLN8 (5-10 years). There is no fundamental therapy, but there is the trial of some cures.\",\"PeriodicalId\":15012,\"journal\":{\"name\":\"Journal of Alzheimers Disease & Parkinsonism\",\"volume\":\"78 1\",\"pages\":\"1-3\"},\"PeriodicalIF\":0.0000,\"publicationDate\":\"2017-03-31\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Journal of Alzheimers Disease & Parkinsonism\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.4172/2161-0460.1000316\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"\",\"JCRName\":\"\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Journal of Alzheimers Disease & Parkinsonism","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.4172/2161-0460.1000316","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"","JCRName":"","Score":null,"Total":0}
A Short Commentary of Neuronal Ceroid Lipofuscinoses; Phenotypes inCongenital to Preschooler
The classification of neuronal ceroid lipofuscinoses (NCLs) had been clinically divided according to the age at the onset of symptoms: infantile, late infantile, juvenile and adult NCLs. However, this classification cannot always predict the causative gene; i.e., CLN1, for example, causes not only infantile NCL but also late onset infantile and adult NCLs. In 2012, a new classification for the NCLs that takes into account recent genetic and biochemical advances. This short review commentary focuses on the NCLs which might cause symptoms in children from neonate to preschooler age: CLN10 (neonatal), CLN1 (6-48 months), CLN14 (8-24 months), CLN2 (1-6 years), CLN3 (4-7 years), CLN5 (4-6 years), CLN6 (18 months-8 years), CLN7 (2-7 years) and CLN8 (5-10 years). There is no fundamental therapy, but there is the trial of some cures.