title: Clinical study in Chinese patients with late-infantile form neuronal ceroid lipofuscinoses.
abstract: Clinical findings, pathological features and tripeptidyl peptidase 1 (TPP1) activity and genetic mutation analysis data of nine patients affected with the late-infantile form of neuronal ceroid lipofuscinoses (LINCL) in China are systematically reviewed with long-term follow-up. The patients were enrolled if curvilinear bodies were found on lymphocyte, skin or muscle specimens' examination, and/or reduction of tripeptidyl peptidase 1 (TPP1) activity were detected. CLN2 gene mutation were tested in five patients. The patients have onset age of 2-3.5 years, and most of them initially present partial seizure, and then progressed to deteriorated mental function, refractory myoclonic seizures, impaired vision, and ataxia with cerebellar atrophy. Discrete small vacuolated lymphocytes are found in 5-10% lymphocytes in 5 patients examined. Curvilinear bodies were found in vacuolated lymphocytes, in skin and muscle tissues. Tripeptidyl peptidase 1 (TPP1) activities are reduced in 5 patients with different CLN2 gene mutation. Detection of vacuolated lymphocytes may be a screen method for LINCL, ultrastructural examination of lymphocytes, combined with TPP1 activity assay, allowing for a definite and faster diagnosis and classification with minimal invasion.
authors.affiliation: Department of Pediatrics, Peking University First Hospital, Beijing, PR China. changxingzhi7318@163.com
authors.forename: Xingzhi
authors.initials: X
authors.lastname: Chang
authors.forename: Yu
authors.initials: Y
authors.lastname: Huang
authors.forename: Hongdi
authors.initials: H
authors.lastname: Meng
authors.forename: Yuwu
authors.initials: Y
authors.lastname: Jiang
authors.forename: Ye
authors.initials: Y
authors.lastname: Wu
authors.forename: Hui
authors.initials: H
authors.lastname: Xiong
authors.forename: Shuang
authors.initials: S
authors.lastname: Wang
authors.forename: Jiong
authors.initials: J
authors.lastname: Qin
mesh_terms: D000626:Aminopeptidases / Q000235:genetics* / Q000378:metabolism*; D002675:Child, Preschool; D002681:China / Q000453:epidemiology; D004252:DNA Mutational Analysis; D004152:Dipeptidyl-Peptidases and Tripeptidyl-Peptidases / Q000235:genetics* / Q000378:metabolism*; D055032:Electron Microscope Tomography; D005074:Evoked Potentials, Visual / Q000502:physiology; D005260:Female; D005500:Follow-Up Studies; D008401:Gas Chromatography-Mass Spectrometry; D006801:Humans; D008137:Longitudinal Studies; D008214:Lymphocytes / Q000473:pathology / Q000648:ultrastructure; D008297:Male; D009154:Mutation / Q000235:genetics*; D009472:Neuronal Ceroid-Lipofuscinoses / Q000201:enzymology / Q000235:genetics / Q000503:physiopathology; D010641:Phenotype; D057057:Serine Proteases / Q000235:genetics* / Q000378:metabolism*; D012867:Skin / Q000473:pathology / Q000648:ultrastructure; D000091346:Tripeptidyl-Peptidase 1
chemical_list: D000091346:Tripeptidyl-Peptidase 1; D057057:Serine Proteases; D000626:Aminopeptidases; D004152:Dipeptidyl-Peptidases and Tripeptidyl-Peptidases; C000717267:TPP1 protein, human