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 | Xingzhi Chang, Yu Huang, Hongdi Meng, Yuwu Jiang, Ye Wu, Hui Xiong, Shuang Wang, Jiong Qin |
Journal | Brain & development
(Brain Dev)
Vol. 34
Issue 9
Pg. 739-45
(Oct 2012)
ISSN: 1872-7131 [Electronic] Netherlands |
PMID | 22245569
(Publication Type: Journal Article, Research Support, Non-U.S. Gov't)
|
Copyright | Copyright © 2011 The Japanese Society of Child Neurology. Published by Elsevier B.V. All rights reserved. |
Chemical References |
- Tripeptidyl-Peptidase 1
- Serine Proteases
- Aminopeptidases
- Dipeptidyl-Peptidases and Tripeptidyl-Peptidases
- TPP1 protein, human
|
Topics |
- Aminopeptidases
(genetics, metabolism)
- Child, Preschool
- China
(epidemiology)
- DNA Mutational Analysis
- Dipeptidyl-Peptidases and Tripeptidyl-Peptidases
(genetics, metabolism)
- Electron Microscope Tomography
- Evoked Potentials, Visual
(physiology)
- Female
- Follow-Up Studies
- Gas Chromatography-Mass Spectrometry
- Humans
- Longitudinal Studies
- Lymphocytes
(pathology, ultrastructure)
- Male
- Mutation
(genetics)
- Neuronal Ceroid-Lipofuscinoses
(enzymology, genetics, physiopathology)
- Phenotype
- Serine Proteases
(genetics, metabolism)
- Skin
(pathology, ultrastructure)
- Tripeptidyl-Peptidase 1
|