Back to Search
Start Over
The first three Russian cases of classical, late-infantile, neuronal ceroid lipofuscinosis.
- Source :
-
European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society [Eur J Paediatr Neurol] 2002; Vol. 6 (3), pp. 161-4. - Publication Year :
- 2002
-
Abstract
- We describe the first three cases of classical, late-infantile, neuronal ceroid lipofuscinosis from Russia. All of the patients had seizures, myoclonia, cognitive deterioration, cerebellar and pyramidal signs and also optic atrophy. Parkinsonian features were observed in one case. Electroencephalogram, evoked potentials, fundoscopy and magnetic resonance imaging (MRI) findings were characteristic for classical, late-infantile, neuronal ceroid lipofuscinosis. There was also evidence of hypointensity of the thalami in T2-weighted MRI in one patient, which was not reported earlier. Nerve conduction velocity was slowed in one case. All patients were found to have significantly reduced tripeptidyl peptidase 1 activity. All patients were homozygous for g3670 C-->T (Arg208Stop) mutation. We presume that this mutation is common in Russia.
- Subjects :
- Aminopeptidases
Brain enzymology
Brain pathology
Brain physiopathology
Child
Child, Preschool
Dipeptidyl-Peptidases and Tripeptidyl-Peptidases
Electroencephalography
Endopeptidases genetics
Endopeptidases metabolism
Evoked Potentials physiology
Female
Homozygote
Humans
Magnetic Resonance Imaging
Male
Mutation
Neurologic Examination
Neuronal Ceroid-Lipofuscinoses enzymology
Neuronal Ceroid-Lipofuscinoses physiopathology
Russia
Serine Proteases
Tripeptidyl-Peptidase 1
Neuronal Ceroid-Lipofuscinoses pathology
Subjects
Details
- Language :
- English
- ISSN :
- 1090-3798
- Volume :
- 6
- Issue :
- 3
- Database :
- MEDLINE
- Journal :
- European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society
- Publication Type :
- Academic Journal
- Accession number :
- 12363103
- Full Text :
- https://doi.org/10.1053/ejpn.2002.0584