Back to Search
Start Over
A CLN2 gene nonsense mutation is associated with severe caudate atrophy and dystonia in LINCL.
- Source :
-
Neuropediatrics [Neuropediatrics] 2000 Aug; Vol. 31 (4), pp. 199-201. - Publication Year :
- 2000
-
Abstract
- Clinical features and results of the blood DNA analysis are reported of a child affected with a distinct phenotype of the late infantile form of neuronal ceroid-lipofuscinosis (LINCL). He was affected by microcephaly and hypotonia since the fourth month of life; acquisition of motor and language abilities was severely impaired, and a disorder of communication with stereotyped movements followed. By age four, he developed signs and symptoms of progressive myoclonic encephalopathy along with motor and cognitive deterioration. Extrapyramidal signs were associated with neuroradiological findings of marked atrophy of the caudate nucleus. Specific curvilinear bodies were observed in blood lymphocytes and skin biopsy. Homozygous, nonsense mutation in the CLN2 gene was found giving origin to an Arg208stop, which produces an early transcription termination with loss of translation of about 50% of the gene product. Any relationship between the severe clinical features of our patient and the homozygous mutation here reported must be investigated on a larger number of LINCL patients bearing the same mutation.
- Subjects :
- Atrophy complications
Atrophy pathology
Child
Dystonia physiopathology
Evoked Potentials, Visual physiology
Humans
Magnetic Resonance Imaging
Male
Neuronal Ceroid-Lipofuscinoses diagnosis
Tripeptidyl-Peptidase 1
Caudate Nucleus pathology
Codon, Nonsense genetics
Dystonia complications
Gene Expression genetics
Neuronal Ceroid-Lipofuscinoses complications
Neuronal Ceroid-Lipofuscinoses genetics
Transcription Factors genetics
Subjects
Details
- Language :
- English
- ISSN :
- 0174-304X
- Volume :
- 31
- Issue :
- 4
- Database :
- MEDLINE
- Journal :
- Neuropediatrics
- Publication Type :
- Academic Journal
- Accession number :
- 11071145
- Full Text :
- https://doi.org/10.1055/s-2000-7453