Article
Prenatal diagnosis of variant late infantile neuronal ceroid lipofuscinosis (vLINCL[Finnish]; CLN5).
Prenatal diagnosis - 1 Jul 1999
Rapola J, Lähdetie J, Isosomppi J, Helminen P, Penttinen M, Järvelä I
Abstract excerpt
The first prenatal diagnosis of variant late infantile neuronal ceroid lipofuscinosis (vLINCL[Finnish]; CLN5) is reported. The disease belongs to the group of progressive encephalopathies in children with psycho-motor deterioration, visual failure and premature death. Neurons and several extraneural cells harbour lysosomal inclusions showing accumulation of material with histochemical characteristics of ceroid...
Topics
- Child
- Chorionic Villi Sampling
- DNA Mutational Analysis
- Female
- Gene Deletion
- Gestational Age
- Haplotypes
- Humans
- Lysosomal Membrane Proteins
- Membrane Proteins
- Microscopy, Electron
- Mutation
- Neuronal Ceroid-Lipofuscinoses
- Pregnancy
- Prenatal Diagnosis
- Tripeptidyl-Peptidase 1