Prenatal diagnosis of the neuronal ceroid lipofuscinoses
β Scribed by W. J. Kleijer; O. P. van Diggelen
- Publisher
- John Wiley and Sons
- Year
- 2000
- Tongue
- English
- Weight
- 49 KB
- Volume
- 20
- Category
- Article
- ISSN
- 0197-3851
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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
Ultrastructural studies of uncultured amniotic fluid cells obtained by genetic amniocentesis at 16 wk of gestation demonstrated 3 major cell types. Membrane bound curvilinear cytosomes were observed in about 30% of a subpopulation of dark, elongated cells. These are considered typical of the inclusi
The neuronal ceroid lipofuscinoses (NCLs), also referred to as Batten disease, are a group of neurodegenerative disorders characterised by the accumulation of an autofluorescent lipopigment in many cell types. Different NCL types are distinguished according to age of onset, clinical phenotype, ultra