Neuronal ceroid lipofuscinosis in The Netherlands-II
β Scribed by A. Pinckers
- Publisher
- Springer-Verlag
- Year
- 1983
- Tongue
- English
- Weight
- 132 KB
- Volume
- 56
- Category
- Article
- ISSN
- 0012-4486
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β¦ Synopsis
This paper is a report on Neuronal Ceroid Lipofuscinosis (NCL) in The Netherlands (synonyms: Batten disease, Jansky-Bielschowsky disease, Batten-Mayou disease, Stock-Spielmeyer-Vogt disease). Discussed are the late infantile type with predominant accumulation of lipofuscin in the form of curvilinear bodies (Jansky-Bielschowsky) and the juvenile type with accumulation of tipofuscin in the form of fingerprint-and rectilinear profiles (Batten-Mayou disease and Stock-Spielmeyer-Vogt disease or F-type of NCL).
π SIMILAR VOLUMES
The computed tomography (CT) findings in a verified case of neuronal ceroid lipofuscinosis (NCL) are presented. CT revealed diffuse and severe cerebral atrophy, reflected by generalized subarachnoid space enlargement and symmetric ventricular dilatation. There was no evidence of abnormalities of the
We have found a group of individuals with the late infantile, the early juvenile variant, and juvenile neuronal ceroid-lipofuscinosis (NCL) in Newfoundland, an island with a population of 500,000. In the past 25 yr, we have ascertained 44 cases of NCL in 32 sibships: 32 cases of late infantile NCL (
## Abstract The search for biochemical abnormalities in the neuronal ceroidβlipofuscinoses (NCL) or Batten disease was initiated with the discovery of normal levels of gangliosides in juvenile amaurotic idiocy. The primary goal of most biochemical studies has been to discover the unique biochemical