| Autor: |
Telakivi, T., Partinen, M., Salmi, T. |
| Předmět: |
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| Zdroj: |
Journal of Mental Deficiency Research; Mar1985, Vol. 29 Issue 1, p29-35, 7p |
| Abstrakt: |
This article focuses on sleep disturbances in patients with ceroid lipofuscinosis. Juvenile neuronal ceroid lipofuscinosis (JNCL) is a genetic disorder with autosomal recessive transmission. Its pathogenesis is unknown. There is accumulation of an autofluorescent lipopigment, ceroid, in intraneuronal deposits. This pigment has also been demonstrated in other tissues, e.g. conjunctival cutaneous, muscle and intestinal tissues. The most specific laboratory findings are characteristic vacuoles and inclusions In leucocytes of the peripheral blood and an altered electroretinogram (ERG) even in the absence of typical ophthalmoscopic signs of tapetoretinal degeneration. |
| Databáze: |
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