PMID: 6172569Jan 1, 1981Paper

A dominant form of neuronal ceroid-lipofuscinosis. An ultrastructural study of sural nerve and peripheral lymphocytes

Journal of Neurology
B BadurskaH Jedrzejowska

Abstract

The study of the ultrastructure of the sural nerve and peripheral blood lymphocytes of a boy with late-infantile neuronal ceroid-lipofuscinosis revealed the presence of 'curvilinear bodies' and 'fingerprint profiles'. The elder sister of the patient died at the age of 7 years after progressive mental and motor deterioration. The same kind of cytoplasmic inclusions was found in the lymphocytes of the father of these children, who had had epilepsy since the age of 32. Clinical data and the results of the ultrastructural study suggest that in the same family two different forms of ceroid-lipofuscinosis appear and that the disease is inherited as an autosomal dominant trait. This family seems to suggest the nosological unity of clinically different forms of ceroid-lipofuscinosis.

References

Oct 1, 1975·Journal of Neurology, Neurosurgery, and Psychiatry·H H GoebelH Pilz
Mar 1, 1973·Journal of the Neurological Sciences·M HaltiaA Keränen
Mar 1, 1973·Journal of the Neurological Sciences·P SantavuoriC Raitta
Jan 1, 1971·Brain : a Journal of Neurology·D H BoehmeW Zeman

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Citations

Jun 1, 1994·International Journal of Developmental Neuroscience : the Official Journal of the International Society for Developmental Neuroscience·W A DunnE A Brown
Jul 1, 1989·The British Journal of Psychiatry : the Journal of Mental Science·J H Dowson
Jan 1, 1988·American Journal of Medical Genetics. Supplement·K E WisniewskiJ Heaney-Kieras
Jan 1, 1988·American Journal of Medical Genetics. Supplement·L Black, R K Pullarkat

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Batten Disease

Batten Disease is a group of nervous system disorders known as neuronal ceroid lipofuscinosis. This feed focuses on neurobiological and neuropathological aspects of this disease.