Familial Lafora body disease of late onset : Report of four cases in one family and a review of the literature

Lafora body disease is one cause of progressive myoclonus epilepsy. It typically presents in the second decade with generalized seizures, myoclonus and then intellectual decline. Death is usual within 10 years. Diagnosis may be made by biopsy of skin, muscle, liver or brain. We present four siblings...

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Bibliographic Details
Published in:Journal of neurology 1997, Vol.244 (1), p.40-44
Main Authors: FOOTITT, D. R, QUINN, N, KOCEN, R. S, ÖZ, B, SCARAVILLI, F
Format: Article
Language:English
Subjects:
Adult
Apocrine Glands - pathology
Biological and medical sciences
Biopsy
Brain Diseases - complications
Brain Diseases - diagnosis
Cytoplasm - ultrastructure
Dementia - etiology
Electroencephalography
Epilepsies, Myoclonic - etiology
Fatal Outcome
Female
Headache. Facial pains. Syncopes. Epilepsia. Intracranial hypertension. Brain oedema. Cerebral palsy
Humans
Male
Medical sciences
Microscopy, Electron
Nervous system (semeiology, syndromes)
Neurology
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Description
Summary:Lafora body disease is one cause of progressive myoclonus epilepsy. It typically presents in the second decade with generalized seizures, myoclonus and then intellectual decline. Death is usual within 10 years. Diagnosis may be made by biopsy of skin, muscle, liver or brain. We present four siblings who were normal until their mid-twenties, but then developed intellectual decline, followed by myoclonus. Although a rare form of Lafora body disease has been described that follows a more benign course, may be of later onset, and whose pathology is subtly different, this family is so far unique in terms of the late presentation of otherwise typical Lafora body disease.
ISSN:0340-5354
1432-1459