Familial progressive myoclonic epilepsy. A clinical, genetical, biochemical and patho-anatomical study of a family with a 6-year follow-up

Six siblings, including 4 cases of myoclonic epilepsy, their parents and 2 grandmothers were subjected to systematic investigation, and the patients were followed-up. The genetic studies revealed in the mother's family a patient with Lafora bodies demonstrated at autopsy. No chromosome abnormalities were found nor any linkage to the HLA system. The affected family members were characterized biochemically by an increased excretion of total glycosaminoglycans and/or an abnormal electrophoretic pattern of urinary glycosaminoglycans with an increased proportion of low-sulfated glycosaminoglycans. In the healthy family members this pattern of electrophoresis could also be demonstrated in the father and the paternal grandmother. Based on the biochemical results and the genetic studies it is suggested that the family members with progressive familial myoclonic epilepsy present a combination of at least 2 hereditary defects. The course of the disease has been relatively benign and treatment with sodium valproate, baclofen and clonazepam has shown quite satisfying results. In consequence of the biochemical findings combined treatment with A and E vitamins has been initiated.     

Autonomic nerve calcification and peripheral neuropathy in olivopontocerebellar atrophy

This report concerns an unusual form of olivopontocerebellar atrophy (OPCA) of adult onset, inherited as an autosomal dominant. We examined 5 patients in one generation and performed neuropathological investigations in 3 of these. The clinical and pathological features were different from those of OPCA types I to V. Apart from olivopontocerebellar degeneration, there was dementia in 4, massive atrophy of the spinal cord in 3, and focal degeneration of the optic nerves in at least 1 case. The most remarkable findings were, however, the involvement of the peripheral nervous system and the abundant intrafascicular calcification in sympathetic nerve fibres and in their ganglia.     

The role of personality, recent life stress and arthritic severity in predicting pain

This study investigated the role of personality, life stress and osteoarthritic severity in accounting for pain in aged individuals. Previous empirical research on older adults with chronic pain is nonexistent. The study included 40 subjects with an average age of 70 yr. Results indicated that personality, specifically hypochrondriasis of the individual, was the most powerful predictor of pain as compared with arthritic severity and life stress. Subjective pain was lower among older patients than among younger patients despite greater arthritic severity. The amount of hypochondriasis and life stress was also less for older patients. Implications for interventions in terms of modifying perception of pain in older adults is discussed.