Essential tremor, nystagmus and duodenal ulceration: A “new” dominantly inherited condition*
- 1 January 1976
- journal article
- Published by Wiley in Clinical Genetics
- Vol. 9 (1), 81-91
- https://doi.org/10.1111/j.1399-0004.1976.tb01553.x
Abstract
The familial occurrence of essential tremor combined with (congenital) nystagmus, duodenal ulceration and a narcolepsy‐like sleep disturbance caused by an autosomal dominant gene with high penetrance and fairly uniform expressivity is reported in a family of Swedish‐Finnish ancestry. Twelve of 17 affected family members had essential tremor which began between 30–40 years of age and which could be controlled temporarily by alcohol; this resulted in alcoholism in several affected individuals. The most severely affected persons showed cerebellar signs which may reflect a possible pathogenetic relationship of the syndrome to the genetic cerebellar atrophies. Nystagmus, observed in 12 of 17 affected family members (eight of whom were also affected with tremor) usually was congenital and accompanied by refractive errors. Duodenal ulcers occurred almost exclusively in individuals with the neurological syndrome, and preceded its onset in some cases. The ulcer disease therefore seems to be a component manifestation of the syndrome and is interpreted as a pleiotropic effect of the gene which also causes the nystagmus, tremor and sleep disturbance.Keywords
This publication has 19 references indexed in Scilit:
- The value of investigations of the incidence of peptic ulcer in the families of patients with duodenal ulcer.Journal of Medical Genetics, 1972
- Hereditary studies of congenital nystagmus in a Swedish populationAnnals of Human Genetics, 1971
- Hereditary nystagmus in early childhood.Journal of Medical Genetics, 1970
- THE OCCURRENCE OF PEPTIC ULCERATION IN PATIENTS WITH PARKINSONISMActa Neurologica Scandinavica, 1966
- Gastrointestinal Ulceration and Central Nervous System LesionsArchives of Pediatrics & Adolescent Medicine, 1963
- ZUM KAPITEL DES AUSSEROKULAREN ERBLICHEN NYSTAGMUSHuman Heredity, 1953
- OBSERVATIONS ON ESSENTIAL (HEREDOFAMILIAL) TREMORBrain, 1949
- OLIVO-PONTO-CEREBELLAR ATROPHYBrain, 1948
- Ueber hereditären essentiellen TremorArchiv Fur Psychiatrie Und Nervenkrankheiten, 1908
- HEREDITARY TREMOR, A HITHERTO UNDESCRIBED FORM OF MOTOR NEUROSIS.1The American Journal of the Medical Sciences, 1887