The Distribution of the Gene for the Juvenile Type of Gaucher Disease in Sweden

Abstract

A study of 30 Swedish families with the Norrbottnian type of Gaucher disease provides evidence for two clusters of the gene, one close to Overkalix in the northern part of the county of Norrbotten and the other in the vicinity of Arvidsjaur in the southern part of the same county. The gene for Gaucher disease in Overkalix appeared later than that in Arvidsjaur. A founder moving from Arvidsjaur to Overkalix during the seventeenth century or two different mutations are the most likely explanations of this finding.

Morbus gaucher: A report of two cases

“…Izgleda da u osnovi različitog ispoljavanja MG, u različitim populacijama, leži polimorfizam alela. Jevrejsku populaciju karakteriše prevalentnost N370S, švedsku L444P, špansku i portugalsku N377S, arapsku D409H [34][35][36] . Frekvencija pojavljivanja bolesti je različita i kreće se od 1/57 000 u Australiji do 1,16/100 000 u Holandiji i 1/855 kod Jevreja [37][38][39] .…”

Novel mutation, L371V, causing multigenerational Gaucher disease in a Lebanese family

“…Its presence in either the heterozygous or homozygous state is protective against the development of neurologic involvement. Another common mutation, L444P, is also pan‐ethnic, common within the population of Northern Sweden [Iselius et al, 1989; Dahl et al, 1993], and when present in the homozygous state has a clinical presentation in early childhood that is often associated with neurologic symptoms.…”