Abstract
SummaryThe purpose of this study was to investigate the incidence and genetics of metachromatic leuco‐dystrophy (MLD). A series of 13 cases of late infantile MLD and 2 cases of juvenile MLD was collected from the northern part of Sweden and studied together with their relatives. The series was considered to be adequately representative of the true occurrence of MLD during the period 1955–1965. The incidence rate for late infantile MLD was estimated to be about 1 per 40 000. The MLD patients were highly concentrated to the south‐west part of Norrland. From the family analysis it was concluded that late infantile MLD is most probably transmitted by an autosomal recessive gene.
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