The Incidence and Genetics of Metachromatic Leucodystrophy in Northern Sweden

Abstract

Summary The 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.

Computed tomography in late‐infantile metachromatic leukodystrophy

“…Discussion MLD is inherited as an autosomal recessive disorder [12]. Gustavson and Hagberg [7] have estimated that the late-infantile form of MLD occurs once in 40,000 births in northern Sweden. The genetic defect results in reduction or absence of normal arylsulfatase-A, a lysosomal enzyme that hydrolyzes the sulfate group from sulfatide in cell membranes.…”

Peripheral neuropathy detected on electrophysiological study as first manifestation of metachromatic leucodystrophy in infancy.

“…Although its onset may be established at different stages in life, it is most commonly before the age of 2 years, particularly between 6 and 18 months (Gamstorp, 1970). It is likely that some forms of the disease, such as the late-infantile metachromatic leucodystrophy, are transmitted by a recessive autosomal gene (Gustavson and Hagberg, 1971).…”

Characterization of new arylsulfatase A gene mutations reinforces genotype-phenotype correlation in metachromatic leukodystrophy

“…The disease is characterized by progressive demyelination and dysfunction of the central (CNS) and peripheral (PNS) nervous systems due to the accumulation of undegraded sulfatides in oligodedrocytes and Schwann cells, respectively. The genetic transmission of MLD is autosomal recessive and its overall incidence is estimated to be 1:40.000-1:100.000 (Gustavson and Hagberg, 1971;Holve, et al, 2001;Kolodny, 1996;Pinto, et al, 2004;Poorthuis, et al, 1999).…”