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Late‐onset metachromatic leukodystrophy clinically presenting as isolated peripheral neuropathy: Compound heterozygosity for the IVS2+1G→a mutation and a newly identified missense mutation (Thr408Ile) in a Spanish family
Author(s) -
Comabella Manuel,
Waye John S.,
Raguer Nuria,
Eng Barry,
Domínguez Carmen,
Navarro Carmen,
Borrás Cecilia,
Krivit William,
Montalbán Xavier
Publication year - 2001
Publication title -
annals of neurology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 4.764
H-Index - 296
eISSN - 1531-8249
pISSN - 0364-5134
DOI - 10.1002/ana.1076
Subject(s) - metachromatic leukodystrophy , arylsulfatase a , missense mutation , compound heterozygosity , loss of heterozygosity , proband , peripheral neuropathy , medicine , mutation , leukodystrophy , pathology , genetics , endocrinology , biology , allele , disease , diabetes mellitus , gene
We report the case of a 50‐year‐old woman and her 32‐year‐old daughter, both of whom are affected with adult‐onset metachromatic leukodystrophy (MLD) clinically presenting as peripheral neuropathy. Arylsulfatase A (ARSA) activities were markedly reduced, and electrophysiology showed a severe demyelinating neuropathy with features of chronic acquired demyelinating polyneuropathy. Molecular genetic studies of the family revealed that the proband and her affected daughter are compound heterozygotes for the common IVS2+1G→A mutation and a newly identified missense mutation, Thr408Ile. This case indicates that adult metachromatic leukodystrophy should be considered in adult patients with demyelinating peripheral neuropathy of unknown etiology.