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

We report the case of a 50-year-old woman and her 32-year-old daughter, bot h of whom are affected with adult-onset metachromatic leukodystrophy (MLD) clinically presenting as peripheral neuropathy, Arylsulfatase A (ARSA) acti vities were markedly reduced, and electrophysiology showed a severe demyeli nating neuropathy with features of chronic acquired demyelinating polyneuro pathy. Molecular genetic studies of the family revealed that the proband an d 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 .