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

Ann Neurol. 2001 Jul;50(1):108-12.


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.

MeSH terms

  • Alleles
  • DNA Mutational Analysis
  • Diagnosis, Differential
  • Female
  • Heterozygote
  • Humans
  • Leukodystrophy, Metachromatic / diagnosis
  • Leukodystrophy, Metachromatic / genetics*
  • Leukodystrophy, Metachromatic / physiopathology
  • Middle Aged
  • Mutation, Missense / genetics*
  • Neural Conduction / physiology
  • Pedigree
  • Peripheral Nervous System Diseases / diagnosis*
  • Spain