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

Autor:	M, Comabella, J S, Waye, N, Raguer, B, Eng, C, Domínguez, C, Navarro, C, Borrás, W, Krivit, X, Montalbán
Rok vydání:	2001
Předmět:	Diagnosis Differential Heterozygote Spain DNA Mutational Analysis Mutation Missense Neural Conduction Humans Peripheral Nervous System Diseases Female Leukodystrophy Metachromatic Middle Aged Alleles Pedigree
Zdroj:	Annals of neurology. 50(1)
ISSN:	0364-5134
Popis:	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.
Databáze:	OpenAIRE
Externí odkaz:	https://explore.openaire.eu/search/publication?articleId=pmid________::6afe5e98b33e03e5c848b122b30b6bd3 https://pubmed.ncbi.nlm.nih.gov/11456299 Zobrazit plný text záznamu Plný text