Late onset MLD with normal nerve conduction associated with two novel missense mutations in the ASA gene
| Autor: | Massimo Pandolfo, Al Salviati, Matteo Bertelli, D. Randi, S. Gallo |
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| Jazyk: | angličtina |
| Rok vydání: | 2004 |
| Předmět: |
Male
medicine.medical_specialty Pathology Neuromuscular disease Mutation Missense Short Report Late onset Biology Compound heterozygosity Polymerase Chain Reaction Synaptic Transmission Metachromatic leukodystrophy Nerve conduction velocity Cerebral Ventricles Corpus Callosum Internal medicine medicine Missense mutation Humans clinical late onset ASA gene Dominance Cerebral Alleles Cerebroside-Sulfatase Neurologic Examination Multiple sclerosis Genetic Carrier Screening Exons Leukodystrophy Metachromatic Sequence Analysis DNA Middle Aged medicine.disease Image Enhancement Magnetic Resonance Imaging Frontal Lobe Psychiatry and Mental health Endocrinology Peripheral neuropathy Disease Progression Surgery Dementia Neurology (clinical) Follow-Up Studies |
| Popis: | Metachromatic leukodystrophy (MLD) rarely has its clinical onset in young adults, with a combination of cognitive and behavioural symptoms and peripheral neuropathy. Here we present an exceptional case with very late onset at 42 years of age and no clinical or neurophysiological sign of peripheral neuropathy. Molecular analysis revealed compound heterozygosity for two novel missense mutations affecting conserved residues in the arylsulphatase A (ASA) sulphatase and carboxyterminal domains, resulting in an 89% loss of enzymatic activity. This case indicates that MLD needs to be considered in the differential diagnosis of very late onset white matter diseases, even if not accompanied by peripheral nerve involvement. |
| Databáze: | OpenAIRE |
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