Isolated noradrenergic failure in adult-onset autosomal dominant leukodystrophy
- PMID: 20719577
- DOI: 10.1016/j.autneu.2010.07.011
Isolated noradrenergic failure in adult-onset autosomal dominant leukodystrophy
Abstract
We evaluated the autonomic control of the cardiovascular system and the skin innervation of a patient from a new Italian family with a genetically proven diagnosis of adult-onset autosomal dominant leukodystrophy (ADLD) due to lamin B1 gene duplication. Cardiovascular reflexes and pharmacological assessment indicated a selective sympathetic failure, sparing cardiovagal function. Microneurography revealed absent sympathetic activity. The evaluation of autonomic innervation of skin annexes showed severely depleted and morphologically abnormal noradrenergic dopamine-β-hydroxylase (DβH) immunoreactive fibres with preserved cholinergic vasoactive intestinal polypeptide (VIP) immunoreactive fibres. This peculiar autonomic dysfunction may represent a hallmark for ADLD.
Copyright © 2010 Elsevier B.V. All rights reserved.
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