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Auton Neurosci. 2011 Jan 20;159(1-2):123-6. doi: 10.1016/j.autneu.2010.07.011. Epub 2010 Aug 16.

Isolated noradrenergic failure in adult-onset autosomal dominant leukodystrophy.

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1
Neurological Sciences Department, University of Bologna, Bologna, Italy. pietro.guaraldi@unibo.it

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.

PMID:
20719577
DOI:
10.1016/j.autneu.2010.07.011
[Indexed for MEDLINE]
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