Isolated noradrenergic failure in adult-onset autosomal dominant leukodystrophy

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

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.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Autonomic Nervous System Diseases / etiology*
  • Autonomic Nervous System Diseases / physiopathology*
  • Genes, Dominant / physiology
  • Humans
  • Leukodystrophy, Metachromatic / complications*
  • Leukodystrophy, Metachromatic / physiopathology*
  • Male
  • Middle Aged
  • Norepinephrine / biosynthesis
  • Norepinephrine / deficiency*

Substances

  • Norepinephrine