Isolated noradrenergic failure in adult-onset autosomal dominant leukodystrophy

Pietro Guaraldi, Vincenzo Donadio, Sabina Capellari, Manuela Contin, Maria Chiara Casadio, Pasquale Montagna, Rocco Liguori, Pietro Cortelli

Research output: Contribution to journalArticlepeer-review


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.

Original languageEnglish
Pages (from-to)123-126
Number of pages4
JournalAutonomic Neuroscience: Basic and Clinical
Issue number1-2
Publication statusPublished - Jan 20 2011


  • Adult-onset autosomal dominant leukodystrophy (ADLD)
  • Noradrenergic failure
  • Orthostatic hypotension

ASJC Scopus subject areas

  • Clinical Neurology
  • Cellular and Molecular Neuroscience
  • Endocrine and Autonomic Systems


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