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Updated: Jun 10, 2026

ALS - Motor Neuron Disease: Mechanism and Development of New Therapies
Published on: July 29, 2007
Isolated noradrenergic failure in adult-onset autosomal dominant leukodystrophy
Pietro Guaraldi1, Vincenzo Donadio, Sabina Capellari
1Neurological 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.
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