Isolated noradrenergic failure in adult-onset autosomal dominant leukodystrophy.
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.
Guaraldi
Pietro
P
Neurological Sciences Department, University of Bologna, Bologna, Italy. pietro.guaraldi@unibo.it
Donadio
Vincenzo
V
Capellari
Sabina
S
Contin
Manuela
M
Casadio
Maria Chiara
MC
Montagna
Pasquale
P
Liguori
Rocco
R
Cortelli
Pietro
P
D001342:Autonomic Nervous System Diseases / Q000209:etiology* / Q000503:physiopathology*; D005799:Genes, Dominant / Q000502:physiology; D006801:Humans; D007966:Leukodystrophy, Metachromatic / Q000150:complications* / Q000503:physiopathology*; D008297:Male; D008875:Middle Aged; D009638:Norepinephrine / Q000096:biosynthesis / Q000172:deficiency*
D009638:Norepinephrine