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EnglishWe 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.
| Titolo: | Isolated noradrenergic failure in adult-onset autosomal dominant leukodystrophy. | |
| Autore/i: | GUARALDI, PIETRO; Donadio V.; CAPELLARI, SABINA; CONTIN, MANUELA MARIA ANTONIA; Casadio M. C.; MONTAGNA, PASQUALE; LIGUORI, ROCCO; CORTELLI, PIETRO | |
| Autore/i Unibo: | ||
| Anno: | 2011 | |
| Rivista: | ||
| Digital Object Identifier (DOI): | http://dx.doi.org/10.1016/j.autneu.2010.07.011 | |
| 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. | |
| Data prodotto definitivo in UGOV: | 2013-05-22 15:28:44 | |
| Appare nelle tipologie: | 1.01 Articolo in rivista |
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