Isolated noradrenergic failure in adult-onset autosomal dominant leukodystrophy
| Autor: | Vincenzo Donadio, Manuela Contin, Maria Chiara Casadio, Sabina Capellari, Pasquale Montagna, Pietro Cortelli, Pietro Guaraldi, Rocco Liguori |
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| Přispěvatelé: | Guaraldi P., Donadio V., Capellari S., Contin M., Casadio M.C., Montagna P., Liguori R., Cortelli P. |
| Rok vydání: | 2010 |
| Předmět: |
Male
medicine.medical_specialty Vasoactive intestinal peptide Noradrenergic failure Biology Adult-onset autosomal dominant leukodystrophy (ADLD) Cellular and Molecular Neuroscience Norepinephrine Internal medicine Gene duplication medicine Humans Genes Dominant integumentary system Orthostatic hypotension Endocrine and Autonomic Systems Leukodystrophy Microneurography Leukodystrophy Metachromatic Middle Aged medicine.disease Autonomic nervous system Endocrinology Autonomic Nervous System Diseases Cholinergic Neurology (clinical) Lamin medicine.drug |
| Zdroj: | Autonomic neuroscience : basicclinical. 159(1-2) |
| ISSN: | 1872-7484 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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