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

doi:10.1016/j.autneu.2010.07.011

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

Istituto Scienze Neurologiche

Research output: Contribution to journal › Article › peer-review

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.

Original language	English
Pages (from-to)	123-126
Number of pages	4
Journal	Autonomic Neuroscience: Basic and Clinical
Volume	159
Issue number	1-2
DOIs	https://doi.org/10.1016/j.autneu.2010.07.011
Publication status	Published - Jan 20 2011

Keywords

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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10.1016/j.autneu.2010.07.011

Cite this

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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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AU - Guaraldi, Pietro

AU - Donadio, Vincenzo

AU - Capellari, Sabina

AU - Contin, Manuela

AU - Casadio, Maria Chiara

AU - Montagna, Pasquale

AU - Liguori, Rocco

AU - Cortelli, Pietro

PY - 2011/1/20

Y1 - 2011/1/20

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AB - 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.

KW - Adult-onset autosomal dominant leukodystrophy (ADLD)

KW - Noradrenergic failure

KW - Orthostatic hypotension

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Isolated noradrenergic failure in adult-onset autosomal dominant leukodystrophy

Abstract

Keywords

ASJC Scopus subject areas

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