title: Skin biopsy and microneurography disclose selective noradrenergic dysfunction due to dopamine-β-hydroxylase deficiency.
abstract: Skin biopsy and microneurography are autonomic tests directly evaluating adrenergic and cholinergic sympathetic fibers to identify selective deficiency of a specific peripheral sympathetic subdivision. We describe a patient with tomacular neuropathy due to a deletion of the PMP22 gene who complained of chronic orthostatic hypotension due to a dopamine-β-hydroxylase deficiency confirmed by genetic analysis demonstrating two novel mutations in the DβH gene. To further characterize autonomic dysfunctions the proband underwent skin biopsy and microneurography. These tests disclosed a selective peripheral adrenergic dysfunction demonstrating the possibility to ascertain DβH deficiency. In conclusion, skin biopsy and microneurography may help to increase the diagnosis of this peculiar disorder particularly when routine autonomic nervous system tests show uncertain results.
authors.affiliation: IRCCS Istituto delle Scienze Neurologiche, Bologna, Italy. Electronic address: vincenzo.donadio@unibo.it.
authors.forename: V
authors.initials: V
authors.lastname: Donadio
authors.affiliation: IRCCS Istituto delle Scienze Neurologiche, Bologna, Italy; Dipartimento di Scienze Biomediche e Neuromotorie, Università di Bologna, Italy.
authors.forename: R
authors.initials: R
authors.lastname: Liguori
authors.affiliation: IRCCS Istituto delle Scienze Neurologiche, Bologna, Italy.
authors.forename: A
authors.initials: A
authors.lastname: Incensi
authors.affiliation: Dipartimento di Scienze Biomediche e Neuromotorie, Università di Bologna, Italy.
authors.forename: G
authors.initials: G
authors.lastname: Chiaro
authors.affiliation: Dipartimento di Scienze Biomediche e Neuromotorie, Università di Bologna, Italy.
authors.forename: A
authors.initials: A
authors.lastname: Bartoletti-Stella
authors.affiliation: IRCCS Istituto delle Scienze Neurologiche, Bologna, Italy; Dipartimento di Scienze Biomediche e Neuromotorie, Università di Bologna, Italy.
authors.forename: S
authors.initials: S
authors.lastname: Capellari
authors.affiliation: IRCCS Istituto delle Scienze Neurologiche, Bologna, Italy; Dipartimento di Scienze Biomediche e Neuromotorie, Università di Bologna, Italy.
authors.forename: P
authors.initials: P
authors.lastname: Cortelli
mesh_terms: D000320:Adrenergic Fibers / Q000473:pathology*; D000328:Adult; D001341:Autonomic Nervous System / Q000473:pathology* / Q000503:physiopathology; D001342:Autonomic Nervous System Diseases / Q000150:complications / Q000473:pathology*; D001706:Biopsy / Q000379:methods; D004298:Dopamine / Q000378:metabolism; D004299:Dopamine beta-Hydroxylase / Q000172:deficiency*; D006801:Humans; D007024:Hypotension, Orthostatic / Q000473:pathology* / Q000503:physiopathology; D008297:Male; D009132:Muscles / Q000473:pathology; D009638:Norepinephrine / Q000172:deficiency* / Q000378:metabolism*; D010523:Peripheral Nervous System Diseases / Q000209:etiology / Q000473:pathology / Q000503:physiopathology*; D012867:Skin / Q000473:pathology*; D013564:Sympathetic Nervous System / Q000473:pathology* / Q000503:physiopathology
chemical_list: D004299:Dopamine beta-Hydroxylase; D004298:Dopamine; D009638:Norepinephrine
keywords: Dopamine-β-hydroxylase deficiency; Microneurography; Skin biopsy