Cutaneous sensory and autonomic denervation in CADASIL
Autor: | Vincenzo Donadio, Annamaria Stancanelli, Luigi Pianese, Lucio Santoro, Rocco Liguori, Giuseppe Caporaso, Michele Ragno, Maria Nolano, Vincenzo Provitera, Francesca Califano |
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Přispěvatelé: | Nolano, Maria, Provitera, Vincenzo, Donadio, Vincenzo, Caporaso, Giuseppe, Stancanelli, Annamaria, Califano, Francesca, Pianese, Luigi, Liguori, Rocco, Santoro, Lucio, Ragno, Michele |
Jazyk: | angličtina |
Rok vydání: | 2016 |
Předmět: |
Adult
Male 0301 basic medicine Pathology medicine.medical_specialty CADASIL Immunofluorescence Autonomic Denervation Leukoencephalopathy Young Adult 03 medical and health sciences Nerve Fibers 0302 clinical medicine medicine Humans Aged integumentary system Vasomotor medicine.diagnostic_test business.industry Middle Aged medicine.disease Neurovascular bundle Sudomotor 030104 developmental biology medicine.anatomical_structure Peripheral nervous system Female Neurology (clinical) Epidermis business 030217 neurology & neurosurgery |
Popis: | OBJECTIVE: To assess the involvement of the peripheral nervous system in cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) by means of immunofluorescence and confocal analysis of punch skin biopsies. METHODS: We recruited 14 unrelated patients with CADASIL (M/F = 9/5; age 53.9 ± 10.5 years) and 52 healthy controls (M/F = 31/21; age 53.8 ± 9.8). Patients underwent clinical and neuroradiologic assessment. Three-millimeter punch skin biopsies were taken from the fingertip, the thigh, and the distal leg and processed using indirect immunofluorescence and a panel of primary antibodies to mark vessels and sensory and autonomic nerve fibers. Intraepidermal nerve fibers (IENF), Meissner corpuscles (MC), and sudomotor, vasomotor, and pilomotor nerves were assessed using confocal microscopy. RESULTS: In patients, compared to controls, we found a severe loss of IENF at the distal leg (p < 0.01), at the thigh (p < 0.01), and at the fingertip (p < 0.01) with a non-length-dependent pattern and a loss of MC (p < 0.01). A severe sudomotor, vasomotor, and pilomotor nerve fiber loss was found by semiquantitative evaluation. Along with nerve loss, a severe derangement of the vascular bed was observed. In our patient population, sensory and autonomic denervation did not correlate with age, sex, type of mutation, or MRI involvement. CONCLUSIONS: We found an involvement of the peripheral nervous system in patients with CADASIL through the assessment of cutaneous somatic and autonomic nerves. The neurovascular derangement observed in the skin may reflect, although to a lesser extent, what happens in the CNS. |
Databáze: | OpenAIRE |
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