Abstract
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.
| Original language | English |
|---|---|
| Pages (from-to) | 1039-1044 |
| Number of pages | 6 |
| Journal | Neurology |
| Volume | 86 |
| Issue number | 11 |
| DOIs | |
| Publication status | Published - Mar 15 2016 |
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ASJC Scopus subject areas
- Clinical Neurology
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Cutaneous sensory and autonomic denervation in CADASIL. / Nolano, Maria; Provitera, Vincenzo; Donadio, Vincenzo; Caporaso, Giuseppe; Stancanelli, Annamaria; Califano, Francesca; Pianese, Luigi; Liguori, Rocco; Santoro, Lucio; Ragno, Michele.
In: Neurology, Vol. 86, No. 11, 15.03.2016, p. 1039-1044.Research output: Contribution to journal › Article
}
TY - JOUR
T1 - Cutaneous sensory and autonomic denervation in CADASIL
AU - Nolano, Maria
AU - Provitera, Vincenzo
AU - Donadio, Vincenzo
AU - Caporaso, Giuseppe
AU - Stancanelli, Annamaria
AU - Califano, Francesca
AU - Pianese, Luigi
AU - Liguori, Rocco
AU - Santoro, Lucio
AU - Ragno, Michele
PY - 2016/3/15
Y1 - 2016/3/15
N2 - 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.
AB - 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.
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U2 - 10.1212/WNL.0000000000002468
DO - 10.1212/WNL.0000000000002468
M3 - Article
C2 - 26873958
AN - SCOPUS:84961266668
VL - 86
SP - 1039
EP - 1044
JO - Neurology
JF - Neurology
SN - 0028-3878
IS - 11
ER -