Pietro Falco (Italy)
Sapienza University of Rome Department of Human NeurosciencesAuthor Of 2 Presentations
NEUROPATHIC PAIN AND SMALL-FIBER RELATED SYMPTOMS IN LATE-ONSET TRANSTHYRETIN FAMILIAL AMYLOID POLYNEUROPATHY (TTR-FAP): A CLINICAL, NEUROPHYSIOLOGICAL AND SKIN BIOPSY STUDY.
- Pietro Falco (Italy)
Abstract
Background and Aims:
Neuropathic pain and small-fibers related symptoms have been poorly studied in late-onset TTR-FAP patients, though small-fibre damage is traditionally considered a diagnostic disease clue. Our study aims at assessing neuropathic pain and small fiber-related symptoms in TTR-FAP, besides correlations with specific neurophysiological and skin biopsy findings.
Methods:
We enrolled 21 TTR-FAP patients and 11 asymptomatic TTR mutations carriers. Each individual underwent clinical examination, DN4, NPSI, SFN-SIQ questionnaires, nerve conduction study, Quantitative sensory testing (QST) and skin biopsy. PGP9.5 intraepidermal (IENFD) and piloerector muscle (PMNFD) nerve fiber density was assessed from distal skin samples, along with semi-quantitative evaluation of sweat gland innervation (GNFD). Skin biopsy variables were compared with those from 20 healthy subjects.
Results:
81% patients and 64% carriers showed IENFD, PMNFD and GNFD reduction (p=<0.01), respect to healthy subjects. 71% patients and no carrier presented neuropathic pain, being pins and needles and burning pain the most frequently reported. 50% of patients complained of orthostatic intolerance, palpitations, gastro-intestinal and urinary disturbances and xerostomia, whereas 40% of carriers complained of orthostatic intolerance. Neuropathic pain and small fiber-related symptoms questionnaires scores correlated with distal IENFD, PMNFD, GNFD, QST variables and sural SAP impairment. All neurophysiological and skin biopsy variables negatively correlated with disease stage and duration.
Conclusions:
TTR-FAP patients frequently report neuropathic pain, with higher ratings in advanced disease stages, whereas autonomic dysfunction is less frequently complained. However, since asymptomatic disease stages, a similar small sensory and autonomic fibers involvement is detected by skin biopsy.
VASCULAR COMPRESSION IN TRIGEMINAL NEURALGIA DISCLOSES TRIGEMINAL ROOT SOMATOTOPIC ORGANIZATION
- Gianfranco De Stefano (Italy)
Abstract
Background and Aims:
In Trigeminal Neuralgia (TN) pain is localized in the distribution of one or more branches of the trigeminal nerve. A hallmark of TN is the presence of discrete skin areas able to trigger pain attacks when touched. In classical TN trigeminal reflexes are normal but dedicated MRI studies can recognize a vascular compression with morphological changes of trigeminal root. In this combined clinical, neuroimaging and neurophysiological study we aim to disclose trigeminal root somatotopic organization.
Methods:
We enrolled 53 patients with a definite diagnosis of classical TN. From MRI images we measured the polar coordinates of the impacting vessel on the trigeminal root circumference and then correlate it with pain distribution, trigger zones and latencies of the early components of the trigeminal reflexes.
Results:
Pain in V1, V2 and V3 is associated, respectively, with vascular compression in the medial, superior and lateral aspect of the nerve (p<0.05). Cutaneous trigger zones are associated with corresponding region of the circumference (p<0.05). Increased latency of the R1 component of the blink reflex is associated with medial compression, while increased latency of the SP1 component of the masseter inhibitory reflex is associated with inferomedial compression when the reflex is evoked from the infraorbital nerve, and with lateral compression when it is evoked from the mental nerve (p<0.05).
Conclusions:
In TN, pain distribution, trigger zones and increased latencies of trigeminal reflexes are correlated with specific sites of neurovascular compression along trigeminal root circumference, disclosing its somatotopic organization.
Presenter of 1 Presentation
NEUROPATHIC PAIN AND SMALL-FIBER RELATED SYMPTOMS IN LATE-ONSET TRANSTHYRETIN FAMILIAL AMYLOID POLYNEUROPATHY (TTR-FAP): A CLINICAL, NEUROPHYSIOLOGICAL AND SKIN BIOPSY STUDY.
- Pietro Falco (Italy)
Abstract
Background and Aims:
Neuropathic pain and small-fibers related symptoms have been poorly studied in late-onset TTR-FAP patients, though small-fibre damage is traditionally considered a diagnostic disease clue. Our study aims at assessing neuropathic pain and small fiber-related symptoms in TTR-FAP, besides correlations with specific neurophysiological and skin biopsy findings.
Methods:
We enrolled 21 TTR-FAP patients and 11 asymptomatic TTR mutations carriers. Each individual underwent clinical examination, DN4, NPSI, SFN-SIQ questionnaires, nerve conduction study, Quantitative sensory testing (QST) and skin biopsy. PGP9.5 intraepidermal (IENFD) and piloerector muscle (PMNFD) nerve fiber density was assessed from distal skin samples, along with semi-quantitative evaluation of sweat gland innervation (GNFD). Skin biopsy variables were compared with those from 20 healthy subjects.
Results:
81% patients and 64% carriers showed IENFD, PMNFD and GNFD reduction (p=<0.01), respect to healthy subjects. 71% patients and no carrier presented neuropathic pain, being pins and needles and burning pain the most frequently reported. 50% of patients complained of orthostatic intolerance, palpitations, gastro-intestinal and urinary disturbances and xerostomia, whereas 40% of carriers complained of orthostatic intolerance. Neuropathic pain and small fiber-related symptoms questionnaires scores correlated with distal IENFD, PMNFD, GNFD, QST variables and sural SAP impairment. All neurophysiological and skin biopsy variables negatively correlated with disease stage and duration.
Conclusions:
TTR-FAP patients frequently report neuropathic pain, with higher ratings in advanced disease stages, whereas autonomic dysfunction is less frequently complained. However, since asymptomatic disease stages, a similar small sensory and autonomic fibers involvement is detected by skin biopsy.