The diagnostic accuracy of Sudoscan in transthyretin familial amyloid polyneuropathy

Castro, José J.; Miranda, Bruno; Castro, Isabel; Carvalho, Mamede de; Conceição, Isabel

doi:10.1016/j.clinph.2016.02.013

Cited by 61 publications

(43 citation statements)

References 31 publications

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“…Electrochemical skin conductance has been reported in several small studies as a non-invasive, reliable marker of sweat function and SFN 191192193. Electrical stimulation with low direct voltage current is applied to sudomotor fibers of the palms and soles, which in turn activates sweat glands.…”

Section: Diagnostic Approachmentioning

confidence: 99%

Diagnosis and management of sensory polyneuropathy

Gwathmey

Pearson

2019

BMJ

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Sensory polyneuropathies, which are caused by dysfunction of peripheral sensory nerve fibers, are a heterogeneous group of disorders that range from the common diabetic neuropathy to the rare sensory neuronopathies. The presenting symptoms, acuity, time course, severity, and subsequent morbidity vary and depend on the type of fiber that is affected and the underlying cause. Damage to small thinly myelinated and unmyelinated nerve fibers results in neuropathic pain, whereas damage to large myelinated sensory afferents results in proprioceptive deficits and ataxia. The causes of these disorders are diverse and include metabolic, toxic, infectious, inflammatory, autoimmune, and genetic conditions. Idiopathic sensory polyneuropathies are common although they should be considered a diagnosis of exclusion. The diagnostic evaluation involves electrophysiologic testing including nerve conduction studies, histopathologic analysis of nerve tissue, serum studies, and sometimes autonomic testing and cerebrospinal fluid analysis. The treatment of these diseases depends on the underlying cause and may include immunotherapy, mitigation of risk factors, symptomatic treatment, and gene therapy, such as the recently developed RNA interference and antisense oligonucleotide therapies for transthyretin familial amyloid polyneuropathy. Many of these disorders have no directed treatment, in which case management remains symptomatic and supportive. More research is needed into the underlying pathophysiology of nerve damage in these polyneuropathies to guide advances in treatment.

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Section: Diagnostic Approachmentioning

confidence: 99%

Diagnosis and management of sensory polyneuropathy

Gwathmey

Pearson

2019

BMJ

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“…The severity of polyneuropathy can be assessed by application of various polyneuropathy scores. 47 In this study, the SUDOSCAN had a sensitivity of 76'% and specificity of 85%. In case of muscle weakness, quantification by grip strength measurement can be carried out.…”

Section: Clinical Neurologic Examinationmentioning

confidence: 52%

“…These include the neuropathy impairment score (NIS), the NIS-lower limb (LL) score, the polyneuropathy disability (PND) score, the Norfolk QOL-DN total score, the Kumamoto score for assessing sensory disturbances, or the modified Norris score. 47 Since SFN is often the initial manifestation, it is essential to diagnose SFN properly and to start therapy in time. In a retrospective, cross-sectional study of 283 ATTRm amyloidosis patients, NIS was correlated with functional scores of locomotion, with the PND score, and with the disease stage.…”

Section: Clinical Neurologic Examinationmentioning

confidence: 99%

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Hereditary transthyretin-related amyloidosis

et al. 2018

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Hereditary transthyretin(TTR)-related amyloidosis (ATTRm amyloidosis) is an endemic/non-endemic, autosomal-dominant, early-and late-onset, rare, progressive disorder, predominantly manifesting as length-dependent, small fiber dominant, axonal polyneuropathy and frequently associated with cardiac disorders and other multisystem diseases. ATTRm amyloidosis is due to variants in the TTR gene, with the substitution Val30Met as the most frequent mutation. TTR mutations lead to destabilization and dissociation of TTR tetramers into variant TTR monomers, and formation of amyloid fibrils, which are consecutively deposited extracellularly in various tissues, such as nerves, heart, brain, eyes, intestines, kidneys, or the skin. Neuropathy may not only include large nerve fibers but also small fibers, and not only sensory and motor fibers but also autonomic fibers. Types of TTR variants, age at onset, penetrance, and clinical presentation vary between geographical areas. Suggestive of a ATTRm amyloidosis are a sensorimotor polyneuropathy, positive family history, autonomic dysfunction, cardiomyopathy, carpal tunnel syndrome, unexplained weight loss, and resistance to immunotherapy. If only sensory A-delta or C fibers are affected, small fiber neuropathy ensues. Diagnostic tests for small fiber neuropathy include determination of intraepidermal nerve fiber density, laser-evoked potentials, heat-and cold-detection thresholds, and measurement of the electrochemical skin conductance. Therapy currently relies on liver transplantation and TTR-stabilizers (tafamidis, diflunisal). K E Y W O R D Samyloid, neuropathy, small fiber, tafamidis, transplantation, transthyretin | 93 FINSTERER ET al. eyes, the gastrointestinal tract, the kidneys, and the skin. ATTRm amyloidosis is resistant to immunotherapy. Though ATTRm-related polyneuropathy or TTR-CA may occur without affection of another tissue, a variable combination of organ affection (multiorgan involvement) is the most frequent phenotype. This review aims at summarizing and discussing previous and recent findings concerning the clinical presentation, genetic background, pathogenesis, diagnosis, treatment, and outcome of ATTRm-related polyneuropathy. | ME THODSData for this review were identified by searches of MEDLINE for references of relevant articles. Search terms applied were "transthyretin," "gene," "TTR-FAP," or "mutation," combined with "neuropathy," "hereditary," "autonomic," "small fiber neuropathy," and "polyneuropathy." Results of the search were screened for potentially relevant studies by application of inclusion and exclusion criteria for the full texts of the relevant studies. Included were randomized controlled trials (RCTs), observational studies with controls, case series, and case reports. Only original articles about humans, and published between 1966 and 2018 were included. Reviews, editorials, and letters were not considered. Reference lists of retrieved studies were checked for reports of additional studies. Websites checked for additional, particularly geneti...

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“…ESC has been evaluated against usual methods recommended to assess small fibre neuropathies including laser evoked potentials, quantitative sensory testing with determination of warm and cold thresholds and SSR (Lefaucheur et al, 2015). Sensitivity of ESC measurement to detect dysautonomia in adults has been evaluated in several diseases including diabetic peripheral neuropathy as compared to Neuropathy Impairment Score of the Lower Limbs, vibration and cold detection threshold, and transthyretin familial amyloid polyneuropathy (Selvarajah et al, 2015, Castro et al, 2016). …”

Section: Resultsmentioning

confidence: 99%