Sural nerve biopsy in peripheral neuropathies: 30-year experience from a single center

Luigetti, Marco; Paolantonio, Andrea Di; Bisogni, Giulia; Romano, Ângela; Conte, Amelia; Barbato, Francesco; Grande, Alessandra Del; Madia, Francesca; Rossini, Paolo Maria; Lauretti, Liverana; Sabatelli, Mario

doi:10.1007/s10072-019-04082-0

Cited by 16 publications

(14 citation statements)

References 35 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…Axonal damage is relevant for disease progression and outcome, which has been demonstrated for autoimmune disease of the peripheral nervous system [4,9–12]. Axonal loss was evident in 78.9% of all sural nerve biopsies analysed in patients with suspected autoimmune neuropathy [12]. In a study of 20 patients with multifocal motor neuropathy, axonal loss detected by needle EMG (and not conduction block) was the prominent independent variable correlating with the degree of weakness [11].…”

Section: Discussionmentioning

confidence: 99%

Pathological spontaneous activity as a prognostic marker in chronic inflammatory demyelinating polyneuropathy

Grüter

Motte

Fisse

et al. 2020

Euro J of Neurology

View full text Add to dashboard Cite

Background and purpose Monitoring of the disease course of patients with chronic inflammatory demyelinating polyneuropathy (CIDP) remains challenging because nerve conduction studies do not adequately correlate with functional disability. The prognostic value of pathological spontaneous activity (PSA) in needle electromyography (EMG) in different CIDP subgroups in a longitudinal context has, to date, not been analysed. We aimed to determine whether PSA was a prognostic marker or a marker of disease activity in a cohort of patients with CIDP. Methods A total of 127 patients with CIDP spectrum disorder were retrospectively analysed over 57 ± 47 months regarding the occurrence of PSA (fibrillations and positive sharp waves). The presence of PSA at diagnosis, newly occurring PSA, and continuously present PSA were longitudinally correlated with clinical disability using the Inflammatory Neuropathy Cause and Treatment Overall Disability Sum Score (INCAT‐ODSS) and CIDP subtype. Results Pathological spontaneous activity occurred in 49.6% of all CIDP patients at first diagnosis. More frequent evidence of PSA was significantly associated with a higher INCAT‐ODSS at the last follow‐up. Continuous and new occurrence of PSA were associated with higher degree of disability at the last follow‐up. The majority of patients with sustained evidence of PSA were characterized by an atypical phenotype, higher degree of disability, and the need for escalation of treatment. Conclusions Pathological spontaneous activity was associated with a higher degree of disability and occurred more frequently in atypical CIDP variants according to the longitudinal data of a large cohort of patients with CIDP. Our results showed that EMG examination was an adequate marker for disease progression and should be evaluated during the disease course.

show abstract

Section: Discussionmentioning

confidence: 99%

Pathological spontaneous activity as a prognostic marker in chronic inflammatory demyelinating polyneuropathy

Grüter

Motte

Fisse

et al. 2020

Euro J of Neurology

View full text Add to dashboard Cite

show abstract

“…A diagnosis of amyloid peripheral neuropathy is often delayed because the clinical features may mimic many other neuropathies. Overall, amyloidosis is a relatively rare cause of peripheral neuropathy -in the Mayo Clinic peripheral nerve laboratory, amyloid peripheral neuropathy accounted for only 3% of cases [81][82][83].…”

Section: Peripheral Nerves and Autonomic Systemmentioning

confidence: 99%

The Pathology of Amyloidosis in Classification: A Review

2020

View full text Add to dashboard Cite

Background: The amyloidoses are a rare and heterogeneous group of disorders that are characterized by the deposition of abnormally folded proteins in tissues ultimately leading to organ damage. The deposits are mainly extracellular and are recognizable by their affinity for Congo red and their yellow-green birefringence under polarized light. Current classification of amyloid in medical practice is based on the amyloid protein type. To date, 36 proteins have been identified as being amyloidogenic in humans. Summary: in clinical practice, it is critical to distinguish between treatable versus non-treatable amyloidoses. Moreover, amyloidoses with a genetic component must be distinguished from the sporadic types and systemic amyloidoses must be distinguished from the localized forms. Among the systemic amyloidoses, AL continues to be the most common amyloid diagnosis in the developed world; other clinically significant types include AA, ALECT2, and ATTR. The latter is emerging as an underdiagnosed type in both the hereditary and wild-type setting. Other hereditary amyloidoses include AFib, several amyloidoses derived from apolipoproteins, AGel, ALys, etc. In a dialysis setting, systemic amyloid derived from β 2 microglobulin (Aβ2M) should be considered, although a very rare hereditary variant has also been reported; several amyloido-ses may be typically associated with aging and several iatrogenic types have also emerged. Determination of the amyloid protein type is imperative before specific therapy can be implemented and the current methods are briefly summarized. A brief overview of the target organ involvement by amyloid type is also included. Key Messages: (1) Early diagnosis of amyloidosis continues to pose a significant challenge and requires the participation of many clinical and laboratory specialties. (2) Determination of the protein type is imperative before specific therapy can be implemented. (3) While mass spectrometry has emerged as the preferred method of amyloid typing, careful application of immune methods is still clinically useful but caution and experience, as well as awareness of the limitations of each method, are necessary in their interpretation. (4) While the spectrum of amyloidoses continues to expand, it is critical to distinguish between those that are currently treatable versus those that are untreatable and avoid causing harm by inappropriate treatment.

show abstract

“…Sural nerve biopsy was performed after obtaining informed consent, as previously described. Light and electron microscopy preparations, as well as teased fiber analysis, were performed according to standard methods [20]. Immunohistochemistry was performed in selected cases (see below).…”

Section: Nerve Biopsymentioning

confidence: 99%

hATTR Pathology: Nerve Biopsy Results from Italian Referral Centers

et al. 2020

Self Cite

View full text Add to dashboard Cite

Pathological evidence of amyloid on nerve biopsy has been the gold standard for diagnosis in hereditary transthyretin amyloidosis polyneuropathy (hATTR-PN) for a long time. In this article, we reviewed the pathological findings of a large series of sural nerve biopsies from a cohort of hATTR-PN patients, collected by different Italian referral centers. Patients and Methods: We reviewed clinical and pathological data from hATTR-PN patients, diagnosed and followed in five Italian referral centers for peripheral neuropathies. Diagnosis was formulated after a positive genetic test for transthyretin (TTR) mutations. Sural nerve biopsy was performed according to standard protocols. Results: Sixty-nine sural nerve biopsies from hATTR-PN patients were examined. Congo red positive deposits were found in 73% of cases. Only the Phe64Leu mutation failed to show amyloid deposits in a high percentage of biopsies (54%), as already described. Unusual pathological findings, such as myelin abnormalities or inflammatory infiltrates, were detected in occasional cases. Conclusions: Even if no longer indicated to confirm hATTR-PN clinical suspicion, nerve biopsy remains, in expert hands, a rapid and inexpensive tool to detect amyloid deposition. In Italy, clinicians should be aware that a negative biopsy does not exclude hATTR-PN, particularly for Phe64Leu, one of the most frequent mutations in this country.

show abstract

Sural nerve biopsy in peripheral neuropathies: 30-year experience from a single center

Cited by 16 publications

References 35 publications

Pathological spontaneous activity as a prognostic marker in chronic inflammatory demyelinating polyneuropathy

Pathological spontaneous activity as a prognostic marker in chronic inflammatory demyelinating polyneuropathy

The Pathology of Amyloidosis in Classification: A Review

hATTR Pathology: Nerve Biopsy Results from Italian Referral Centers

Contact Info

Product

Resources

About