Publications

Authors:

Luigetti, Marco; Romozzi, Marina; Bisogni, Giulia; Cardellini, Davide; Cavallaro, Tiziana; Di Paolantonio, Andrea; Fabrizi, Gian Maria; Fenu, Silvia; Gentile, Luca; Grandis, Marina; Marucci, Gianluca; Massucco, Sara; Mazzeo, Anna; Pareyson, Davide; Romano, Angela; Russo, Massimo; Schenone, Angelo; Tagliapietra, Matteo; Tozza, Stefano; Vita, Giuseppe; Sabatelli, Mario

Title:

hATTR pathology: nerve biopsy results from italian referral centers

Year:

2020

Type of item:

Articolo in Rivista

Tipologia ANVUR:

Articolo su rivista

Language:

Inglese

Format:

Elettronico

Referee:

Sì

Name of journal:

BRAIN SCIENCES

ISSN of journal:

2076-3425

N° Volume:

10

Number or Folder:

780

Page numbers:

1-12

Keyword:

Congo red; amyloid; axonal loss; hATTR; nerve biopsy; polyneuropathy

Short description of contents:

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.

Web page:

https://doi.org/10.3390/brainsci10110780

Product ID:

117125

Handle IRIS:

11562/1028274

Last Modified:

November 11, 2022

Bibliographic citation:

Luigetti, Marco; Romozzi, Marina; Bisogni, Giulia; Cardellini, Davide; Cavallaro, Tiziana; Di Paolantonio, Andrea; Fabrizi, Gian Maria; Fenu, Silvia; Gentile, Luca; Grandis, Marina; Marucci, Gianluca; Massucco, Sara; Mazzeo, Anna; Pareyson, Davide; Romano, Angela; Russo, Massimo; Schenone, Angelo; Tagliapietra, Matteo; Tozza, Stefano; Vita, Giuseppe; Sabatelli, Mario, hATTR pathology: nerve biopsy results from italian referral centers «BRAIN SCIENCES» , vol. 10 , n. 780 , 2020 , pp. 1-12

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