Hereditary transthyretin amyloidosis (ATTRv) is a rare, debilitating and fatal disease, mostly characterized by progressive axonal peripheral neuropathy. Diagnosis is still challenging and diagnostic delay in non-endemic area is about 3-4 years. The aim of this study was to arrange a clinical and electrophysiological score to select patients with axonal neuropathy that deserve screening for TTR mutation.
A compound score to screen patients with hereditary transthyretin amyloidosis / Tozza, Stefano; Severi, Daniele; Spina, Emanuele; Di Paolantonio, Andrea; Iovino, Aniello; Guglielmino, Valeria; Aruta, Francesco; Nolano, Maria; Sabatelli, Mario; Santoro, Lucio; Luigetti, Marco; Manganelli, Fiore. - In: JOURNAL OF NEUROLOGY. - ISSN 0340-5354. - 269:8(2022), pp. 4281-4287. [10.1007/s00415-022-11056-4]
A compound score to screen patients with hereditary transthyretin amyloidosis
Tozza, Stefano;Severi, Daniele;Spina, Emanuele;Iovino, Aniello;Aruta, Francesco;Nolano, Maria;Santoro, Lucio;Manganelli, Fiore
2022
Abstract
Hereditary transthyretin amyloidosis (ATTRv) is a rare, debilitating and fatal disease, mostly characterized by progressive axonal peripheral neuropathy. Diagnosis is still challenging and diagnostic delay in non-endemic area is about 3-4 years. The aim of this study was to arrange a clinical and electrophysiological score to select patients with axonal neuropathy that deserve screening for TTR mutation.| File | Dimensione | Formato | |
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