Abstract:
BACKGROUND:Diagnostic delay of hereditary transthyretin amyloidosis (ATTRv, v for variant) prevents timely treatment and, therefore, concurs to the mortality of the disease. The aim of the present study was to explore with nerve ultrasound (US) possible red flags for early diagnosis in ATTRv patients with carpal tunnel syndrome (CTS) and/or polyneuropathy and in pre-symptomatic carriers. METHODS:Patients and pre-symptomatic carriers with a TTR gene mutation were enrolled from seven Italian centers. Severity of CTS was assessed with neurophysiology and clinical evaluation. Median nerve cross-section area (CSA) was measured with US in ATTRv carriers with CTS (TTR-CTS). One thousand one hundred ninety-six idiopathic CTS were used as controls. Nerve US was also performed in several nerve trunks (median, ulnar, radial, brachial plexi, tibial, peroneal, sciatic, sural) in ATTRv patients with polyneuropathy and in pre-symptomatic carriers. RESULTS:Sixty-two subjects (34 men, 28 women, mean age 59.8 years ± 12) with TTR gene mutation were recruited. With regard to CTS, while in idiopathic CTS there was a direct correlation between CTS severity and median nerve CSA (r = 0.55, p < 0.01), in the subgroup of TTR-CTS subjects (16 subjects, 5 with bilateral CTS) CSA did not significantly correlate with CTS severity (r = - 0.473). ATTRv patients with polyneuropathy showed larger CSA than pre-symptomatic carriers in several nerve sites, more pronounced at brachial plexi (p < 0.001). CONCLUSIONS:The present study identifies nerve morphological US patterns that may help in the early diagnosis (morpho-functional dissociation of median nerve in CTS) and monitoring of pre-symptomatic TTR carriers (larger nerve CSA at proximal nerve sites, especially at brachial plexi).
journal_name
J Neuroljournal_title
Journal of neurologyauthors
Salvalaggio A,Coraci D,Cacciavillani M,Obici L,Mazzeo A,Luigetti M,Pastorelli F,Grandis M,Cavallaro T,Bisogni G,Lozza A,Gemelli C,Gentile L,Ermani M,Fabrizi GM,Plasmati R,Campagnolo M,Castellani F,Gasparotti R,Martidoi
10.1007/s00415-020-10127-8subject
Has Abstractpub_date
2021-01-01 00:00:00pages
189-198issue
1eissn
0340-5354issn
1432-1459pii
10.1007/s00415-020-10127-8journal_volume
268pub_type
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journal_title:Journal of neurology
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journal_title:Journal of neurology
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journal_title:Journal of neurology
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journal_title:Journal of neurology
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更新日期:2011-04-01 00:00:00
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journal_title:Journal of neurology
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abstract:: ...
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abstract::Multiple Sclerosis (MS) is an inflammatory disease of the Central Nervous System with multifocal areas of demyelination. Although its etiology and pathogenesis remain controversial, several lines of evidence indicate that MS is mediated by a misdirected immune response against one or several myelin proteins. The invol...
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journal_title:Journal of neurology
pub_type: 杂志文章
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journal_title:Journal of neurology
pub_type: 杂志文章
doi:10.1007/s00415-018-9095-1
更新日期:2018-12-01 00:00:00