Quantification of muscle involvement in familial amyloid polyneuropathy using MRI.

Details

Serval ID
serval:BIB_CDCDDE09B6BE
Type
Article: article from journal or magazin.
Collection
Publications
Institution
Title
Quantification of muscle involvement in familial amyloid polyneuropathy using MRI.
Journal
European journal of neurology
Author(s)
Durelle C., Delmont E., Michel C., Trabelsi A., Hostin M.A., Ogier A., Bendahan D., Attarian S.
ISSN
1468-1331 (Electronic)
ISSN-L
1351-5101
Publication state
Published
Issued date
10/2023
Peer-reviewed
Oui
Volume
30
Number
10
Pages
3286-3295
Language
english
Notes
Publication types: Journal Article ; Research Support, Non-U.S. Gov't
Publication Status: ppublish
Abstract
Transthyretin familial amyloid polyneuropathy (TTR-FAP) is a rare genetic disease with autosomal-dominant inheritance. In this study, we aimed to quantify fatty infiltration (fat fraction [FF]) and magnetization transfer ratio (MTR) in individual muscles of patients with symptomatic and asymptomatic TTR-FAP using magnetic resonance imaging. Secondarily, we aimed to assess correlations with clinical and electrophysiological variables.
A total of 39 patients with a confirmed mutation in the TTR gene (25 symptomatic and 14 asymptomatic) and 14 healthy volunteers were included. A total of 16 muscles were manually delineated in the nondominant lower limb from T1-weighted anatomical images. The corresponding masks were propagated on the MTR and FF maps. Detailed neurological and electrophysiological examinations were conducted in each group.
The MTR was decreased (42.6 AU; p = 0.001) and FF was elevated (14%; p = 0.003) in the lower limbs of the symptomatic group, with preferential posterior and lateral involvement. In the asymptomatic group, elevated FF was quantified in the gastrocnemius lateralis muscle (11%; p = 0.021). FF was significantly correlated with disease duration (r = 0.49, p = 0.015), neuropathy impairment score for the lower limb (r = 0.42, p = 0.041), Overall Neuropathy Limitations Scale score (r = 0.49, p = 0.013), polyneuropathy disability score (r = 0.57, p = 0.03) and the sum of compound muscle action potential (r = 0.52, p = 0.009). MTR was strongly correlated to FF (r = 0.78, p < 0.0001), and a few muscles with an FF within the normal range had a reduced MTR.
These observations suggest that FF and MTR could be interesting biomarkers in TTR-FAP. In asymptomatic patients, FF in the gastrocnemius lateralis muscle could be a good indicator of the transition from an asymptomatic to a symptomatic form of the disease. MTR could be an early biomarker of muscle alterations.
Keywords
Humans, Amyloid Neuropathies, Familial/genetics, Magnetic Resonance Imaging, Polyneuropathies, Muscle, Skeletal/diagnostic imaging, Muscle, Skeletal/pathology, biomarker, familial amyloid polyneuropathy, quantitative MRI
Pubmed
Web of science
Create date
13/07/2023 13:19
Last modification date
13/12/2023 7:12
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