Quantification of muscle involvement in familial amyloid polyneuropathy using MRI

• DOI: 10.1111/ene.15970
• Publication Date: 2023-07-09T17:52:56Z
• Authors: Clémence Durelle; Emilien Delmont; Constance Michel; Amira Trabelsi; Marc‐Adrien Hostin; Augustin Ogier; David Bendahan; Shahram Attarian
• Keywords: Amyloid polyneuropathy

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 symptomatic asymptomatic TTR-FAP using magnetic resonance imaging. Secondarily, assess correlations clinical electrophysiological variables.A total 39 confirmed mutation the TTR gene (25 14 asymptomatic) healthy volunteers were included. A 16 manually delineated nondominant lower limb from T1-weighted anatomical images. The corresponding masks propagated on MTR FF maps. Detailed neurological examinations conducted each group.The was decreased (42.6 AU; p = 0.001) elevated (14%; 0.003) limbs group, preferential posterior lateral involvement. quantified gastrocnemius lateralis muscle (11%; 0.021). significantly correlated duration (r 0.49, 0.015), neuropathy impairment score for 0.42, 0.041), Overall Neuropathy Limitations Scale 0.013), disability 0.57, 0.03) sum compound action potential 0.52, 0.009). strongly 0.78, < 0.0001), few an within normal range had reduced MTR.These observations suggest that could be interesting biomarkers TTR-FAP. patients, good indicator transition form disease. early biomarker alterations.