Open AccessLength‐dependent MRI of hereditary neuropathy with liability to pressure palsies
Author(s) -
Pridmore Michael,
Castoro Ryan,
McCollum Megan Simmons,
Kang Hakmook,
Li Jun,
Dortch Richard
Publication year - 2020
Publication title -
annals of clinical and translational neurology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.824
H-Index - 42
ISSN - 2328-9503
DOI - 10.1002/acn3.50953
Subject(s) - medicine , denervation , sciatic nerve , tibial nerve , axonal degeneration , myelin , magnetic resonance imaging , pathology , anatomy , radiology , central nervous system , stimulation
Objective Hereditary neuropathy with liability to pressure palsies (HNPP) is caused by heterozygous deletion of the peripheral myelin protein 22 (PMP22) gene. Patients with HNPP present multifocal, reversible sensory/motor deficits due to increased susceptibility to mechanical pressure. Additionally, age‐dependent axonal degeneration is reported. We hypothesize that length‐dependent axonal loss can be revealed by MRI, irrespective of the multifocal phenotype in HNPP. Methods Nerve and muscle MRI data were acquired in the proximal and distal leg of patients with HNPP ( n = 10) and matched controls ( n = 7). More specifically, nerve magnetization transfer ratios (MTR) were evaluated to assay proximal‐to‐distal gradients in nerve degeneration, while intramuscular fat percentages ( F per ) were evaluated to assay muscle fat replacement following denervation. Neurological disabilities were assessed via the Charcot‐Marie‐Tooth neuropathy score (CMTNS) for correlation with MRI. Results F per values were elevated in HNPP proximal muscle (9.8 ± 2.2%, P = 0.01) compared to controls (6.9 ± 1.0%). We observed this same elevation of HNPP distal muscles (10.5 ± 2.5%, P < 0.01) relative to controls (6.3 ± 1.1%). Additionally, the amplitude of the proximal‐to‐distal gradient in F per was more significant in HNPP patients than controls ( P < 0.01), suggesting length‐dependent axonal loss. In contrast, nerve MTR values were similar between HNPP subjects (sciatic/tibial nerves = 39.4 ± 2.0/34.2 ± 2.5%) and controls (sciatic/tibial nerves = 37.6 ± 3.8/35.5 ± 1.2%). Proximal muscle F per values were related to CMTNS ( r = 0.69, P = 0.03), while distal muscle F per and sciatic/tibial nerve MTR values were not related to disability. Interpretation Despite the multifocal nature of the HNPP phenotype, muscle F per measurements relate to disability and exhibit a proximal‐to‐distal gradient consistent with length‐dependent axonal loss, suggesting that F per may be a viable biomarker of disease progression in HNPP.