Length-dependent MRI of hereditary neuropathy with liability to pressure palsies.

Department

Neurobiology

Document Type

Article

Abstract

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

RESULTS: F

INTERPRETATION: Despite the multifocal nature of the HNPP phenotype, muscle F

Publication Date

1-1-2020

Publication Title

Ann Clin Transl Neurol

ISSN

2328-9503

Volume

7

Issue

1

First Page

15

Last Page

25

PubMed ID

31872979

Digital Object Identifier (DOI)

10.1002/acn3.50953

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