Objective
Hereditary Neuropathy with Liability to Pressure Palsies (HNPP) is caused by a heterozygous deletion of peripheral myelin protein‐22 (PMP22) gene resulting in focal sensorimotor deficits. Our lab has identified a disruption of myelin junctions in excessively permeable myelin that impairs action potential propagation. This mechanism is expected to cause fatigue in patients with HNPP. Therefore, the objective was to characterize fatigue in patients with HNPP and determine the relationship of fatigue to nerve pathology, disability, and quality of life.

Methods
Nine females with HNPP participated in a single visit that included genotyping, nerve conduction studies, neurological exam, quantitative magnetic resonance imaging, and a physical therapy exam incorporating upper and lower extremity function and survey measures of fatigue. This visit was followed by 2 weeks of ecological momentary assessment (wrist‐worn device) that captured fatigue ratings five times per day.

Results
Participants demonstrated mild neurological impairment (CMTNS: 5.7 ± 2.8), yet reported high fatigue levels (average fatigue intensity over 2 weeks: 5.9 out of 10). Higher fatigue levels were associated with poorer quality of life and more pain. Higher fatigue was associated with significantly greater distal nerve proton density changes on peripheral nerve MRI, which is in line with hyper‐permeable myelin in HNPP.

Interpretation
Fatigue is common and severe among patients with HNPP whose disabilities are minimal by conventional outcome measures. Therapeutic interventions targeting fatigue have the potential to improve quality of life and may serve as a robust outcome measure to show longitudinal changes for patients with HNPP.

Direct Link: https://doi.org/10.1002/acn3.51133

Journal: Annals of Clinical and Translational Neurology. 2020 Aug 1.

Keywords: ecological momentary assessment, fatigue, hereditary neuropathy, HNPP, myelin,

Applications: EMA,

CamNtech Reference: PD20006

Back to Search Results

UK & International customers

CamNtech Ltd.
Manor Farm
Fenstanton
Cambridgeshire
PE28 9JD, UK

US customers

CamNtech Inc.
630 Boerne Stage Airfield,
Boerne,
Texas 78006,
USA

Copyright

© 2020 CamNtech Ltd and CamNtech Inc

Company information

Registered in England No. 2221302
VAT No: GB486 3019 34

Company information

VAT No: GB486 3019 34

Privacy Policy