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Fatigue in patients with hereditary neuropathy with liability to pressure palsies

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...

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Autores principales: Fritz, Nora E., Chen, Yongsheng, Waters, Lauren, Saba, Sadaf, Hackett, Melody, Mada, Flicia C., Li, Jun
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2020
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7448142/
https://www.ncbi.nlm.nih.gov/pubmed/32856791
http://dx.doi.org/10.1002/acn3.51133
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author Fritz, Nora E.
Chen, Yongsheng
Waters, Lauren
Saba, Sadaf
Hackett, Melody
Mada, Flicia C.
Li, Jun
author_facet Fritz, Nora E.
Chen, Yongsheng
Waters, Lauren
Saba, Sadaf
Hackett, Melody
Mada, Flicia C.
Li, Jun
author_sort Fritz, Nora E.
collection PubMed
description 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.
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spelling pubmed-74481422020-08-31 Fatigue in patients with hereditary neuropathy with liability to pressure palsies Fritz, Nora E. Chen, Yongsheng Waters, Lauren Saba, Sadaf Hackett, Melody Mada, Flicia C. Li, Jun Ann Clin Transl Neurol Research Articles 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. John Wiley and Sons Inc. 2020-07-28 /pmc/articles/PMC7448142/ /pubmed/32856791 http://dx.doi.org/10.1002/acn3.51133 Text en © 2020 The Authors. Annals of Clinical and Translational Neurology published by Wiley Periodicals LLC on behalf of American Neurological Association This is an open access article under the terms of the http://creativecommons.org/licenses/by/4.0/ License, which permits use, distribution and reproduction in any medium, provided the original work is properly cited.
spellingShingle Research Articles
Fritz, Nora E.
Chen, Yongsheng
Waters, Lauren
Saba, Sadaf
Hackett, Melody
Mada, Flicia C.
Li, Jun
Fatigue in patients with hereditary neuropathy with liability to pressure palsies
title Fatigue in patients with hereditary neuropathy with liability to pressure palsies
title_full Fatigue in patients with hereditary neuropathy with liability to pressure palsies
title_fullStr Fatigue in patients with hereditary neuropathy with liability to pressure palsies
title_full_unstemmed Fatigue in patients with hereditary neuropathy with liability to pressure palsies
title_short Fatigue in patients with hereditary neuropathy with liability to pressure palsies
title_sort fatigue in patients with hereditary neuropathy with liability to pressure palsies
topic Research Articles
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7448142/
https://www.ncbi.nlm.nih.gov/pubmed/32856791
http://dx.doi.org/10.1002/acn3.51133
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