Abstract

Case Study

Beneficial effects of a ketogenic diet in a woman with Charcot-Marie-Tooth disease

Elvira Rostanzo and Anna Maria Aloisi*

Published: 15 November, 2022 | Volume 6 - Issue 1 | Pages: 068-072

Objective: To evaluate the effects on quality of life and body composition of a Ketogenic Diet (KD) in a woman with Charcot-Marie-Tooth (CMT) disease. 
Methods: Physical (PCS) and mental (MCS) health conditions were evaluated with the SF-36 questionnaire; dual-energy x-ray absorptiometry was used to determine body composition; parameters were determined at baseline and after 12 weeks of KD.
Results: At baseline PCS and MCS were 20.6 and 20.7 respectively with 37.9% fat mass. After 12 weeks SF-36 values significantly improved: PCS 55 and MCS 66.1 with 33.9% fat mass. 
Conclusion: KD improved the patient’s quality of life and decreased fat mass. Further studies will be needed to better elucidate the beneficial effects of KD among people with CMT.

Read Full Article HTML DOI: 10.29328/journal.afns.1001040 Cite this Article Read Full Article PDF

Keywords:

Ketogenic diet; Charcot-Marie-Tooth disease; Ketone bodies; KD; Neuropathy

References

  1. Li RJ, Liu Y, Liu HQ, Li J. Ketogenic diets and protective mechanisms in epilepsy, metabolic disorders, cancer, neuronal loss, and muscle and nerve degeneration. J Food Biochem. 2020 Mar;44(3):e13140. doi: 10.1111/jfbc.13140. Epub 2020 Jan 14. PMID: 31943235.
  2. Rostanzo E, Marchetti M, Casini I, Aloisi AM. Very-Low-Calorie Ketogenic Diet: A Potential Treatment for Binge Eating and Food Addiction Symptoms in Women. A Pilot Study. Int J Environ Res Public Health. 2021 Dec 4;18(23):12802. doi: 10.3390/ijerph182312802. PMID: 34886528; PMCID: PMC8657275.
  3. Cooper MA, Menta BW, Perez-Sanchez C, Jack MM, Khan ZW, Ryals JM, Winter M, Wright DE. A ketogenic diet reduces metabolic syndrome-induced allodynia and promotes peripheral nerve growth in mice. Exp Neurol. 2018 Aug;306:149-157. doi: 10.1016/j.expneurol.2018.05.011. Epub 2018 May 17. PMID: 29763602; PMCID: PMC5994385.
  4. Callaghan BC, Gao L, Li Y, Zhou X, Reynolds E, Banerjee M, Pop-Busui R, Feldman EL, Ji L. Diabetes and obesity are the main metabolic drivers of peripheral neuropathy. Ann Clin Transl Neurol. 2018 Feb 14;5(4):397-405. doi: 10.1002/acn3.531. PMID: 29687018; PMCID: PMC5899909.
  5. Cooper MA, McCoin C, Pei D, Thyfault JP, Koestler D, Wright DE. Reduced mitochondrial reactive oxygen species production in peripheral nerves of mice fed a ketogenic diet. Exp Physiol. 2018 Sep;103(9):1206-1212. doi: 10.1113/EP087083. Epub 2018 Aug 8. PMID: 30088302; PMCID: PMC6119112.
  6. Espinós C, Calpena E, Martínez-Rubio D, Lupo V. Autosomal Recessive Charcot-Marie-Tooth Neuropathy. [book auth.] Ahmad S.I. (eds). Neurodegenerative Diseases. Advances in Experimental Medicine and Biology, 2012; New York, NY. : Springer.
  7. Jani-Acsadi A, Ounpuu S, Pierz K, Acsadi G. Pediatric Charcot-Marie-Tooth disease. Pediatr Clin North Am. 2015 Jun;62(3):767-86. doi: 10.1016/j.pcl.2015.03.012. Epub 2015 Apr 15. PMID: 26022174.
  8. Padua L, Aprile I, Cavallaro T, Commodari I, La Torre G, Pareyson D, Quattrone A, Rizzuto N, Vita G, Tonali P, Schenone A; Italian CMT QoL Study Group. Variables influencing quality of life and disability in Charcot Marie Tooth (CMT) patients: Italian multicentre study. Neurol Sci. 2006 Dec;27(6):417-23. doi: 10.1007/s10072-006-0722-8. PMID: 17205227.
  9. Redmond AC, Burns J, Ouvrier RA. Factors that influence health-related quality of life in Australian adults with Charcot-Marie-Tooth disease. Neuromuscul Disord. 2008 Aug;18(8):619-25. doi: 10.1016/j.nmd.2008.05.015. Epub 2008 Jul 24. PMID: 18656353.
  10. Hackett D, Roberts-Clarke D, Jain N, Mavros Y, Wilson GC, Halaki M, Burns J, Nicholson G, Fiatarone Singh M, Fornusek C. Body composition and its association with physical performance, quality of life, and clinical indictors in Charcot-Marie-Tooth disease: a pilot study. Disabil Rehabil. 2019 Feb;41(4):405-412. doi: 10.1080/09638288.2017.1395083. Epub 2017 Nov 2. PMID: 29096547.
  11. Casasnovas C, Cano LM, Albertí A, Céspedes M, Rigo G. Charcot-Marie-tooth disease. Foot Ankle Spec. 2008 Dec;1(6):350-4. doi: 10.1177/1938640008326247. Epub 2008 Oct 22. PMID: 19825739.
  12. Banchs I, Casasnovas C, Albertí A, De Jorge L, Povedano M, Montero J, Martínez-Matos JA, Volpini V. Diagnosis of Charcot-Marie-Tooth disease. J Biomed Biotechnol. 2009;2009:985415. doi: 10.1155/2009/985415. Epub 2009 Oct 8. PMID: 19826499; PMCID: PMC2760395.
  13. Sahin-Calapoglu N, Tan M, Soyoz M, Calapoglu M, Ozcelik N. Novel GDAP1 mutation in a Turkish family with CMT2K (CMT2K with novel GDAP1 mutation). Neuromolecular Med. 2009;11(2):106-13. doi: 10.1007/s12017-009-8062-5. Epub 2009 Apr 19. PMID: 19381883.
  14. Noack R, Frede S, Albrecht P, Henke N, Pfeiffer A, Knoll K, Dehmel T, Meyer Zu Hörste G, Stettner M, Kieseier BC, Summer H, Golz S, Kochanski A, Wiedau-Pazos M, Arnold S, Lewerenz J, Methner A. Charcot-Marie-Tooth disease CMT4A: GDAP1 increases cellular glutathione and the mitochondrial membrane potential. Hum Mol Genet. 2012 Jan 1;21(1):150-62. doi: 10.1093/hmg/ddr450. Epub 2011 Sep 28. PMID: 21965300.
  15. Baxter RV, Ben Othmane K, Rochelle JM, Stajich JE, Hulette C, Dew-Knight S, Hentati F, Ben Hamida M, Bel S, Stenger JE, Gilbert JR, Pericak-Vance MA, Vance JM. Ganglioside-induced differentiation-associated protein-1 is mutant in Charcot-Marie-Tooth disease type 4A/8q21. Nat Genet. 2002 Jan;30(1):21-2. doi: 10.1038/ng796. Epub 2001 Dec 17. PMID: 11743579.
  16. Ammar N, Nelis E, Merlini L, Barisić N, Amouri R, Ceuterick C, Martin JJ, Timmerman V, Hentati F, De Jonghe P. Identification of novel GDAP1 mutations causing autosomal recessive Charcot-Marie-Tooth disease. Neuromuscul Disord. 2003 Nov;13(9):720-8. doi: 10.1016/s0960-8966(03)00093-2. PMID: 14561495.
  17. Stojkovic T, Latour P, Viet G, de Seze J, Hurtevent JF, Vandenberghe A, Vermersch P. Vocal cord and diaphragm paralysis, as clinical features of a French family with autosomal recessive Charcot-Marie-Tooth disease, associated with a new mutation in the GDAP1 gene. Neuromuscul Disord. 2004 Apr;14(4):261-4. doi: 10.1016/j.nmd.2004.01.003. PMID: 15019704.
  18. Pisciotta C, Calabrese D, Santoro L, Tramacere I, Manganelli F, Fabrizi GM, Schenone A, Cavallaro T, Grandis M, Previtali SC, Allegri I, Padua L, Pazzaglia C, Saveri P, Quattrone A, Valentino P, Tozza S, Gentile L, Russo M, Mazzeo A, Trapasso MC, Parazzini F, Vita G, Pareyson D; Italian CMT Network. Pregnancy in Charcot-Marie-Tooth disease: Data from the Italian CMT national registry. Neurology. 2020 Dec 15;95(24):e3180-e3189. doi: 10.1212/WNL.0000000000010860. Epub 2020 Sep 14. PMID: 32928981; PMCID: PMC7836663.
  19. Apolone G, Mosconi P. The Italian SF-36 Health Survey: translation, validation and norming. J Clin Epidemiol. 1998 Nov;51(11):1025-36. doi: 10.1016/s0895-4356(98)00094-8. PMID: 9817120.
  20. Ware JE Jr, Sherbourne CD. The MOS 36-item short-form health survey (SF-36). I. Conceptual framework and item selection. Med Care. 1992 Jun;30(6):473-83. PMID: 1593914.
  21. Nuttall FQ. Body Mass Index: Obesity, BMI, and Health: A Critical Review. Nutr Today. 2015 May;50(3):117-128. doi: 10.1097/NT.0000000000000092. Epub 2015 Apr 7. PMID: 27340299; PMCID: PMC4890841.
  22. De Lorenzo A, Martinoli R, Vaia F, Di Renzo L. Normal weight obese (NWO) women: an evaluation of a candidate new syndrome. Nutr Metab Cardiovasc Dis. 2006 Dec;16(8):513-23. doi: 10.1016/j.numecd.2005.10.010. Epub 2006 Mar 3. PMID: 17126766.
  23. Brochu M, Tchernof A, Turner AN, Ades PA, Poehlman ET. Is there a threshold of visceral fat loss that improves the metabolic profile in obese postmenopausal women? Metabolism. 2003 May;52(5):599-604. doi: 10.1053/meta.2003.50095. PMID: 12759890.
  24. Baumgartner RN, Koehler KM, Gallagher D, Romero L, Heymsfield SB, Ross RR, Garry PJ, Lindeman RD. Epidemiology of sarcopenia among the elderly in New Mexico. Am J Epidemiol. 1998 Apr 15;147(8):755-63. doi: 10.1093/oxfordjournals.aje.a009520. Erratum in: Am J Epidemiol 1999 Jun 15;149(12):1161. PMID: 9554417.
  25. Christiansen T, Paulsen SK, Bruun JM, Pedersen SB, Richelsen B. Exercise training versus diet-induced weight-loss on metabolic risk factors and inflammatory markers in obese subjects: a 12-week randomized intervention study. Am J Physiol Endocrinol Metab. 2010 Apr;298(4):E824-31. doi: 10.1152/ajpendo.00574.2009. Epub 2010 Jan 19. PMID: 20086201.
  26. Koh S, Dupuis N, Auvin S. Ketogenic diet and Neuroinflammation. Epilepsy Res. 2020 Nov;167:106454. doi: 10.1016/j.eplepsyres.2020.106454. Epub 2020 Sep 6. PMID: 32987244.
  27. Gough SM, Casella A, Ortega KJ, Hackam AS. Neuroprotection by the Ketogenic Diet: Evidence and Controversies. Front Nutr. 2021 Nov 23;8:782657. doi: 10.3389/fnut.2021.782657. PMID: 34888340; PMCID: PMC8650112.
  28. Zhou Y, Bazick H, Miles JR, Fethiere AI, Salihi MOA, Fazio S, Tavori H, Notterpek L. A neutral lipid-enriched diet improves myelination and alleviates peripheral nerve pathology in neuropathic mice. Exp Neurol. 2019 Nov;321:113031. doi: 10.1016/j.expneurol.2019.113031. Epub 2019 Aug 3. PMID: 31386828.
  29. Bedogni G, Merlini L, Ballestrazzi A, Severi S, Battistini N. Multifrequency bioelectric impedance measurements for predicting body water compartments in duchenne muscular dystrophy. Neuromuscul Disord. 1996 Jan;6(1):55-60. doi: 10.1016/0960-8966(95)00015-1. PMID: 8845719.
  30. Messina C, Albano D, Gitto S, Tofanelli L, Bazzocchi A, Ulivieri FM, Guglielmi G, Sconfienza LM. Body composition with dual energy X-ray absorptiometry: from basics to new tools. Quant Imaging Med Surg. 2020 Aug;10(8):1687-1698. doi: 10.21037/qims.2020.03.02. PMID: 32742961; PMCID: PMC7378094.
  31. Reilly MM, Murphy SM, Laurá M. Charcot-Marie-Tooth disease. J Peripher Nerv Syst. 2011 Mar;16(1):1-14. doi: 10.1111/j.1529-8027.2011.00324.x. PMID: 21504497.
  32. Pareyson D, Marchesi C. Diagnosis, natural history, and management of Charcot-Marie-Tooth disease. Lancet Neurol. 2009 Jul;8(7):654-67. doi: 10.1016/S1474-4422(09)70110-3. PMID: 19539237.

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