What is the pathophysiology of Charcot-Marie-Tooth (CMT) disease?

Answer

Traditionally, CMT pathophysiology has been categorized into 2 processes: a predominant demyelinating process resulting in low conduction velocities (CMT1) and a predominant axonal process resulting in low potential amplitudes (CMT2). However, even for CMT1 a heated debate has focused on the relative contribution of axonal versus demyelinative damage to the disease manifestations and progression.

In some hereditary neuropathies discussed below, focal asymmetric features (eg, hereditary neuropathy with liability to pressure palsy [HNPP]) predominate; in others (eg, certain cases of Charcot-Marie-Tooth disease type 1A (CMT1A) and inherited brachial plexus neuropathy [IBPN]/hereditary neuralgic amyotrophy [HNA]), proximal weakness predominates. Typically, a predilection exists for distal limbs as the site of disease onset and more severe symptoms and signs. Furthermore, while significant variation in nerve conduction velocities exists between and within families, this parameter does not predict severity, with the exception of the very low (ie, < 5 m/s) velocities observed in Dejerine-Sottas syndrome (DSS) and congenital hypomyelination neuropathy (CHN).

Axonal degeneration is a prediction of disability. This suggests that, in most cases, axonal damage is the root cause of the neuropathy, not demyelination.^[6]However, the gene mutations responsible for the different forms of CMT1 are clearly myelin genes. Through mechanisms that at present can only be speculated about, myelin disturbances result in axonal damage. This is not surprising given the strong evidence for interaction between myelin and axon gene expression in development and after experimental nerve lesions. On the other hand, axonal damage can result in secondary demyelination.

Myelinating Schwann cells form a myelin sheath around a single axon and express high levels of myelin-related proteins and messenger RNA (mRNA). Axonal degeneration leads to Wallerian degeneration, in which myelin sheaths are phagocytosed, previously myelinating Schwann cells dedifferentiate, and mRNA expression is down-regulated. When Schwann cells re-ensheathe axons, levels of proteins or mRNA, or both, increase. Myelin genes and products affected in this manner include myelin protein zero (MPZ, P0), peripheral myelin protein 22 (PMP22), connexin 32 (CX32, Cx32), myelin-associated glycoprotein (MAG, Mag), myelin basic protein (MBP, Mbp), early growth response gene 2 (EGR2), periaxin (PRX), and others.

Whether Schwann cells differentiate into myelinating or nonmyelinating (a misnomer because such Schwann cells myelinate > 1 axon) phenotypes depends on axonal characteristics, which are determined at least in part by transcription factors such as Oct-6 (POU domain family) and EGR2.

Mutations in structural myelin genes or the transcription factors responsible for their expression lead to demyelination (ie, PMP22, P0, CX32, EGR2). P0, linked to Charcot-Marie-Tooth disease type 1B (CMT1B), is the most abundant protein in compact myelin and is a cell adhesion molecule (CAM). PMP22, linked to CMT1A, is a protein of unclear function that has features of both a channel protein and a CAM. Schwann cells also express Cx32, linked to X-linked Charcot-Marie-Tooth Disease type 1 (CMTX1), which belongs to the connexin family. EGR2 is a transcription factor linked to Charcot-Marie-Tooth disease type 1D (CMT1D).

More recently, mutations in the LITAF (lipopolysaccharide-induced tumor necrosis factor-alpha) complex were found to account for CMT1C; these mutations are involved in the proliferation and apoptosis in Schwann cells carrying PMP22 alterations.^[7]

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Media Gallery

Light microscopy of tomaculae, which are typical of hereditary neuralgic amyotrophy (HNA) and hereditary neuropathy with predisposition to pressure palsies (HNPP) but are also associated with certain MPZ mutations in Charcot-Marie-Tooth disease type 1B (CMT1B). (A) Semithin cross-section shows myelinated nerve fiber loss with scattered onion bulbs (arrowheads). Several myelinated fibers have a thick myelin sheath and an irregular contour (large arrow). (B) Semithin longitudinal section demonstrating tomaculae in continuity with myelinated fibers. The myelin sheath is inappropriately thin, probably as a result of segmental remyelination or hypomyelination. (C) Teased myelinated nerve fiber containing tomaculae that consist of globular expansions of myelin measuring 30-50 µm in length.

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Author

Francisco de Assis Aquino Gondim, MD, MSc, PhD, FAAN Professor Adjunto of Neurology and Clinical Skills, Department of Internal Medicine, Universidade Federal do Ceará, Brazil

Francisco de Assis Aquino Gondim, MD, MSc, PhD, FAAN is a member of the following medical societies: American Academy of Neurology, American Association of Neuromuscular and Electrodiagnostic Medicine, International Parkinson and Movement Disorder Society

Disclosure: Serve(d) as a director, officer, partner, employee, advisor, consultant or trustee for: Consultant for Pfizer<br/>Serve(d) as a speaker or a member of a speakers bureau for: Speaker for Shire and BSL Beringer<br/>Received travel grants from for: Aché, Biogen, Genzyme, Ipsen, Novartis, Baxter, Teva, Pfizer.

Coauthor(s)

Florian P Thomas, MD, PhD, MA, MS Chair, Neuroscience Institute and Department of Neurology, Director, Multiple Sclerosis Center and Hereditary Neuropathy Centers, Hackensack University Medical Center; Founding Chair and Professor, Department of Neurology, Hackensack Meridian School of Medicine at Seton Hall University; Professor Emeritus, Department of Neurology, St Louis University School of Medicine; Editor-in-Chief, Journal of Spinal Cord Medicine

Florian P Thomas, MD, PhD, MA, MS is a member of the following medical societies: Academy of Spinal Cord Injury Professionals, American Academy of Neurology, American Neurological Association, Consortium of Multiple Sclerosis Centers, National Multiple Sclerosis Society, Sigma Xi

Disclosure: Nothing to disclose.

Specialty Editor Board

Francisco Talavera, PharmD, PhD Adjunct Assistant Professor, University of Nebraska Medical Center College of Pharmacy; Editor-in-Chief, Medscape Drug Reference

Disclosure: Received salary from Medscape for employment. for: Medscape.

Neil A Busis, MD Chief of Neurology and Director of Neurodiagnostic Laboratory, UPMC Shadyside; Clinical Professor of Neurology and Director of Community Neurology, Department of Neurology, University of Pittsburgh Physicians

Neil A Busis, MD is a member of the following medical societies: American Academy of Neurology, American Association of Neuromuscular and Electrodiagnostic Medicine

Disclosure: Serve(d) as a director, officer, partner, employee, advisor, consultant or trustee for: American Academy of Neurology<br/>Serve(d) as a speaker or a member of a speakers bureau for: American Academy of Neurology<br/>Received income in an amount equal to or greater than $250 from: American Academy of Neurology.

Chief Editor

Nicholas Lorenzo, MD, MHA, CPE Co-Founder and Former Chief Publishing Officer, eMedicine and eMedicine Health, Founding Editor-in-Chief, eMedicine Neurology; Founder and Former Chairman and CEO, Pearlsreview; Founder and CEO/CMO, PHLT Consultants; Chief Medical Officer, MeMD Inc

Nicholas Lorenzo, MD, MHA, CPE is a member of the following medical societies: Alpha Omega Alpha, American Academy of Neurology, American Association for Physician Leadership

Disclosure: Nothing to disclose.

Additional Contributors

Paul E Barkhaus, MD, FAAN, FAANEM Professor of Neurology and Physical Medicine and Rehabilitation, Chief, Neuromuscular and Autonomic Disorders Program, Director, ALS Program, Department of Neurology, Medical College of Wisconsin

Paul E Barkhaus, MD, FAAN, FAANEM is a member of the following medical societies: American Academy of Neurology, American Association of Neuromuscular and Electrodiagnostic Medicine, American Clinical Neurophysiology Society, American Neurological Association

Disclosure: Nothing to disclose.

Gisele Oliveira, MD Resident Physician, Department of Neurology, St Louis University School of Medicine

Gisele Oliveira, MD is a member of the following medical societies: American Academy of Neurology

Disclosure: Nothing to disclose.

Acknowledgements

Dr. FAA Gondim has received grants and research scholarships from the Brazilian Research Council (CNPq) to conduct research activities on peripheral neuropathies, including CMT disease.

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