Highlights
- •CMT 1B with atypical characteristics and overlapping immune polyneuropathy.
- •Unique description of a MPZ p.Ser63del mutation and concomitant immune neuropathy.
- •Reversible conduction block and clinical improvement in response to treatment.
Abstract
Charcot Marie Tooth (CMT) due to myelin protein zero (MPZ) mutations, may cause a
wide variation of phenotypes, depending on the localization of the mutation within
the gene. Among the most common phenotypes are: an infantile onset disease with extremely
slow nerve conduction velocities (CMT1B) and an adult onset phenotype with nerve velocities
in the axonal range (CMT2I). We reported a patient with CMT1B (MPZ p.Ser63del mutation)
which developed an overlapping immune mediated polyradiculoneuropathy with recurrent
episodes of quadriparesis and cranial nerve involvement. We observed reversible conduction
block on serial neurophysiologic studies, non-uniform demyelination and good clinical
response to prednisone and cyclophosphamide, as evidenced by objective functional
recovery. Chronic inflammatory demyelinating polyradiculoneuropathy (CIDP)-like characteristics
have not yet been described associated with a MPZ p.Ser63del mutation. This description
adds evidence indicating that a defective structural myelin protein may predispose
peripheral nerves to immune attacks.
Keywords
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References
- A practical approach to the genetic neuropathies.Pract Neurol. 2015; 15: 187-198
- Hereditary and inflammatory neuropathies: a review of reported associations, mimics and misdiagnoses.J Neurol Neurosurg Psychiatr. 2016; 87: 1051-1060
- Coexistent hereditary and inflammatory neuropathy.Brain. 2004; 127: 193-202
- Immunological study of hereditary motor and sensory neuropathy type 1a (HMSN1a).J Neurol Neurosurg Psychiatr. 2002; 72: 230-235
- Deletion of the serine 34 codon from the major peripheral myelin protein P0 gene in Charcot-Marie-Tooth disease type 1B.Nat Genet. 1993; 5: 35-39
- Unwrapping the genes of myelin.Neuron. 1988; 1: 535-543
- Phenotypic clustering in MPZ mutations.Brain. 2004; 127: 371-384
- Steroid responsive polyneuropathy in a family with a novel myelin protein zero mutation.J Neurol Neurosurg Psychiatr. 2000; 69: 799-805
- Corticosteroid- responsive asymmetric neuropathy with a myelin protein zero gene mutation.Neurology. 2002; 59: 767-769
- European Federation of Neurological Societies/Peripheral Nerve Society guideline on management of chronic inflammatory demyelinating polyradiculoneuropathy: report of a joint task force of the European Federation of Neurological Societies and the Peripheral Nerve Society—first revision.Eur J Neurol. 2010; 17: 356-363
- Antibodies against peripheral nerve antigens in chronic inflammatory demyelinating polyradiculoneuropathy.Sci Rep. 2017; 7: 14411
- Heterozygous p0 knockout mice develop a peripheral neuropathy that resembles chronic inflammatory demyelinating polyneuropathy (CIDP).J Neuropathol Exp Neurol. 1997; 56: 811-821
Article info
Publication history
Published online: March 19, 2020
Accepted:
March 9,
2020
Received:
January 5,
2020
Identification
Copyright
© 2020 Elsevier Ltd. All rights reserved.
