BibTex format

author = {Ginsberg, L and Malik, O and Kenton, AR and Sharp, D and Muddle, JR and Davis, MB and Winer, JB and Orrell, RW and King, RHM},
doi = {brain/awh017},
journal = {Brain},
pages = {193--202},
title = {Coexistent hereditary and inflammatory neuropathy.},
url = {},
volume = {127},
year = {2004}

RIS format (EndNote, RefMan)

AB - Classically, the course of Charcot-Marie-Tooth (CMT) disease is gradually progressive. We describe eight atypical patients who developed acute or subacute deterioration. Seven of these had genetically proven CMT disease type 1A (CMT1A) due to chromosome 17p11.2-12 duplication, and one had X-linked disease (CMTX) due to a mutation in the GJB1 gene. In this group there was sufficient clinical, electrophysiological and neuropathological information to indicate a diagnosis of a superimposed inflammatory polyneuropathy. The age range of the patients was 18-69 years, with a mean of 39 years. A family history of a similar neuropathic condition was present in only four patients. All eight had an acute or subacute deterioration following a long asymptomatic or stable period. Seven had neuropathic pain or prominent positive sensory symptoms. Nerve biopsy demonstrated excess lymphocytic infiltration in all eight patients. Five patients were treated with steroids and/or intravenous immunoglobulin, with variable positive response; three patients received no immunomodulatory treatment. Inflammatory neuropathy has previously been recognized in patients with hereditary neuropathy, with uncharacterized genetic defects and with CMT1B. We present detailed assessments of patients with CMT1A and CMTX, including nerve biopsy, and conclude that coexistent inflammatory neuropathy is not genotype-specific in hereditary motor and sensory neuropathy. Although this was not a formal epidemiological study, estimates of the prevalence of CMT disease and chronic inflammatory demyelinating polyneuropathy indicate that the association is more frequent than would be expected by chance. This has implications for understanding the pathogenesis of inflammatory neuropathies and raises important considerations in the management of patients with hereditary neuropathies. If a patient with CMT disease experiences an acute or subacute deterioration in clinical condition, treatment of a coexistent inflammatory
AU - Ginsberg,L
AU - Malik,O
AU - Kenton,AR
AU - Sharp,D
AU - Muddle,JR
AU - Davis,MB
AU - Winer,JB
AU - Orrell,RW
AU - King,RHM
DO - brain/awh017
EP - 202
PY - 2004///
SN - 0006-8950
SP - 193
TI - Coexistent hereditary and inflammatory neuropathy.
T2 - Brain
UR -
UR -
VL - 127
ER -