Immunological Study of Hereditary Motor and Sensory Neuropathy Type 1a (HMSN1a)

Overview

Journal J Neurol Neurosurg Psychiatry

Publisher BMJ Publishing Group

Specialties Neurology
Neurosurgery
Psychiatry

Date 2002 Jan 18

PMID 11796774

Citations 9

Authors

C M Gabriel

N A Gregson

N W Wood

R A C Hughes

Affiliations

Soon will be listed here.

Abstract

Objectives: Fifty three patients were studied to investigate whether autoimmune or inflammatory mechanisms could explain the phenotypic heterogeneity of patients with hereditary motor and sensory neuropathy type 1a (HMSN1a).

Methods: Serum samples were examined for antibodies to peripheral nerve myelin protein 22 (PMP22), ganglioside GM1 and cauda equina homogenate, and interleukin-6 (IL-6) and soluble tumour necrosis factor receptor 1 (sTNF R1) concentrations. Serological results were compared with those from patients with other neuropathies (ONPs, n=30) and with normal subjects (n=51).

Results: In the group as a whole, no relation emerged between clinical severity and any immune parameters. Immunohistochemical examination of four sural nerve biopsies did not show significant inflammatory infiltration. In a subset of 12 patients who experienced stepwise progression of disease, there was a trend towards a higher proportion having anti-PMP22 antibodies (33% v 15% of those with gradual disease progression, 3% ONPs, and no normal controls) and complement fixing antibodies to human cauda equina (25% v 5% with gradual progression, 8.6% ONPs, 3.9% normal controls, p=0.07).

Conclusions: Patients with HMSN1a and a stepwise disease progression may have an inflammatory, autoimmune component superimposed on the genetic condition.

Citing Articles

Case report: Chronic inflammatory demyelinating polyneuropathy superimposed on Charcot-Marie-tooth type 1A disease after SARS-CoV-2 vaccination and COVID-19 infection.

Li D, Yu H, Zhou M, Fan W, Guan Q, Li L Front Neurol. 2024; 15:1358881.

PMID: 38651106 PMC: 11033519. DOI: 10.3389/fneur.2024.1358881.

A Rare Phenotype of Uncommon Charcot-Marie-Tooth Genotypes Complicated With Inflammation Evaluated by Genetics and Magnetic Resonance Neurography.

Su X, Kong X, Lu Z, Wang L, Zheng C Front Genet. 2022; 13:873641.

PMID: 35873478 PMC: 9302481. DOI: 10.3389/fgene.2022.873641.

Inherited Neuromuscular Disorders: Which Role for Serum Biomarkers?.

Lupica A, Di Stefano V, Gagliardo A, Iacono S, Pignolo A, Ferlisi S Brain Sci. 2021; 11(3).

PMID: 33801069 PMC: 8004068. DOI: 10.3390/brainsci11030398.

hATTR Pathology: Nerve Biopsy Results from Italian Referral Centers.

Luigetti M, Romozzi M, Bisogni G, Cardellini D, Cavallaro T, Di Paolantonio A Brain Sci. 2020; 10(11).

PMID: 33114611 PMC: 7692609. DOI: 10.3390/brainsci10110780.

Charcot–Marie–Tooth disease type 2J with MPZ Thr124Met mutation: clinico-electrophysiological and MRI study of a family.

Gallardo E, Garcia A, Ramon C, Maravi E, Infante J, Gaston I J Neurol. 2009; 256(12):2061-71.

PMID: 19629567 DOI: 10.1007/s00415-009-5251-y.

References

Kleyweg R, van der Meche F, Schmitz P . Interobserver agreement in the assessment of muscle strength and functional abilities in Guillain-Barré syndrome. Muscle Nerve. 1991; 14(11):1103-9. DOI: 10.1002/mus.880141111. View

Lupski J, Slaugenhaupt S, Pentao L, Guzzetta V, Trask B, Saucedo-Cardenas O . DNA duplication associated with Charcot-Marie-Tooth disease type 1A. Cell. 1991; 66(2):219-32. DOI: 10.1016/0092-8674(91)90613-4. View

Gregson N, Jones D, Thomas P, Willison H . Acute motor neuropathy with antibodies to GM1 ganglioside. J Neurol. 1991; 238(8):447-51. DOI: 10.1007/BF00314652. View

Gabreels-Festen A, Joosten E, Gabreels F, Jennekens F . Early morphological features in dominantly inherited demyelinating motor and sensory neuropathy (HMSN type I). J Neurol Sci. 1992; 107(2):145-54. DOI: 10.1016/0022-510x(92)90282-p. View

Van Zee K, Kohno T, FISCHER E, Rock C, Moldawer L, Lowry S . Tumor necrosis factor soluble receptors circulate during experimental and clinical inflammation and can protect against excessive tumor necrosis factor alpha in vitro and in vivo. Proc Natl Acad Sci U S A. 1992; 89(11):4845-9. PMC: 49184. DOI: 10.1073/pnas.89.11.4845. View

Vital A, Vital C, Julien J, Fontan D . Occurrence of active demyelinating lesions in children with hereditary motor and sensory neuropathy (HMSN) type I. Acta Neuropathol. 1992; 84(4):433-6. DOI: 10.1007/BF00227671. View

Gregory R, Thomas P, King R, Hallam P, Malcolm S, Hughes R . Coexistence of hereditary motor and sensory neuropathy type Ia and IgM paraproteinemic neuropathy. Ann Neurol. 1993; 33(6):649-52. DOI: 10.1002/ana.410330615. View

Khalili-Shirazi A, Atkinson P, Gregson N, Hughes R . Antibody responses to P0 and P2 myelin proteins in Guillain-Barré syndrome and chronic idiopathic demyelinating polyradiculoneuropathy. J Neuroimmunol. 1993; 46(1-2):245-51. DOI: 10.1016/0165-5728(93)90255-w. View

Dunne J, Stewart-Wynne E . Neurologic improvement of adrenomyeloneuropathy after steroid replacement therapy. Muscle Nerve. 1993; 16(10):1133-5. View

10.

Hoogendijk J, de Visser M, Bolhuis P, Hart A, Ongerboer de Visser B . Hereditary motor and sensory neuropathy type I: clinical and neurographical features of the 17p duplication subtype. Muscle Nerve. 1994; 17(1):85-90. DOI: 10.1002/mus.880170112. View

11.

Williams L, Shannon B, WRIGHT F . Circulating cytotoxic immune components in dominant Charcot-Marie-Tooth syndrome. J Clin Immunol. 1993; 13(6):389-96. DOI: 10.1007/BF00920014. View

12.

Gabreels-Festen A, Gabreels F, Hoogendijk J, Bolhuis P, Jongen P, Vingerhoets H . Chronic inflammatory demyelinating polyneuropathy or hereditary motor and sensory neuropathy? Diagnostic value of morphological criteria. Acta Neuropathol. 1993; 86(6):630-5. DOI: 10.1007/BF00294303. View

13.

Williams L, WRIGHT F . Arachidonic fatty acid in red blood cell membranes, lymphocytes, and cultured skin fibroblasts of dominant Charcot-Marie-Tooth syndrome. J Neurol Sci. 1993; 120(2):195-200. DOI: 10.1016/0022-510x(93)90273-2. View

14.

MacMillan J, Harper P . The Charcot-Marie-Tooth syndrome: clinical aspects from a population study in South Wales, UK. Clin Genet. 1994; 45(3):128-34. DOI: 10.1111/j.1399-0004.1994.tb04009.x. View

15.

FitzSimons R . Facioscapulohumeral dystrophy: the role of inflammation. Lancet. 1994; 344(8927):902-3. DOI: 10.1016/s0140-6736(94)92263-2. View

16.

Zielasek J, Ritter G, Magi S, Hartung H, Toyka K . A comparative trial of anti-glycoconjugate antibody assays: IgM antibodies to GM1. J Neurol. 1994; 241(8):475-80. DOI: 10.1007/BF00919708. View

17.

Arahata K, Ishihara T, Fukunaga H, Orimo S, Lee J, Goto K . Inflammatory response in facioscapulohumeral muscular dystrophy (FSHD): immunocytochemical and genetic analyses. Muscle Nerve Suppl. 1995; 2:S56-66. View

18.

McGuinness M, Griffin D, Raymond G, Washington C, Moser H, Smith K . Tumor necrosis factor-alpha and X-linked adrenoleukodystrophy. J Neuroimmunol. 1995; 61(2):161-9. DOI: 10.1016/0165-5728(95)00084-f. View

19.

Killian J, Tiwari P, Jacobson S, Jackson R, Lupski J . Longitudinal studies of the duplication form of Charcot-Marie-Tooth polyneuropathy. Muscle Nerve. 1996; 19(1):74-8. DOI: 10.1002/(SICI)1097-4598(199601)19:1<74::AID-MUS10>3.0.CO;2-3. View

20.

Vallat J, Sindou P, Preux P, Tabaraud F, Milor A, Couratier P . Ultrastructural PMP22 expression in inherited demyelinating neuropathies. Ann Neurol. 1996; 39(6):813-7. DOI: 10.1002/ana.410390621. View