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. 1982 Dec;45(12):1085–1091. doi: 10.1136/jnnp.45.12.1085

Ataxia and other data reviewed in Charcot-Marie-Tooth and Refsum's disease.

P Salisachs
PMCID: PMC491688  PMID: 6186770

Abstract

The author reports his experience on Refsum's disease and that gained after personally examining in detail 64 patients with Charcot-Marie-Tooth disease over the past ten years. The "cerebellar" inco-ordination in Charcot-Marie-Tooth disease (with or without distal wasting) and in Refsum's disease is analysed. Some variations in the motor and sensory neuropathy of Charcot-Marie-Tooth disease and Refsum's disease are discussed. The adequacy of motor conduction velocity in genetically distinguishing types of the above mentioned familial peripheral neuropathies is reviewed. Data on the neuropathy assessed by modern techniques of three original patients of Roussy and Levy (1926) are given. The possibility of extensor plantar responses in patients with Charcot-Marie-Tooth and Refsum's disease without structural lesion of the pyramidal tract is pointed out. The existence of the association between Friedreich's ataxia and Charcot-Marie-Tooth disease is criticised. It is emphasised that spinocerebellar degeneration (other than Friedreich's ataxia) presenting with distal limb weakness and wasting and sensory impairment may mimic Charcot-Marie-Tooth disease.

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Selected References

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  1. Barolin G. S., Hodkewitsch E., Höfinger E., Scholz H., Bernheimer H., Molzer B. Klinisch-biochemische Verlaufsuntersuchungen bei Heredopathia atactica polyneuritiformis (Morbus Refsum). Fortschr Neurol Psychiatr Grenzgeb. 1979 Feb;47(2):53–66. [PubMed] [Google Scholar]
  2. Behse F., Buchthal F. Peroneal muscular atrophy (PMA) and related disorders. II. Histological findings in sural nerves. Brain. 1977 Mar;100(Pt 1):67–85. doi: 10.1093/brain/100.1.67. [DOI] [PubMed] [Google Scholar]
  3. Bonduelle M., Bouygues P., Lormeau G., Deloux G., Laudat P., Wolf L. M. Maladie de Refsum. Etude des lipides du sérum et des urines. Rev Neurol (Paris) 1966 Nov;115(5):933–942. [PubMed] [Google Scholar]
  4. Buchthal F., Behse F. Peroneal muscular atrophy (PMA) and related disorders. I. Clinical manifestations as related to biopsy findings, nerve conduction and electromyography. Brain. 1977 Mar;100(Pt 1):41–66. doi: 10.1093/brain/100.1.41. [DOI] [PubMed] [Google Scholar]
  5. CAMMERMEYER J. Neuropathological changes in hereditary neuropathies: manifestation of the syndrome heredopathia atactica polyneuritiformis in the presence of interstitial hypertrophic polyneuropathy. J Neuropathol Exp Neurol. 1956 Jul;15(3):340–361. doi: 10.1097/00005072-195607000-00007. [DOI] [PubMed] [Google Scholar]
  6. Davis C. J., Bradley W. G., Madrid R. The peroneal muscular atrophy syndrome: clinical, genetic, electrophysiological and nerve biopsy studies. I. Clinical, genetic and electrophysiological findings and classification. J Genet Hum. 1978 Dec;26(4):311–349. [PubMed] [Google Scholar]
  7. Duncan G. W., Parker S. W., Fisher C. M. Acute cerebellar infarction in the PICA territory. Arch Neurol. 1975 Jun;32(6):364–368. doi: 10.1001/archneur.1975.00490480030002. [DOI] [PubMed] [Google Scholar]
  8. Flament-Durand J., Noel P., Rutsaert J., Toussaint D., Malmendier C., Lyon G. A case of Refsum's disease: clinical, pathological, ultrastructural and biochemical study. Pathol Eur. 1971;6(2):172–191. [PubMed] [Google Scholar]
  9. GORDON N., HUDSON R. E. Refsum's syndrome; heredopathia atactica polyneuritiformis; a report of three cases, including a study of the cardiac pathology. Brain. 1959 Mar;82(1):41–55. doi: 10.1093/brain/82.1.41. [DOI] [PubMed] [Google Scholar]
  10. Guiloff R. J., Thomas P. K., Contreras M., Armitage S., Schwarz G., Sedgwick E. M. Evidence for linkage of type I hereditary motor and sensory neuropathy to the Duffy locus on chromosome 1. Ann Hum Genet. 1982 Jan 1;46(Pt 1):25–27. doi: 10.1111/j.1469-1809.1982.tb00691.x. [DOI] [PubMed] [Google Scholar]
  11. Harding A. E., Thomas P. K. Distal and scapuloperoneal distributions of muscle involvement occurring within a family with type I hereditary motor and sensory neuropathy. J Neurol. 1980;224(1):17–23. doi: 10.1007/BF00313203. [DOI] [PubMed] [Google Scholar]
  12. Harding A. E., Thomas P. K. The clinical features of hereditary motor and sensory neuropathy types I and II. Brain. 1980 Jun;103(2):259–280. doi: 10.1093/brain/103.2.259. [DOI] [PubMed] [Google Scholar]
  13. Hughes J. T., Brownell B. Pathology of peroneal muscular atrophy (Charcot-Marie-Tooth disease). J Neurol Neurosurg Psychiatry. 1972 Oct;35(5):648–657. doi: 10.1136/jnnp.35.5.648. [DOI] [PMC free article] [PubMed] [Google Scholar]
  14. LAPRESLE J. Contribution à l'étude de la dystasie aréflexique héréditaire; état actuel de quatre des sept cas princeps de Roussy et Mlle Lévy, trente ans après la première publication de ces auteurs. Sem Hop. 1956 Jul 26;32(44-45):2473–2482. [PubMed] [Google Scholar]
  15. Lapresle J., Man H. X., Metreau R. Documents anatomiques concernant un cas de maladie de Refsum. Rev Neurol (Paris) 1974 Mar-Apr;130(3-4):103–110. [PubMed] [Google Scholar]
  16. Lapresle J., Salisachs P., Kremlin-Bicêtre L. Onion bulbs in a nerve biopsy specimen from an original case of Roussy-Lévy disease. Arch Neurol. 1973 Nov;29(5):346–348. doi: 10.1001/archneur.1973.00490290086013. [DOI] [PubMed] [Google Scholar]
  17. Madrid R., Bradley W. G., Davis C. J. The peroneal muscular atrophy syndrome. Clinical, genetic, electrophysiological and nerve biopsy studies. Part 2. Observations on pathological changes in sural nerve biopsies. J Neurol Sci. 1977 May;32(1):91–122. doi: 10.1016/0022-510x(77)90042-9. [DOI] [PubMed] [Google Scholar]
  18. REESE H., BARETA J. Heredopathia atactica polyneuritiformis. J Neuropathol Exp Neurol. 1950 Oct;9(4):385–395. doi: 10.1097/00005072-195010000-00004. [DOI] [PubMed] [Google Scholar]
  19. Ricker K., Mertens H. G., Schimrigk K. The neurogenic scapulo-peroneal syndrome. Eur Neurol. 1968;1(5):257–274. doi: 10.1159/000113668. [DOI] [PubMed] [Google Scholar]
  20. Rondot P., Said G., Ferrey G. Les hyperkinésies volitionnelles. Etude électrologique--Classification. Rev Neurol (Paris) 1972 Jun;126(6):415–426. [PubMed] [Google Scholar]
  21. Sahgal V., Olsen W. O. Heredopathia atactica polyneuritiformis (phytanic acid storage disease). A new case with special reference to dietary treatment. Arch Intern Med. 1975 Apr;135(4):585–587. [PubMed] [Google Scholar]
  22. Said G. Etude des fibres nerveuses isolées dans les névrites hypertrophiques primitives. Rev Neurol (Paris) 1976 Jul;132(7):467–480. [PubMed] [Google Scholar]
  23. Salisachs P. Charcot-Marie-Tooth disease associated with "essential tremor": Report of 7 cases and a review of the literature. J Neurol Sci. 1976 May;28(1):17–40. doi: 10.1016/0022-510x(76)90045-9. [DOI] [PubMed] [Google Scholar]
  24. Salisachs P., Codina A., Gimenez-Roldan S., Zarranz J. J. Charcot-Marie-Tooth disease associated with 'essential tremor' and normal and/or slightly diminished motor conduction velocity. Report of 7 cases. Eur Neurol. 1979;18(1):49–58. doi: 10.1159/000115053. [DOI] [PubMed] [Google Scholar]
  25. Salisachs P., Findley L. J., Codina M., La Torre P., Martinez-Lage J. M. A case of Charcot-Marie-Tooth disease mimicking Friedreich's ataxia: is there any association between friedreich's ataxia and Charcot-Marie-Tooth disease? Can J Neurol Sci. 1982 May;9(2):99–103. doi: 10.1017/s0317167100043778. [DOI] [PubMed] [Google Scholar]
  26. Salisachs P., Findley L. J., Codina M., La Torre P. Use and misuse of the Roussy-Levy eponym. J Neurol Neurosurg Psychiatry. 1982 Oct;45(10):938–940. doi: 10.1136/jnnp.45.10.938-a. [DOI] [PMC free article] [PubMed] [Google Scholar]
  27. Salisachs P., Findley L. J., Codina M., Martinez-Lage J. M. Should Charcot-Marie-Tooth disease be genetically subgrouped on motor conduction velocity. J Neurol Neurosurg Psychiatry. 1982 Feb;45(2):182–184. doi: 10.1136/jnnp.45.2.182. [DOI] [PMC free article] [PubMed] [Google Scholar]
  28. Salisachs P., Lapresle J. Argyll-Robertson-like pupils in the neural type of Charcot-Marie-Tooth disease. Eur Neurol. 1977;16(1-6):172–175. doi: 10.1159/000114897. [DOI] [PubMed] [Google Scholar]
  29. Salisachs P. Unusual presentation of Charcot Marie-Tooth disease-incoordination with absent of minimal wasting-Report of 2 cases. J Neurol Sci. 1981 May;50(2):175–180. doi: 10.1016/0022-510x(81)90163-5. [DOI] [PubMed] [Google Scholar]
  30. Thomas P. K., Calne D. B. Motor nerve conduction velocity in peroneal muscular atrophy: evidence for genetic heterogeneity. J Neurol Neurosurg Psychiatry. 1974 Jan;37(1):68–75. doi: 10.1136/jnnp.37.1.68. [DOI] [PMC free article] [PubMed] [Google Scholar]
  31. Ulrich J., Esslen E., Regli F., Bischoff A. Die Beziehungen der Nervenleitgeschwindigkeit zum histologischen Befund am peripheren nerven. Dargestellt an Hand von 49 Biopsien des N. suralis. Dtsch Z Nervenheilkd. 1965 Dec 14;187(8):770–786. [PubMed] [Google Scholar]

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