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The peripheral neuropathy in Machado-Joseph disease

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Peripheral nerve biopsies were taken from 11 patients with Machado-Joseph disease (MJD), a heredodegenerative disease within the group of autosomal dominant ataxias. On the basis of the clinical symptoms, 2 patients were found to suffer from type I, 4 from type II and 5 from type III. All cases shared the same pathological features, which consisted of a reduction in density of myelinated and unmyelinated fibres and an increase in endoneurial collagen. It was also observed that some Schwann cells were not related to axons, whilst others showed numerous budding processes. The intensity of the changes varied considerably: it was mild in type I and II and severe in type III. Peripheral nerve changes in MJD are compared with those previously described in other forms of heredo-ataxias. It is concluded that involvement of peripheral nerves is a significant feature in this group of diseases and that peripheral nerve biopsy could be useful in the identification of the subtypes of MJD.

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  1. Coutinho P, Andrade C (1978) Autosomal dominant system degeneration in Portuguese families of the Azores Islands. A new genetic disorder involving cerebellar, pyramidal, extrapyramidal and spinal cord motor functions. Neurology 28:703–709

  2. Coutinho P, Guimarães A, Scaravilli F (1982) The pathology of Machado-Joseph disease. Report of a possible homozygous case. Acta Neuropathol (Berl) 58:48–54

  3. Dyck PJ (1975) Pathologic alterations of the peripheral nervous system of man. In: Dyck PJ, Thomas PK, Lambert EH (eds) Peripheral neuropathy. Saunders, Philadelphia, pp 296–336

  4. Dyck PJ, Ohta M (1975) Neuronal atrophy and degeneration predominantly affecting peripheral sensory neurons. In: Dyck PJ, Thomas PK, Lambert EH (eds) Peripheral neuropathy. Saunders, Philadelphia, pp 791–824

  5. Friedreich N (1863) Über degenerative Atropie der spinalen Hinterstränge. Virchows Arch [A] 26:391–419, 433–459

  6. Hughes JT, Brownell B, Hewer RL (1968) The peripheral sensory pathway in Friedreich's ataxia. Brain 91:803–818

  7. McLeod JG, Evans WA (1981) Peripheral neuropathy in spinocerebellar degenerations. Muscle Nerve 4:51–61

  8. Nakano KK, Dawson DM, Spence A (1972) Machado disease: a hereditary ataxia in Portuguese emigrants to Massachusetts. Neurology 22:49–55

  9. Oh SY, Hasley JM (1973) Abnormality in nerve potentials in Friedreich's ataxia. Neurology 23:52–59

  10. Romanul FCA, Fowler HL, Radvany J, Feldman RG, Feingold M (1977) Azorean disease of the nervous system. N Engl J Med 296:1505–1508

  11. Rosenberg RN (1984) Joseph disease: an autosomal dominant motor system degeneration. Adv Neurol 41:179–193

  12. Spira PJ, McLeod JG, Evans WA (1979) Spinocerebellar degeneration with X-linked inheritance. Brain 102:27–41

  13. Tohgi H, Tsukagoshi H, Toyokura Y (1977) Quantitative changes of sural nerves in various neurological diseases. Acta Neuropath (Berl) 38:95–101

  14. Wadia NH (1977) Heredo-familial spinocerebellar degeneration with slow eye movement: another variety of pontocerebellar degeneration. Neurology (India) 25:147–160

  15. Wadia NH (1983) A variety of olivopontocerebellar degeneration distinguished by slow eye movements and peripheral neuropathy. Adv Neurol 41:149–177

  16. Wadia NH, Swami RK (1971) A new form of heredofamilial spinocerebellar degeneration with slow eye movements. Brain 94:359–374

  17. Woods BT, Schaumburg HH (1972) Nigrospinodentatal degeneration with nuclear ophthalmoplegia. An unique and partially treatable clinicopathological entity. J Neurol Sci 17:149–166

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Correspondence to F. Scaravilli.

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Coutinho, P., Guimarães, A., Pires, M.M. et al. The peripheral neuropathy in Machado-Joseph disease. Acta Neuropathol 71, 119–124 (1986). https://doi.org/10.1007/BF00687972

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Key words

  • Machado-Joseph disease
  • Peripheral neuropathy
  • Heredodegenerative disease