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Sensory involvement in X-linked spino-bulbar muscular atrophy (Kennedy's syndrome): An electrophysiological study

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Abstract

Electrophysiological findings were studied in a family with spino-bulbar muscular atrophy (SBMA): the subjects were three male patients aged 58, 38 and 34 years and two female carriers aged 63 and 28 years. Diagnosis was proven at the molecular genetic level. Electromyography in the males showed spontaneous activity and neurogenic reorganization of the motor unit; motor nerve conduction was normal. Sensory action potentials were variably reduced in amplitude, but some were completely normal. Somatosensory evoked potentials, from both the upper and lower limbs, were invariably abnormal because involvement of the central pathways was observed. These findings are in agreement with histological investigations documenting lesions in the posterior columns. Brain-stem acoustic evoked potentials showed an increase in wave I latency. The electrophysiological data provide further evidence of the extent of sensory damage either in the central or the peripheral nervous system in SBMA patients, who otherwise have a constant clinical presentation of progressive motor neuron disease.

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References

  1. 1.

    Amato AA, Prior TW, Barohn RJ, Snyder P, Papp A, Mendell JR (1993) Kennedy's disease: a clinicopathologic correlation with mutations in the androgen receptor gene. Neurology 43:791–794

  2. 2.

    De Ferron E, Le Roux MG, Pascal O, Moisan JP, Fève JR (1994) Etude génétique moléculaire d'une famille atteinte du syndrome de Kennedy avec une hétérozygote symptomatique. Rev Neurol (Paris) 150:854–857

  3. 3.

    Doyu M, Sobue G, Mukai E, Kachi T, Yasuda T, Mitsuma T, Takahashi A (1992) Severity of X-linked recessive bulbospinal neuronopathy correlates with size of tandem CAG repeat in androgen receptor gene. Ann Neurol 32:707–710

  4. 4.

    Fischbeck KH, Ionasescu V, Ritter A, Ionasescu R, Davies K, Ball S, Bosch P, Burns T, Hausmanova-Petrusewicz I, Borowska J, Ringel PS Stern LZ (1986) Localization of the gene for Xlinked spinal muscular atrophy. Neurology 36:1595–1598

  5. 5.

    Fischbeck KH, Sounders D, La Spada AA (1991) Candidate gene for Xlinked spinal muscolar atrophy. In: Rowland LP (ed) Advances in neurology: Amyotrophic lateral sclerosis and other motor neuron diseases, vol 56. Raven Press, New York, pp 209–213

  6. 6.

    Harding AE, Thomas PK, Baraitser M, Bradbury PG, Morgan-Hughes JA, Ponsford JR (1982) X-linked recessive bulbospinal neuronopathy: a report of ten cases. J Neurol Neurosurg Psychiatry 45:1012–1019

  7. 7.

    Jeanmond K, Sindou M, Mauguiere F (1991) The human cervical and lumbosacral evoked electrospinogram. Data from intra-operative spinal cord surface recordings. Electroencephal Clin Neurophysiolograph 80:447–489

  8. 8.

    Igarashi S, Tanno Y, Onodera O, Yamazaky M, Sato S, Ishikawa A, Miyatani N, Nagashima M, Ishikawa K, Sahashi K, Ibi T, Miyatake T, Tsuji S (1992) Strong correlation between the number of CAG repeats in androgen receptor genes and the clinical onset of features of spinal and bulbar muscular atrophy. Neurology 42:2300–2302

  9. 9.

    Kachi T, Sobue G, Sobue I (1992) Central motor and sensory conduction in X-linked recessive bulbospinal neuropathy. J Neurol Neurosurg Psychiatry 55:394–397

  10. 10.

    Kennedy WR, Alter M, Sung JH (1968) Progressive proximal spinal and bulbar atrophy of late onset. A sexlinked recessive trait. Neurology 18:671–680

  11. 11.

    La Spada AR, Wilson EM, Lubhan DB, Harding AE, Fischbaeck HK (1991) Androgen receptor mutation in X-linked spinal and bulbar muscular atrophy. Nature 352:77–79

  12. 12.

    Li M, Sobue G, Doyu M, Mukai E, Hashizume Y, Mitsuma T (1995) Primary sensory neurons in X-linked recessive bulbospinal neuronopathy: histopathology and androgen receptor gene expression. Muscle Nerve 18:301–308

  13. 13.

    Richards RI, Sutherland GR (1992) Heritable unstable DNA sequences. Nature Genet 1:7–9

  14. 14.

    Ross CA, McInnis MG, Margolis RL, Shi-Hua Li (1993) Genes with triplet repeats: candidate mediators of neuropsychiatrie disorders. Trends Neurosci 16:254–260

  15. 15.

    Schoenen J, Delwaide PJ, Legros JJ, Franchimont P (1979) Mototorneuropathie héréditaire: la forme proximale de l'adulte liée au sexe (ou maladie de Kennedy). J Neurol Sci 41:343–357

  16. 16.

    Sobue G, Hashizume Y, Mukai E, Hirayama M, Mtsuma T, Takahashi A (1989) X-linked recessive bulbospinal neuronopathy: a clinicopathological study. Brain 112:209–232

  17. 17.

    Stefanis C, Papapetroupolos T, Scarpalezos S, Lygidakis G, Panayiotopoulos CP (1975) X-linked spinal and bulbar muscular atrophy of late onset: a separate type of motor neuron disease? J Neurol Sci 24:493–503

  18. 18.

    Zanette G, Polo A, Gasperini M, Bertolasi L, De Grandis D (1990) Farfield and cortical somatosensory evoked potentials in motor neuron disease. Muscle Nerve 13:47–55

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Correspondence to Alberto Polo.

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Polo, A., Teatini, F., D'Anna, S. et al. Sensory involvement in X-linked spino-bulbar muscular atrophy (Kennedy's syndrome): An electrophysiological study. J Neurol 243, 388–392 (1996). https://doi.org/10.1007/BF00868997

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Key words

  • X-Linked recessive spino-bulbar muscular atrophy
  • Somatosensory evoked potentials
  • Neuronopathy