Upper motor neuron involvement in X-linked recessive bulbospinal muscular atrophy

Clinical Neurophysiology

Volumn 118, Issue 2, 2007, Pages 262-268

  Pachatz, C ^a   Terracciano, C ^a   Desiato, M T ^b   Orlacchio, A ^a,c   Mori, F ^a   Rocchi, C ^a   Bernardi, G ^a,c   Massa, R ^a,c  

^a UNIVERSITY OF ROME TOR VERGATA   (Italy)

^b S EUGENIO HOSPITAL   (Italy)

^c IRCCS FONDAZIONE SANTA LUCIA   (Italy)

Author keywords

Kennedy's disease; Muscle biopsy; Nerve biopsy; Transcranial magnetic stimulation; Upper motor neuron; X linked recessive bulbospinal muscular atrophy

Indexed keywords

ADULT; ARTICLE; CASE REPORT; CLINICAL FEATURE; ELECTROPHYSIOLOGY; EVOKED MUSCLE RESPONSE; HISTOPATHOLOGY; HUMAN; HUMAN TISSUE; KENNEDY DISEASE; MALE; MOTOR NERVE CONDUCTION; MOTOR NEURON DISEASE; MUSCLE TISSUE; NERVE BIOPSY; PRIORITY JOURNAL; SIBLING; TRANSCRANIAL MAGNETIC STIMULATION; X CHROMOSOME LINKED DISORDER;

AGED; BRAIN; EVOKED POTENTIALS, MOTOR; HUMANS; MALE; MOTOR CORTEX; MOTOR NEURON DISEASE; MOTOR NEURONS; MUSCLE FIBERS; MUSCLE, SKELETAL; MUSCULAR ATROPHY, SPINAL; NEURAL CONDUCTION; NEURAL PATHWAYS; PREDICTIVE VALUE OF TESTS; REACTION TIME; SIBLINGS; TRANSCRANIAL MAGNETIC STIMULATION;

EID: 33845916219     PISSN: 13882457     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.clinph.2006.10.006     Document Type: Article

References (38)

1. Adachi H., Katsuno M., Minaniyama M., Waza M., Sang C., Nakagomi Y., et al. Widespread nuclear and cytoplasmic accumulation of mutant androgen receptor in SBMA patients. Brain 128 (2005) 659-670
2. Amato A.A., Prior T.W., Barohn R.J., Snyder P., Papp A., and Mendell J.R. Kennedy's disease: a clinicopathological correlation with mutations in the androgen receptor gene. Neurology 43 (1998) 791-794
3. Attarian S., Azulay J.P., Lardillier D., Verschueren A., and Pouget J. Transcranial magnetic stimulation in lower motor neuron diseases. Clin Neurophysiol 116 (2005) 35-42
4. Berardelli A., Inghilleri M., Formisano R., Accornero N., and Manfredi M. Stimulation of motor tracts in motor neuron disease. J Neurol Neurosurg Psychiatry 50 (1987) 732-737
5. Caramia M.D., Cicinelli P., Paradiso C., Mariorenzi R., Zarola F., et al. 'Excitability' changes of muscular responses to magnetic brain stimulation in patients with central motor disorders. Electroencephalogr Clin Neurophysiol 81 (1991) 243-250
6. Desiato M.T., and Caramia M.D. Towards a neurophysiological marker of amyotrophic lateral sclerosis as revealed by changes in cortical excitability. Electroencephalogr Clin Neurophysiol 105 (1997) 1-7
7. Desiato M.T., Bernardi G., Hagi H.A., Boffa L., and Caramia M.D. Transcranial magnetic stimulation of motor pathways directed to muscles supplied by cranial nerves in amyotrophic lateral sclerosis. Clin Neurophysiol 113 (2002) 132-140
8. Di Lazzaro V., Oliviero A., Profice P., Ferrara L., Saturno E., Pilato F., et al. The diagnostic value of motor evoked potentials. Clin Neurophysiol 110 (1999) 1297-1307
9. Eisen A., and Weber M. The motor cortex and amyotrophic lateral sclerosis. Muscle & Nerve 24 (2001) 564-573
10. Eisen A., Pant B., and Stewart H. Cortical excitability in amyotrophic lateral sclerosis: a clue to pathogenesis. Can J Neurol Sci 20 (1993) 11-16
11. Falck B., Stalberg E., and Bischoff C. Sensory nerve conduction studies with surface electrodes. Methods Clin Neurophysiol 5 (1994) 1-20
12. Ferrante M.A., and Wilbourn A.J. The characteristic electrodiagnostic features of Kennedy's disease. Muscle & Nerve 20 (1997) 323-329
13. Fischbeck K.H., Souders D., and La Spada A. A candidate gene for X-linked spinal muscular atrophy. Adv Neurol 56 (1991) 209-213
14. Fischbeck K.H., Ionasescu V., Ritter A.W., Ionasescu R., Davies K., Ball S., et al. Localization of the gene for X-linked spinal muscular atrophy. Neurology 36 (1986) 1595-1598
15. Greenland K.J., Beilin J., Castro J., Varghese P.N., and Zajac J.D. Polymorphic CAG repeat length in the androgen receptor gene and association with neurodegeneration in a heterozygous female carrier of Kennedy's disease. J Neurol 251 (2004) 35-41
16. Harding A.E., Thomas P.K., Baraitser M., Bradbury P.G., Morgan-Hughes J.A., and Ponsford J.R. X-linked recessive bulbospinal neuronopathy: a report of ten cases. J Neurol Neurosurg Psychiatry 45 (1982) 1012-1019
17. Hugon J., Lubeau M., Tabaraud F., Chazot F., Vallat J.M., and Dumas M. Central motor conduction in motor neuron disease. Ann Neurol 22 (1987) 544-546
18. Ince P.G., Evans J., Knopp M., Forster G., Hamdalla H.H., Wharton S.B., et al. Corticospinal tract degeneration in the progressive muscular atrophy variant of ALS. Neurology 60 (2003) 1252-1258
19. Kachi T., Sobue G., and Sobue I. Central motor and sensory conduction in X-linked recessive bulbospinal neuronopathy. J Neurol Neurosurg Psychiatry 55 (1992) 394-397
20. Karitzky J., Block W., Mellies J.K., Traber F., Sperfeld A., Schild H.H., Haller P., et al. Proton magnetic resonance spectroscopy in Kennedy syndrome. Arch Neurol 56 (1999) 1465-1471
21. Kennedy W.R., and Alter M. Sung JH: Progressive proximal spinal and bulbar muscular atrophy of late onset: a sex-linked trait. Neurology 18 (1968) 671-680
22. Kimura J. Electrodiagnosis in diseases of nerve and muscle: principles and practice. 3rd ed. (2001), Oxford, New York
23. Kujirai T., Caramia M.D., Rothwell J.C., Day B.L., Thompson P.D., Ferbert A., et al. Corticocortical inhibition in human motor cortex. J Physiol 471 (1993) 501-519
24. La Spada A.R., Paulson H.L., and Fischbeck K.H. Trinucleotide repeat expansion in neurological disease. Ann Neurol 36 (1994) 814-822
25. La Spada A.R., Wilson E.M., Lubahn D.B., Harding A.E., and Fischbeck K.H. Androgen receptor gene mutations in X-linked spinal and bulbar muscular atrophy. Nature 352 (1991) 77-79
26. Li M., Sobue G., Doyu M., Mukai E., Hashizume Y., and Terunori M. Primary sensory neurons in X-linked recessive bulbospinal neuronopathy: histopathology and androgen receptor gene expression. Muscle & Nerve 18 (1995) 301-308
27. Mariotti C., Castellotti B., Pareyson D., Testa D., Eoli M., Antozzi C., Silani V., et al. Phenotypic manifestations associated with CAG-repeat expansion in the androgen receptor gene in male patients and heterozygous females: a clinical and molecular study of 30 families. Neuromuscul Disord 10 (2000) 391-397
28. Rossini P.M., and Caramia M.D. Central conduction studies and magnetic stimulation. Curr Opin Neurol Neurosurg 5 (1992) 697-703
29. Rossini P.M., Barker A.T., Berardelli A., Caramia M.D., Caruso G., Cracco R.Q., et al. Non-invasive electrical and magnetic stimulation of the brain, spinal cord and roots: basic principles and procedures for routine clinical application. Report on an IFCN committee. Electroencephalogr Clin Neurophysiol 91 (1994) 79-92
30. Shaw P.J., Thagesen H., Tomkins J., Slade J.Y., Usher P., Jackson A., et al. Kennedy's disease: unusual molecular pathologic and clinical features. Neurology 51 (1998) 252-255
31. Sobue G., Hashizume Y., Mukai E., Hirayama M., Mitsuma T., and Takahashi A. X-linked recessive bulbospinal neuronopahty. A clinicopathological study. Brain 112 (1989) 209-232
32. Sperfeld A.D., Karitzky J., Brummer D., Schreiber H., Haussler J., Ludolph A.C., et al. X-linked bulbospinal neuronopathy: kennedy disease. Arch Neurol 59 (2002) 1921-1926
33. Stalberg E., and Falck B. Clinical motor nerve conduction studies. Methods Clin Neurophysiol 4 (1993) 61-80
34. Tarlac V., and Storey E. Role of proteolysis in polyglutamine disorders. J Neurosci Res 74 (2003) 406-416
35. Thompson P.D., Day B.L., Rothwell J.C., Dick J.P., Cowan J.M., Asselman P., et al. The interpretation of electromyographic responses to electrical stimulation of the motor cortex in diseases of the upper motor neurone. J Neurol Sci 80 (1987) 91-110
36. Ugawa Y., Shimpo T., and Mannen T. Central motor conduction in cerebrovascular disease and motor neuron disease. Acta Neurol Scand 78 (1988) 297-306
37. Uozumi T., Tsuji S., and Murui Y. Motor potentials evoked by magnetic stimulation of the motor cortex in normal subjects and patients with motor disorders. Electroencephalogr Clin Neurophysiol 81 (1991) 251-256
38. Weber M., and Eisen A. Assessment of upper and lower motor neurons in Kennedy's disease: implications for corticomotoneuronal PSTH studies. Muscle & Nerve 22 (1999) 299-306