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Multimodal Evoked Potentials of Kennedy's Disease

  • Tsu-Hsien Lai (a1), Bing-Wen Soong (a1), Jen-Tse Chen (a1), Yen-Yu Chen (a2), Kuan-Lin Lai (a1), Zin-An Wu (a1) and Kwong-Kum Liao (a1)...

Abstract

Background:

Kennedy's disease (KD) is an X-linked recessive polyglutamine disease. Traditionally, it is a lower motor neuron syndrome with additional features such as gynecomastia and tremor. Sensory symptoms are minimal if ever present. We used multimodal evoked potential (EPs) tests to study the distribution of the involvement of the disease.

Methods:

Visual, brainstem auditory, somatosensory and motor EPs were studied in six KD patients. All of them had typical presentations and had been proved genetically.

Results:

Abnormal findings were noted as follows: prolonged peak latencies of visual EPs, increased hearing threshold level, inconsistent brainstem auditory EPs, decreased amplitudes of cortical potentials of somatosensory EPs, and increased motor threshold to transcranial magnetic stimulation.

Conclusions:

Our multimodal EP studies showed that KD involved multiple levels of the nervous system. It implies the widespread effects of the mutant androgen receptors.

RÉSUMÉ:

Potentiels évoqués multimodaux dans la maladie de Kennedy.

Contexte:

La maladie de Kennedy (MK) est une maladie récessive à polyglutamines, liée au chromosome X. Il s'agit traditionnellement d'un syndrome du neurone moteur périphérique accompagné d'autres manifestations comme de la gynécomastie et du tremblement. Si des symptômes sensitifs sont présents, ils sont minimes. Nous avons utilisé les potentiels évoqués (PÉs) multimodaux pour étudier la distribution de l'atteinte dans cette maladie. Méthodes : Nous avons étudié les PÉs visuels, les PÉs auditifs du tronc cérébral, les PÉs somesthésiques et les PÉs moteurs chez six patients atteints de MK. Chez tous, le tableau était typique et la maladie avait été confirmée par un test génétique. Résultats : Les anomalies suivantes ont été constatées : des latences prolongées du pic des PÉs visuels, un seuil auditif plus élevé, des PÉs auditifs du tronc cérébral discordants, une amplitude diminuée des potentiels corticaux des PÉs somesthésiques et un seuil moteur plus élevé à la stimulation magnétique transcrânienne. Conclusions : Nos études des PÉs multimodaux démontre que plusieurs niveaux du système nerveux sont atteints dans la MK, ce qui témoigne des effets diffus des récepteurs androgéniques mutants.

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References

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1. Harding, AE, Thomas, PK, Baraitser, M, Bradbury, PG, Morgan-Hughes, JA, Ponsford, JR. X-linked recessive bulbospinal neuronopathy: a report of ten cases. J Neurol Neurosurg Psychiatry. 1982;45(11):10129.
2. LaSpada, AR, Roling, DB, Harding, AE, Warner, CL, Spiegel, R, Hausmanowa-Petrusewicz, I, et al. Meiotic stability and genotype-phenotype correlation of the trinucleotide repeat in x-linked spinal and bulbar muscular atrophy. Nat Genet. 1992;2(4):3014.
3. Sperfeld, AD, Karitzky, J, Brummer, D, Schreiber, H, Haussler, J, Ludolph, AC, et al. X-linked bulbospinal neuronopathy: Kennedy disease. Arch Neurol. 2002;59(12):19216.
4. Anannontsak, A, Massakulpan, P, Aksaranugraha, S, Phanthumchinda, K. Somatosensory evoked potentials in X-linked recessive bulbospinal neuronopathy: a case demonstration. Electromyogra Clin Neurophysiol. 1999;39(7):3936.
5. Antonini, G, Gragnani, F, Romaniello, A, Pennisi, EM, Morino, S, Ceschin, V, et al. Sensory involvement in spinal-bulbar muscular atrophy (Kennedy’s disease). Muscle Nerve. 2000;23(2):2528.
6. Kachi, T, Sobue, G, Sobue, I. Central motor and sensory conduction in X-linked recessive bulbospinal neuronopathy. J Neurol Neurosurg Psychiatry. 1992;55(5):3947.
7. Polo, A, Teatini, F, D’Anna, S, Manganotti, P, Salviati, A, Dallapiccola, B, et al. Sensory involvement in X-linked spino-bulbar muscular atrophy (Kennedy’s disease): an electro-physiological study. J Neurol. 1996;243(5):38892.
8. Celesia, GG, Brigell, MG. Recommended standards for pattern electroretinograms and visual evoked potentials. Electroenceph Clin Neurophysiol Suppl. 1999;52:5367.
9. Pratt, H, Aminoff, MR, Nuwer, MR, Starr, A. Short-latency auditory evoked potentials. Electroenceph Clin Neurophysiol Suppl. 1999;52:6978.
10. Mauguière, F, Allison, T, Babiloni, C, Buchner, H, Eisen, AA, Goodin, SJ, et al. Somatosensory evoked potentials. Electroenceph Clin Neurophysiol Suppl. 1999;52:7990.
11. Rothwell, JC, Hallett, M, ÄA, Berardelli, Eisen, A, Rossini, PM, Paulus, W. Magnetic stimulation: motor evoked potentials. Electroenceph Clin Neurophysiol. 1999;S52:97103.
12. Gelinas, D, Callard, GV. Immunolocalization of aromatase- and androgen receptor-positive neurons in the goldfish brain. Gen Comp Endocrinol. 1997;106(2):15568.
13. Adachi, H, Katsuno, M, Minamiyama, M, Waza, M, Sang, C, Nakagomi, Y, et al. Widespread nuclear and cytoplasmic accumulation of mutant androgen receptor in SBMA patients. Brain. 2005;128(Pt 3):65970.
14. Agapova, OA, Kaufman, PL, Hernandez, MR. Androgen receptor and NFkB expression in human normal and glaucomatous optic nerve head astrocytes in vitro and in experimental glaucoma. Exp Eye Res. 2006;82(6):10539.
15. Nunez, JL, Huppenbauer, CB, McAbee, MD, Juraska, JM, DonCarlos, LL. Androgen receptor expression in the developing male and female rat visual and prefrontal cortex. J Neurobiol. 2003;56(3):293302.
16. Cheliout-Heraut, F, Barois, A, Urtizberea, A, Viollet, L, Estournet-Mathiaud, B. Evoked potentials in spinal muscular atrophy. J Child Neurol. 2003;18(6):38390.
17. Simerly, RB, Chang, C, Muramatsu, M, Swanson, LW. Distribution of androgen and estrogen receptor mRNA-containing cells in the rat brain: an in situ hybridization study. J Comp Neurol. 1990;294(1):7695.
18. Buecking, A, Pfister, R. Sensory ataxia as the initial clinical symptom in X-linked recessive bulbospinal neuronopathy. J Neurol Neurosurg Psychiatry. 2000;69(2):277.
19. Li, M, Sobue, G, Doyu, M, Mukai, E, Hasizume, Y, Mitsuma, T. Primary sensory neurons in X-linked recessive bulbospinal neuropathy: histopathology and androgen receptor gene expression. Muscle Nerve. 1995;18(3):3018.
20. Attarian, S, Azulay, J-Ph, Lardillier, D, Verschueren, A, Pouget, J. Transcranial magnetic stimulation in lower motor neuron disease. Clin Neurophysiol. 2005;116(1):3542.
21. Sobue, G, Hashizume, Y, Mukai, E, Hirayama, M, Mitsuma, T, Takahashi, A. X-linked recessive bulbospinal neuronopathy: a clinical pathological study. Brain. 1989;112(Pt 1):20932.
22. Nagashima, T, Seko, K, Hirose, K, Mannen, T, Yoshimura, S, Arima, R, et al. Familial bulbo-spinal muscular atrophy associated with testicular atrophy and sensory neuropathy. J Neurol Sci. 1988;87(2-3):14152.
23. Shaw, PJ, Thagesen, H, Tomkins, J, Slade, JY, Usher, P, Jackson, A, et al. Kennedy’s disease: unusual molecular pathologic and clinical features. Neurology. 1998;51(1):2525.
24. Pachatz, C, Terracciano, C, Desiato, MT, Orlacchio, A, Mori, F, Rocchi, C, et al. Upper motor neuron involvement in X-linked recessive bulbospinal muscular atrophy. Clin Neurophysiol. 2007;118(2):2628.
25. Karitzky, J, Block, W, Mellies, JK, Traber, F, Sperfeld, A, Schild, HH, et al. Proton magnetic resonance spectroscopy in Kennedy syndrome. Arch Neurol. 1999;56(12):146571.
26. Kessler, H, Prudlo, J, Kraft, S, Supprian, T. Dementia of frontal lobe type in Kennedy’s disease. Amyotroph Lateral Scler Other Motor Neuron Disord. 2005;6(4):2503.
27. Soragna, D, Messa, C, Mochi, M, Alfonsi, E, Manni, R, Galimberti, CA, et al. Dopaminergic pathways involvement in Kennedy’s disease: neurophysiological and [123I]ß-CIT SPECT findings. J Neurol. 2001;248(8):7102.
28. Jones, SJ. Clinical applications of short-latency somatosensory evoked potentials. Ann N Y Acad Sci. 1982;388:36987.
29. Halliday, AM, McDonald, WI, Mushin, J. Visual evoked response in diagnosis of multiple sclerosis. Br Med J. 1973;4(5893):6614.
30. Pierelli, F, Garrubba, C, Tilia, G, Parisi, L, Fattapposta, F, Pozzessere, G, et al. Multimodal evoked potentials in HIV-1-seropositive patients: relationship between the immune impairment and the neurophysiological function. Acta Neurol Scand. 1996;93(4):26671.

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