Sensory involvement in spinal-bulbar muscular atrophy (Kennedy's disease)
G. Antonini MD
Department of Neurological Sciences, University “La Sapienza,” Viale Università 30, 00185 Rome, Italy
Search for more papers by this authorF. Gragnani MD
Department of Neurological Sciences, University “La Sapienza,” Viale Università 30, 00185 Rome, Italy
Search for more papers by this authorA. Romaniello MD
Department of Neurological Sciences, University “La Sapienza,” Viale Università 30, 00185 Rome, Italy
Search for more papers by this authorS. Morino MD, PhD
Department of Neurological Sciences, University “La Sapienza,” Viale Università 30, 00185 Rome, Italy
Search for more papers by this authorV. Ceschin MD
Department of Neurological Sciences, University “La Sapienza,” Viale Università 30, 00185 Rome, Italy
Search for more papers by this authorL. Santoro MD
Department of Neurological Sciences, University “Federico II,” Naples, Italy
Search for more papers by this authorCorresponding Author
G. Cruccu MD
Department of Neurological Sciences, University “La Sapienza,” Viale Università 30, 00185 Rome, Italy
Department of Neurological Sciences, University “La Sapienza,” Viale Università 30, 00185 Rome, ItalySearch for more papers by this authorG. Antonini MD
Department of Neurological Sciences, University “La Sapienza,” Viale Università 30, 00185 Rome, Italy
Search for more papers by this authorF. Gragnani MD
Department of Neurological Sciences, University “La Sapienza,” Viale Università 30, 00185 Rome, Italy
Search for more papers by this authorA. Romaniello MD
Department of Neurological Sciences, University “La Sapienza,” Viale Università 30, 00185 Rome, Italy
Search for more papers by this authorS. Morino MD, PhD
Department of Neurological Sciences, University “La Sapienza,” Viale Università 30, 00185 Rome, Italy
Search for more papers by this authorV. Ceschin MD
Department of Neurological Sciences, University “La Sapienza,” Viale Università 30, 00185 Rome, Italy
Search for more papers by this authorL. Santoro MD
Department of Neurological Sciences, University “Federico II,” Naples, Italy
Search for more papers by this authorCorresponding Author
G. Cruccu MD
Department of Neurological Sciences, University “La Sapienza,” Viale Università 30, 00185 Rome, Italy
Department of Neurological Sciences, University “La Sapienza,” Viale Università 30, 00185 Rome, ItalySearch for more papers by this authorAbstract
Spinal-bulbar muscular atrophy (SBMA) is a rare X-linked neuronopathy associated with an abnormal representation of androgen receptors in the nervous system. Standard nerve conduction and histopathological studies have disclosed the involvement of large myelinated sensory fibers in the spinal nerves of SBMA patients. Little is known about the involvement of small sensory neurons and trigeminal nerves. Laser evoked potentials (LEPs) were studied in 6 unrelated patients with SBMA; 5 of these patients also underwent trigeminal reflex recordings, and 3 a sural nerve biopsy. LEPs were markedly abnormal, indicating a dysfunction in pain pathways. Given the sparing of small fibers in the sural nerve specimens, we hypothesize a dysfunction in spinothalamic cells, possibly due to an abnormal representation of the androgen receptors. Except for the jaw-jerk, all the trigeminal reflexes were markedly abnormal. Since the afferents for the jaw-jerk have their cell body within the central nervous system instead of the ganglion, the selective sparing of the jaw-jerk indicates a trigeminal ganglionopathy. © 2000 John Wiley & Sons, Inc. Muscle Nerve 23: 252–258, 2000.
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