Lai Tsu-Hsien, Soong Bing-Wen, Chen Jen-Tse, Chen Yen-Yu, Lai Kuan-Lin, Wu Zin-An, Liao Kwong-Kum
Department of Neurology, Taipei Veterans General Hospital, Taiwan.
Can J Neurol Sci. 2007 Aug;34(3):328-32. doi: 10.1017/s0317167100006764.
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.
Visual, brainstem auditory, somatosensory and motor EPs were studied in six KD patients. All of them had typical presentations and had been proved genetically.
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.
Our multimodal EP studies showed that KD involved multiple levels of the nervous system. It implies the widespread effects of the mutant androgen receptors.
肯尼迪病(KD)是一种X连锁隐性多聚谷氨酰胺疾病。传统上,它是一种下运动神经元综合征,伴有如男性乳房发育和震颤等其他特征。感觉症状即使存在也很轻微。我们使用多模态诱发电位(EP)测试来研究该疾病的受累分布。
对6例KD患者进行了视觉、脑干听觉、体感和运动EP研究。他们均有典型表现且已通过基因检测证实。
发现以下异常:视觉EP的峰潜伏期延长、听力阈值水平升高、脑干听觉EP不一致、体感EP的皮质电位振幅降低以及经颅磁刺激的运动阈值升高。
我们的多模态EP研究表明,KD累及神经系统的多个层面。这意味着突变雄激素受体具有广泛影响。