MacQueen G M, Rosebush P I, Mazurek M F
Department of Psychiatry, McMaster University Medical Centre, Hamilton, Ontario, Canada.
J Neuropsychiatry Clin Neurosci. 1998 Winter;10(1):10-9. doi: 10.1176/jnp.10.1.10.
Tay-Sachs disease (a GM2 gangliosidosis) is an inherited neuronal storage disease that can affect individuals across the age spectrum. Psychosis is reported in 30% to 50% of adult-onset patients, and many are misdiagnosed with schizophrenia. Mood disorders are present in more than 25% and cognitive impairment in more than 20%. Treatment of psychosis with neuroleptics may not have a favorable risk/benefit ratio, but treatment with benzodiazepines or electroconvulsive therapy may be efficacious. Metabolic diseases such as gangliosidosis are probably under-recognized as causes of neuropsychiatric illness. Increased awareness of these disorders will lead to accurate diagnosis, appropriate treatment selection, and genetic counseling.
泰-萨克斯病（一种GM2神经节苷脂沉积症）是一种遗传性神经元贮积病，可影响各个年龄段的个体。据报道，30%至50%的成年发病患者会出现精神病症状，许多患者被误诊为精神分裂症。超过25%的患者存在情绪障碍，超过20%的患者存在认知障碍。使用抗精神病药物治疗精神病可能没有良好的风险/效益比，但使用苯二氮䓬类药物或电休克治疗可能有效。像神经节苷脂沉积症这样的代谢性疾病可能未被充分认识为神经精神疾病的病因。提高对这些疾病的认识将有助于准确诊断、选择合适的治疗方法以及进行遗传咨询。
