Pinsky L, Finlayson M H, Libman I, Scott B H
Clin Genet. 1975 Mar;7(3):186-91. doi: 10.1111/j.1399-0004.1975.tb00317.x.
A family with adult-onset amyotrophic lateral sclerosis (ALS) and dementia is described. The father presented with lower motor neurone disease affecting the legs. A son presented with bulbar paralysis. Neither developed dementia. A daughter presented with spastic right lower limb weakness. Two years later, she developed a rapidly progressive mental disorder. Her cortical pathology had a distinctive fronto-temporal distribution. The rarity of published reports on ALS with dementia in families outside the Western Pacific and the factor of parental consanguinity conspired to make genetic counseling for this family difficult.
本文描述了一个患有成年型肌萎缩侧索硬化症（ALS）和痴呆症的家庭。父亲表现为影响腿部的下运动神经元疾病。一个儿子表现为延髓麻痹。两人均未发展为痴呆症。一个女儿表现为右下肢痉挛性无力。两年后，她患上了一种快速进展的精神障碍。她的皮质病理表现为独特的额颞叶分布。西太平洋以外地区关于家族性ALS伴痴呆症的已发表报告很少，加上父母近亲结婚的因素，使得为这个家庭提供遗传咨询变得困难。
