概况神经系统的遗传性疾病以及可能有遗传成份的疾病或综合征,根据Pratt(1967)的统计在100种以上。Bird等报导华盛顿大学附属医院的遗传病门诊中,54%是患神经系统遗传病的(1974～1976)。他们还对某神经科病房的成年患者(1975)和某儿童医院患神经系统疾病的患孩(1973)共1,500例作了回顾性观察,其中201例(13.4%)肯定患遗传性疾病;305例(20.3%)患可能有遗传成份的疾病。此外,Mc Kusick于1975年所列出的2,336种单基因遗传的疾病或综合征,其中24%侵犯神经—肌肉系统。上述数字略可说明神经系统遗传性疾病的病种相当多,但每种的病例数则较少,而且不少都是罕见病。另一方面,某些神经系统遗传病在一些地区或家 At a Glance Genetic diseases of the nervous system and diseases or syndromes that may have a genetic component are based on more than 100 statistics by Pratt (1967). Bird et al reported that 54% of genetic disease clinics at Washington University Hospital were neurological genetic diseases (1974-1976). They also retrospectively reviewed a total of 1,500 adult patients (1975) in a neurological ward and a child (1973) with a neurological disease in a children’s hospital, of whom 201 (13.4%) were affirmed with genetic disease; 305 Cases (20.3%) suffering from genetic diseases may have. In addition, 2,336 single-genetically inherited diseases or syndromes were listed by Mc Kusick in 1975, of which 24% violated the neuromuscular system. The figures above show that the genetic diseases of the nervous system are quite numerous, but the number of cases in each category is small, and many of them are rare diseases. On the other hand, some neurological diseases are endemic in some areas or at home