Cooley W C, Melkonian G, Moses C, Moeschler J B
Genetics and Child Development Center, Dartmouth Medical School, Hanover, New Hampshire 03756.
Dev Med Child Neurol. 1990 Dec;32(12):1098-104. doi: 10.1111/j.1469-8749.1990.tb08530.x.
A large New England family with autosomal dominant familial spastic paraplegia (ADFSP) is described. In a pedigree of 173 family members, 71 affected individuals were identified. 16 cases examined by the authors are described with regard to the natural history of ADFSP in this family, and a staging system for following progress and planning interventions is proposed. Three illustrative cases are presented. In this family, ADFSP was found to have a homogeneous clinical course, with nearly complete penetrance. Onset, with involvement limited to the lower extremities, occurred by three years of age, after which no significant progression was noted. Early, aggressive habilitative care may result in more functional ambulation for the youngest family members.
本文描述了一个患有常染色体显性遗传性痉挛性截瘫（ADFSP）的大型新英格兰家族。在一个由173名家庭成员组成的谱系中，共识别出71名患病个体。作者对所检查的16例病例进行了描述，阐述了该家族中ADFSP的自然病史，并提出了一个用于跟踪病情进展和规划干预措施的分期系统。文中还展示了三个具有代表性的病例。在这个家族中，ADFSP呈现出一致的临床病程，几乎完全外显。发病时仅累及下肢，多在三岁前出现，此后未观察到明显进展。早期积极的康复护理可能会使最年幼的家族成员获得更有效的行走功能。
