摘要
A 30-year-old white man presented with a sporadic form of gradually progress ive spastic gait and, later, supranuclear vertical and horizontal gaze palsy, mi ld cognitive impairment, loss of postural reflexes, and falls. DNA analysis reve aled H1/H1 haplotype without tau gene (exons 9 to 13) mutation. Eight years late r, postmortem revealed a tauopathy similar to progressive supranuclear palsy. Un usual aspects were early age at onset, neurofibrillary tangle, and tau involveme nt of the cord.
A 30-year-old white man presented with a sporadic form of gradually progress ive spastic gait and, later, supranuclear vertical and horizontal gaze palsy, mi ld cognitive impairment, loss of postural reflexes, and falls. DNA analysis reve aled H1/H1 haplotype without tau gene (exons 9 to 13) mutation. Eight years late r, postmortem revealed a tauopathy similar to progressive supranuclear palsy. Un usual aspects were early age at onset, neurofibrillary tangle, and tau involveme nt of the cord.
出处
《世界核心医学期刊文摘（神经病学分册）》
2005年第8期54-54,共1页
Digest of the World Core Medical Journals:Clinical Neurology
