Baraitser M, Gooddy W, Halliday A M, Harding A E, Rudge P, Scaravilli F
J Neurol Neurosurg Psychiatry. 1984 Jan;47(1):21-5. doi: 10.1136/jnnp.47.1.21.
Three members of a family were affected by an autosomal dominant disorder comprising cerebellar ataxia, sensorineural deafness, myoclonus, and peripheral neuropathy. This is the second kindred with this syndrome reported to date. Necropsy of the proband showed loss of cells in the dentate nuclei, a reduced amount of cerebellar white matter, and pallor of the gracile tracts in the spinal cord.
一个家族的三名成员患有常染色体显性疾病,包括小脑共济失调、感音神经性耳聋、肌阵挛和周围神经病变。这是迄今为止报道的第二个患有该综合征的家族。先证者的尸检显示齿状核细胞丢失、小脑白质减少以及脊髓薄束苍白。