Pallido-pyramidal degeneration, supranuclear upgaze paresis and dementia: Kufor-Rakeb syndrome

作者：A. S. Najim Al-Din, A. Wriekat, Amar Mubaidin, Majed Dasouki, Mohammad Ali Hiari · 发表于：Acta Neurologica Scandinavica · 年份：2009 · DOI：10.1111/j.1600-0404.1994.tb02645.x · 被引用次数：220 · 研究领域：Trace Elements in Health、Parkinson's Disease Mechanisms and Treatments、RNA regulation and disease

An unusual neurological syndrome in an Arab family with five affected siblings, is reported. Autosomal recessive inheritance is suggested by having multiple affected siblings born to phenotypically normal consanguineous parents. Similar to Davison's Pallido-pyramidal syndrome, they presented with the clinical signs and symptoms of severe parkinsonism as well as evidence of cortico-spinal tract disease. In addition, they had dementia and supranuclear upgaze paresis. MRI studies showed significant atrophy of the globus pallidus and the pyramids, as well as generalized brain atrophy in later stages. Therapy with levodopa resulted in significant improvement in the extrapyramidal dysfunction. We suggest that this probably represents a new syndrome which is closely related but not identical to the pallido-pyramidal syndrome.