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Troyer syndrome, originally described in 1967 in an Old Order Amish population , is a complicated form of hereditary spastic paraplegia (HSP) inherited in an a utosomal recessive fashion and slowly progressive. The cardinal features are spa stic paraparesis, pseudobulbar palsy and distal amyotrophy, together with mild d evelopmental delay and subtle skeletal abnormalities. We report a detailed evalu ation of 21 cases of Troyer syndrome in the same Amish population, including thr ee from the original study. Imaging of the brain revealed white matter abnormali ties, particularly in the temporoparietal periventricular area. This study, coup led with the recent identification of the gene responsible (SPG20, encoding spar tin), increases our understanding of this form of HSP.
Troyer syndrome, originally described in 1967 in an Old Order Amish population, is a complicated form of hereditary spastic paraplegia (HSP) inherited in an utosomal recessive fashion and slowly progressive. The cardinal features are spa stic paraparesis, pseudobulbar palsy and distal amyotrophy, Together with mild d evelopmental delay and subtle skeletal abnormalities. We report a detailed evaluation of 21 cases of Troyer syndrome in the same Amish population, including thr ee from the original study. Imaging of the brain insight white matter abnormali ties, particularly in the This study, coup led with the recent identification of the gene responsible (SPG20, encoding spar tin), increase our understanding of this form of HSP.