Complicated hereditary spastic paraparesis with cerebral white matter lesions

Publisher Website
Google Scholar
Abstract
A family is described with 5 males in a single generation affected with a previously undescribed complicated form of hereditary spastic paraparesis (HSP). The disease is characterized by speech difficulties, lower limb spasticity and hyper‐reflexia, mental retardation, cerebellar ataxia, and tremor. The disease starts in the first decade of life and progresses for 3 to 6 years before stabilizing. Magnetic resonance imaging (MRI) of the brain demonstrates bilateral posterior peri‐ventricular white matter lesions. Visual evoked responses are markedly prolonged, but electromyography (EMG) and nerve conduction velocity studies are normal. Three of the 4 living affected members of this pedigree exhibit red‐green color vision defects. The presentation of a new complicated hereditary spastic paraparesis syndrome in this pedigree extends our understanding of the variability and heterogeneity of this syndrome and suggests an approach for the evaluation of similar families in future genetic studies.