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 periventricular 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.

Original languageEnglish
Pages (from-to)251-257
Number of pages7
JournalAmerican journal of medical genetics
Issue number2
StatePublished - 1990


  • X-linked recessive
  • dysmyelination
  • hereditary white matter disease
  • leukodystrophy


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