Partial agenesis of the corpus callosum in spastin related hereditary spastic paraplegia

Case report: We report a family with four affected individuals in three generations, suffering from autosomal dominant hereditary spastic paraplegia (HSP). All patients show the typical symptoms of pure HSP including spasticity and hyperreflexia of the lower limbs, calf crambs, pallhypaesthesia of the lower limbs and clinical signs of an affection of the dorsal columnes. To comprehend a mild cognitive impairment, we performed a neuropsychological evaluation including the Trail Making Test, the Digit Symbol Test, the Digit Span Test and the Controlled Oral Word Association Test. Cognitive functions of all patient…