An autopsy case of Gerstmann-Sträusser-Scheinker's disease with spastic paraplegia as its principal feature

A 38-year-old woman developed slowly progressive gait disturbance. At age 39 years she was admitted to our department because she could not walk without assistance. On neurological examination she was alert with normal mental functions. Horizontal nystagmus on both sides, minimal clumsiness in the left upper extremity on the finger-to-nose test and moderate degree of spasticity in bilateral lower extremities without evident motor weakness were present. The gait was spastic with small steps on a wide base. There was no sensory abnormalities. The deep tendon reflexes were hyperactive on both sides, on the lower extremities, with positive Babinski's sign. The sphincter functions were intact. During the following 5 years she gradually deteriorated and pseudobulbar palsy, emotional incontinence and the progressive dementia appeared in addition to severe spastic paraplegia. At age 45 years she was admitted to our nursing home and she died 3 months later, of pneumonia, on 6 years after the onset of her illness. Two elder sisters of her 7 siblings had the similar neurologic illness. The brain weighed 1,060 g. There was mild atrophy of cerebrum, cerebellum and brainstem. There were neuronal loss and gliosis in layers IV-VI of cerebral cortex with no evidence of the spongy state. Cerebellar cortex, cerebellar peduncles and spinocerebellar tracts were preserved. There was marked degeneration of corticospinal tract from cerebral peduncle to lateral funiculus of lumbar spinal cord. The most prominent feature was appearance of numerous multicentric amyloid plaques, which were marked in layers I-III of cerebral cortex and to a lesser extent in corpus striatum, hippocampus and the white matters of cerebrum and cerebellum.(ABSTRACT TRUNCATED AT 250 WORDS)