HEREDITARY SPASTIC PARAPARESIS WITH DEMENTIA, AMYOTROPHY AND PERIPHERAL NEUROPATHY - A NEUROPATHOLOGICAL STUDY

Hereditary, probably autosomal recessive, spastic paraparesis in two s iblings was associated with dementia of frontal lobe type, amyotrophy and peripheral sensory and motor polyneuropathy. Neuropathological fin dings correlate with neurological deficits, although neuron loss in th e caudate and putamen, substantia nigra, and loss of Purkinje cells we re clinically silent, Loss of neurons occurred in all cortical layers of the prefrontal lobe and superior temporal gyrus, Immunohistochemica l studies showed reduced parvalbumin immunoreactivity in dendrites, an d reduced numbers of calbindin D28k-immunoreactive cells, thus suggest ing involvement of cortical local-circuit neurons. Myelin loss, ubiqui tin-immunoreactive granular deposits, and nerve fibre degeneration in the white matter of the frontal lobes and corpus callosum were also ob served. Cerebral and subcortical white matter abnormalities, together with atrophy of the thalamic dorsomedial complex and anterior nucleus, may have accounted for the development of severe dementia in this pat ient.