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Hereditary spastic paraparesis with dementia, amyotrophy and peripheral neuropathy. A neuropathological study
Author(s) -
Ferrer I.,
Olive M.,
Rivera R.,
Pou A.,
Narberhaust B.,
Ugartet A.
Publication year - 1995
Publication title -
neuropathology and applied neurobiology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 2.538
H-Index - 95
eISSN - 1365-2990
pISSN - 0305-1846
DOI - 10.1111/j.1365-2990.1995.tb01057.x
Subject(s) - amyotrophy , putamen , pathology , medicine , dementia , frontal lobe , atrophy , white matter , dentate nucleus , corpus callosum , neuroscience , anatomy , psychology , cerebellum , magnetic resonance imaging , disease , radiology
Hereditary, probably autosomal recessive, spastic paraparesis in two siblings was associated with dementia of frontal lobe type, amyotrophy and peripheral sensory and motor polyneuropathy. Neuropathological findings correlate with neurological deficits, although neuron loss in the caudate and putamen, substantia nigra, and loss of Purkinje cells were clinically silent. Loss of neurons occurred in all cortical layers of the prefrontal lobe and superior temporal gyrus. Immunohistochemical studies showed reduced parvalbumin immunoreactivity in dendrites, and reduced numbers of calbindin D28k‐immunoreactive cells, thus suggesting involvement of cortical local‐circuit neurons. Myelin loss, ubiquitin‐immunoreactive granular deposits, and nerve fibre degeneration in the white matter of the frontal lobes and corpus callosum were also observed. Cerebral and sub‐cortical 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 patient.