Brain, Vol 121, Issue 4 601-609, Copyright © 1998 by Oxford University Press
S Webb, D Coleman, P Byrne, N Parfrey, T Burke, J Hutchinson and M Hutchinson
A family initially considered to have 'pure' autosomal dominant hereditary
spastic paraparesis (HSP), was found on neuropsychological testing to have
evidence of late onset cognitive impairment. This family showed genetic
linkage to the SPG4 locus on chromosome 2p previously reported for pure
HSP. Of 56 living members, 44 were examined, 30 of whom were > 30 years
of age and 12 members were found to be affected with HSP including four
asymptomatic cases. One other family member (III-5), aged 62 years, died
prior to this study of a 4- year dementing illness. Neuropsychological
assessment of 11 affected members and 11 matched, unaffected, family
controls showed no significant differences between the two groups. However,
the neuropsychological test profile in four of 11 affected members tested
(mean age 47.2 years) and one of 11 family controls (mean age 41.5 years)
showed global cognitive impairment. The pattern of cognitive dysfunction
was the same for all five family members identified and was similar to that
found in subcortical dementia. The presence of cognitive impairment
appeared to be related to age and not the severity of the paraplegia. Both
the severity of the paraplegia and the age of onset (21-60 years) varied
considerably in this family.
ARTICLES
Autosomal dominant hereditary spastic paraparesis with cognitive loss linked to chromosome 2p
Department of Neurology, St Vincent's Hospital, Dublin, Ireland.
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