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Sex-Linked Hereditary Ataxic Diplegia, the Borderland Between Cerebral Palsy and Pelizaeus-Merzbacher Disease

Published online by Cambridge University Press:  18 September 2015

H.G. Dunn ,
Margaret W. Thompson ,
Elizabeth Bandler  and
L.G. Andrews
H.G. Dunn*
Affiliation:
Division of Neurology, Department of Pediatrics, University of British Columbia, Department of Medical Genetics, University of Toronto, G. F. Strong Rehabilitation Centre, Vancouver, B.C.
Margaret W. Thompson
Affiliation:
Division of Neurology, Department of Pediatrics, University of British Columbia, Department of Medical Genetics, University of Toronto, G. F. Strong Rehabilitation Centre, Vancouver, B.C.
Elizabeth Bandler
Affiliation:
Division of Neurology, Department of Pediatrics, University of British Columbia, Department of Medical Genetics, University of Toronto, G. F. Strong Rehabilitation Centre, Vancouver, B.C.
L.G. Andrews
Affiliation:
Division of Neurology, Department of Pediatrics, University of British Columbia, Department of Medical Genetics, University of Toronto, G. F. Strong Rehabilitation Centre, Vancouver, B.C.
*
715 West 12th Avenue, Vancouver, B.C., Canada V5Z 1M9
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After a review of the literature concerning hereditary cases of cerebral palsy, a family is reported in which ataxic diplegia appears to be inherited as a sex-linked and probably recessive condition occurring in 3 males in successive generations. This ataxic diplegia, occurring after an unremarkable perinatal course, is associated with mild to moderate mental retardation, congenital nystagmus and significantly small stature and prevents the acquisition of free walking. Associated extrapyramidal features may gradually become more marked, while the nystagmus may subside. The condition is similar to that described in three previous reports in the literature. No evidence of linkage with other sex-linked disorders has been found, Xga typing showed that recombination between the Xg locus and the locus for hereditary ataxic diplegia has occurred once out of three possible opportunities. In the absence of neuropathological findings or specific biochemical tests, the differential diagnosis from Pelizaeus-Merzbacher disease cannot be made with certainty. The differentiation from other progressive sex-linked neurological disorders is discussed.

Type
Research Article
Information
Canadian Journal of Neurological Sciences , Volume 1 , Issue 4 , November 1974 , pp. 226 - 235
Copyright
Copyright © Canadian Neurological Sciences Federation 1974

References

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