Familial Ataxic Diplegia

Abstract

. Subrahmanyam, G., Tripathi, A. M. and Agarwal, K. N. (Department of Paediatrics, Institute of Medical Sciences, Banaras Hindu University, Varanasi, India). Familial ataxic diplegia. Acta Paediatr Scand, 63: 472, 1974.–A family with ataxic diplegia, mental and physical growth retardation in two generations is presented. The disease was limited to male members, suggesting a sex‐linked transmission.

X‐linked nonprogressive congenital cerebellar hypoplasia: Clinical description and mapping to chromosome Xq

“…Our cases are clearly distinct from those mentioned above due to the nonprogressive course and the lack of multisystem involvement. [18] can be excluded in our patients because of the absence of mental retardation and spastic paraparesis; the same is true for the syndrome described by Apak and co-workers [ 193. Unimpaired intelligence also distinguishes our cases from the form described by Young and collaborators [20] in a small two-generation kindred with 3 affected sons born to a healthy mother and 2 unrelated fathers; in addition, as was noted by Bruyn and de Yong [21], the above-mentioned family was genetically too bare to firmly determine mode of inheritance.…”

Heterogeneity of X‐linked recessive (Spino)cerebellar ataxia with or without spastic diplegia

“…Although the clinical picture may be similar, cererebellar signs such as ataxia and nystagmus are not prominent in X-linked spastic paraplegia [Bundey, 19851, while athetosis, optic atrophy or severe mental retardation were observed more often [Baar and Gabriel, 1966;Bundey and Griffiths, 1971;Raggio et al, 1973;Subrahanyam et al, 1974;Harding, 1984;Kenwrick et al, 19851. It is possible that some cases reported are to be reclassified as spastic ataxia or ataxic diplegia, and some of the older reports on spastic ataxia should be considered as X-linked spastic paraplegia (Neuhauser 1977) family reported here shows manifestations of both syndromes.…”

“…More than 70 reports of X-linked recessive ataxia have been published, including X-linked spinocerebellar ataxia [Turner and Roberts;1938;Malamud and Cohen, 1958;Shokeir, 1970;Spira et al, 1979;Harding, 19841, X-linked recessive ataxia [Becker, 1966;Baraitser, 1982;Bundey, 1985;Farlow et al, 1987;Neuhauser, 1977; Young et al, 19873, X-linked spastic paraplegia [Johnson and McKusick, 1962;Thurmon et al, 1971; Raggio et al, 1973;Kenwrick et al, 19851, and X-linked spastic ataxia or spastic diplegia [Wolfslast, 1943;Bell and Carmichael 1939;Baar and Gabriel, 1966;Subrahanyam et al, 1974;Harding, 1984;Aiba et al, 19861. Although the inheritance is the same in all of these cases of familial ataxia, age of onset, neurological findings, and prognosis are quite different in the families reported. Therefore, genetic heterogeneity must be assumed, and a more detailed differentiation seems necessary.…”