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

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Sex-Linked Hereditary Ataxic Diplegia, the Borderland Between Cerebral Palsy and Pelizaeus-Merzbacher Disease THE CANADIAN JOURNAL OF NEUROLOGICAL SCIENCES Sex-Linked Hereditary Ataxic Diplegia, the Borderland Between Cerebral Palsy and Pelizaeus-Merzbacher Disease H. G. DUNN, MARGARET W. THOMPSON, ELIZABETH BANDLER and L. G. ANDREWS SUMMARY: After a review of the litera­ described in three previous reports in the The importance of genetic factors ture concerning hereditary cases of literature. No evidence of linkage with in the etiology of cerebral palsy is cerebral palsy, a family is reported in other sex-linked disorders has been still somewhat controversial, though which ataxic diplegia appears to be inh­ found, Xg" typing showed that recombi­ erited as a sex-linked and probably re­ nation between the Xg locus and the occasional cases have a clear family cessive condition occurring in 3 males in locus for hereditary ataxic diplegia has history of similar disability. With successive generations. This ataxic dip­ occurred once out of three possible op­ regard to spastic forms, Pas kind and legia, occurring after an unremarkable portunities. In the absence of Stone in 1933 were able to analyze perinatal course, is associated with mild neuropathological findings or specific 152 families in the literature, in to moderate mental retardation, congen­ biochemical tests, the differential diag­ whom familial cases had been de­ ital nystagmus and significantly small nosis from Pelizaeus-Merzbacher dis­ scribed. Among these, spastic stature and prevents the acquisition of ease cannot be made with certainty. The paralysis had been found in two gen­ free walking. Associated extrapyramidal differentiation from other progressive erations in 32 instances and in 3 or features may gradually become more sex-linked neurological disorders is dis­ more generations in 13 instances. marked, while the nystagmus may sub­ cussed. The literature has also been re­ side. The condition is similar to that viewed by Rhein (1916), Bell and Carmichael (1939), Polani (1963), In­ gram (1964) and Glenting (1970). The RESUME: Apres une revue de la litera­ s'attenuer. La condition est presque exact frequency of hereditary cases ture sur les cas hereditaires de paralysie similaire a celle decrite dans trois rap­ is hard to determine since the mere cerebrate, la cas a"une famille, dans ports anterieurs de la litterature. Aucune occurrence of cerebral palsy in sibl­ laquelle une ataxie diplegique appardit evidence n'a ete donnee du lien avec les defacon hereditaire a etre liee au sexe et autres desordres lies au sexe. Un typage ings may be due to environmental probablement chez 3 males de 3 Xg " montrait que la recombinaison entre factors like prematurity or maternal generations successives, est rapporte. le locus Xg et le locus pour I'ataxie toxemia, rather than genetic causes. Cette ataxie diplegique survenant apres diplegique est survenu une fois sur trois Also, the frequency depends on the une periodeperinatale peu remarquable, possibilites. En /'absence de constata- definition of the cerebral palsy syn­ est associee a un retard mental leger, a tions neuropathologiques ou de tests drome; as most recent authors insist un nystagmus congenital, a une petite biochimiques speciaux, le diagnostic that this should strictly exclude any taille et ne permet pas /'acquisition differentiel de maladie de Pelizaeus- progressive lesions, conditions like d'une demarche libre. Les signes ex- Merzbacher ne peut pas etre fait avec hereditary spastic paraplegia cannot trapyramidaux associes peuvent certitude. La differentiation des autres be considered in this context (Mac- graduellement devenir plus marques desordres neurologiques lies au sexe est pendant que le nystagmus peut aussi discutee. Keith et al 1959, Bax 1964, Glenting 1970). In surveys of cerebral palsy the prevalence of the condition in sibl­ ings has been found to range from about 3% to 5% (Blumel et al 1957, Mitchell 1961, Ingram 1964). The prevalence in all relatives in direct descent of the grandparents has been found to be about 10% (Ingram 1964, Glenting 1970). In general, cerebral palsy tended to affect members of From the Division of Neurology, Department of the family in a horizontal rather than Pediatrics, University of British Columbia; the De­ vertical direction on the pedigree, partment of Medical Genetics, University of To­ ronto; and the G. F. Strong Rehabilitation Centre, thus suggesting mostly recessive in­ Vancouver. B.C. heritance. However, environmental Reprint address: Dr. H. G. Dunn, 715 West 12th factors could then not be excluded, Avenue, Vancouver, B.C., Canada V5Z 1M9 and Glenting (1970) noted that the 226 - NOVEMBER 1974 Downloaded from https://www.cambridge.org/core. IP address: 170.106.33.22, on 02 Oct 2021 at 09:33:22, subject to the Cambridge Core terms of use, available at https://www.cambridge.org/core/terms. https://doi.org/10.1017/S0317167100019818 * LE JOURNAL CANADIEN DES SCIENCES NEUROLOGIQUES incidence of consanguinity among with ataxic forms of cerebral palsy importance, there were 10 with con­ parents was only 1.2%, compared to often had defects of vision, eye genital non-progressive ataxia and 2.1% among the general population. movements, hearing and speech, mental retardation, and 3 with ataxic A closer investigation of etiological and Ingram noted that only 36% of diplegia. The ataxia and mental re­ possibilities in his survey showed those with ataxia and 21% of those tardation appeared to be inherited as that a tendency to premature birth with ataxic diplegia had normal intel­ an autosomal recessive condition; in might be related to the condition, but ligence. He concluded that a de­ one of the 3 families with ataxic that otherwise birth factors could velopmental malformation of the diplegia, the disease appeared to be not be considered significant. He brain was probably more important due to a dominant gene, possibly concluded cautiously that genetic than birth injury in the majority of with varying expressivity. One fam­ factors might well be responsible for patients with ataxic forms of cere­ ily with only a brother and sister some cases of spastic cerebral palsy, bral palsy. Such a malformation affected by ataxic diplegia was sub­ and that some familial cases might (sometimes associated with hyd­ be part of hereditary syndromes. rocephalus) might then be geneti­ sequently published in detail by Twin studies (Gedda 1955, Hansen cally determined or due to Hagberg et al (1970), since the pa­ 1960, denting, 1970) and the finding teratogenic factors in early pre­ tients were also found to have defi­ of chromosome defects among pos­ gnancy. In 1964, Ingram mentioned cient cellular immunity. sibly 1% of cerebral palsied patients that among 12 patients with ataxic We report a family in whom ataxic with severe mental retardation (Po- diplegia, 5 had a family history of diplegia appears to be inherited as a lani 1963) point towards the same possible significance. In 2 of these sex-linked and probably recessive conclusion. Neuro-pathological the mother also had ataxic diplegia, condition. We have found only three studies demonstrating developmen­ suggesting that the disease was inh­ previous reports in the literature tal brain defects in familial cases erited in a dominant manner. In their concerning this mode of inheritance would be of great value in supporting Swedish survey, Gustavsson and his in ataxic diplegia, and in all three the hereditary nature of the condi­ collaborators (1969) collected 43 families the clinical picture was re­ tion but have rarely been available families in whom more than one markably similar to that in our pa­ (Paskind and Stone 1933, Christen- member had cerebral palsy, and tients (Wolfslast 1943, Blumel et al sen and Melchior 1967). In a these included 16 families with iden­ 1957, Baar and Gabriel 1966). How­ Swedish survey, Gustavsson et al tical syndromes and a history of ever, the condition may also be clin­ (1969) concluded that about 1.5% of normal pregnancy, delivery and ically indistinguishable from all cases of cerebral palsy were inh­ perinatal period. Among these 16 Pelizaeus-Merzbacher disease with erited as an autosomal recessive, families, which were of main genetic a very slow course. while other modes of inheritance were rarer. In ataxic forms of cerebral palsy PEDIGREE OF M. FAMILY the proportion of hereditary cases IRISH MOHAWK INDIAN ENGLISH ENGLISH appears greater than in the purely spastic type. Ingram (1962) sug­ i> 4 gested that two major categories of ataxic cerebral palsy could be de­ fined, namely "ataxia" and "ataxic SCOTTISH diplegia." The former tends to be 0+ Q+ i. accompanied by persistent 3 4 5 6 hypotonia dating from birth, while the latter shows some features of spastic diplegia associated with the ataxia. In an analysis of 29 patients with congenital ataxia and 33 pa­ o+ n6 7 - tients with ataxic diplegia, Ingram found that about one-half of each group had been delivered normally after normal pregnancies and that one-half of the mothers' previous IV i in. pregnancies had resulted in abor­ 12 3 4 5 / 7 8 9 10 11 12 tion, perinatal or infant death, or the birth of an abnormal child. Also, • = AFFECTED WITH ATAXIC DIPLEGIA about 20% of the ataxic children had associated major developmental + = Xg(a+) malformations. Skatvedt (1958) had - = Xg(a-) previously pointed out that patients Figure 1. Pedigree of patients' family. H. G. Dunn et al NOVEMBER 1974 - 227 Downloaded from https://www.cambridge.org/core. IP address: 170.106.33.22, on 02 Oct 2021 at 09:33:22, subject to the Cambridge Core terms of use, available at https://www.cambridge.org/core/terms. https://doi.org/10.1017/S0317167100019818 THE CANADIAN JOURNAL OF NEUROLOGICAL SCIENCES CASE 1 (IV. 6) having a D.Q. of 65-75 on the same test a CM., a Canadian boy, is the younger year earlier. Chromosome analysis then of 2 children, and hjs older sister and showed him and his mother to have a parents are healthy (Fig.
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