Hostname: page-component-cd9895bd7-fscjk Total loading time: 0 Render date: 2024-12-25T02:45:45.521Z Has data issue: false hasContentIssue false
  • English
  • Français

Genetic Counseling in Neurology

Published online by Cambridge University Press:  01 August 2014

P. Dodinval
P. Dodinval*
Affiliation:
Service de Génétique Humaine, Université de Liège, Belgique
*
Service de Génétique Humaine, Université de Liège, 40 quai G. Kurth, 4000-Liège, Belgium

Abstract

Core share and HTML view are not available for this content. However, as you have access to this content, a full PDF is available via the ‘Save PDF’ action button.

This review deals with CNS troubles and anomalies (excluding mental defects and oligophrenia, as well as primary muscular degenerations), that account for approximately 25 percent of all cases of genetic counseling in our material.

From a genetic-counseling perspective, CNS affections may be easily classed as follows: (1) congenital malformations; (2) monofactorial Mendelian affections; (3) diseases with a possibly hereditary disposition (e.g., arthrogryposis); (4) infant cerebral palsies; and (5) epilepsies.

In our own material, CNS congenital malformations account for approximately 60 percent of all cases of neurologic genetic counseling, whereas Mendelian affections account for only 20 percent and epilepsies for 15 percent. They mainly include cases of hydrocephaly, anencephaly, spina bifida, and microcephaly, for which the recurrence risk is mostly empirical. Emphasis is laid on the present possibilities of prenatal detection of some of these malformations.

Type
2. Genetic Counseling and the Detection of Carriers in Neurology
Information
Acta geneticae medicae et gemellologiae: twin research , Volume 23 , supplement S1 , January 1974 , pp. 59 - 81
Copyright
Copyright © The International Society for Twin Studies 1974

References

BIBLIOGRAPHIE

Adams, R.D., Denny-Brown, D., Pearson, C.M. 1962. Diseases of Muscle. New-York: Hoeber.Google Scholar
Barbeau, A., Brunette, J.R (eds.) 1969. Progress in Neuro-Genetics. Proc. 2nd Int. Congr. Neuro-Genet. Neuroophthalmol. of the World Federation of Neurology, Montreal 1967. Vol. I. Amsterdam: Excerpta Medica Foundation, Int. Congr. Ser. n. 175.Google Scholar
Becker, P.E. 1964. Dominant erbliche Myodysplasia fibrosa multiplex (dominante arthrogryposis). Becker, P.E. (ed.): Humangenetik — Ein kurzes Handbuch in 5 Bänden, [p. 459]. Stuttgart: Thieme.Google Scholar
Bickers, D.S., Adams, R.D. 1949. Hereditary stenosis of the aqueduct of Sylvius as a cause of congenital hydrocephalus. Brain, 72: 246–262.Google Scholar
Brandon, M.W.G., Kirman, B.H., Williams, C.E. 1959. Microcephaly. J. Ment. Sc., 105: 721.Google Scholar
Bray, P.F., Wiser, W.C., Wood, M.C., Pusey, S.B. 1965. Hereditary characteristics of familial temporalcentral focal epilepsy. Pediatrics, 36: 207–212.CrossRefGoogle ScholarPubMed
Brock, J.H., Sutcliffe, R.G. 1972. Alpha-foetoprotein in the antenatal diagnosis of anencephaly and spina-bifida. Lancet, 2: 197–199.Google Scholar
Bundey, S., Evans, K. 1969. Tuberous sclerosis: a genetic study. J. Neurol. Neurosurg. Psychiatry, 32: 591–603.CrossRefGoogle ScholarPubMed
Burguet, W., Hennen, G., Chantraine, A., Dodinval, P. 1967. Maladie de Charcot-Marie-Tooth dans une famille belge. Fréquence relative du pied creux et des anomalies de la conduction nerveuse. J. Neurol. Sci., 4: 559–570.Google Scholar
Campbell, S., Holt, E.M., Johnstone, F.D., May, P. 1972. Anencephaly: early ultrasonic diagnosis and active management. Lancet, 2: 1226–1227.CrossRefGoogle ScholarPubMed
Campbell, S. 1973. Ultrasonic detection of fetal abnormality. Abstracts 4th Int. Conf. Birth Defects [p. 13]. Excerpta Medica, Int. Congr. Ser. n. 297.Google Scholar
Carter, C.O., David, P.A., Laurence, K.M. 1968. A family study of major central nervous system malformations in South Wales. J. Med. Genet., 5: 81–106.Google Scholar
Carter, C.O., Fraser-Roberts, J.A. 1967. The risk of recurrence after two children with central-nervous-system malformations. Lancet, 1: 306–308.CrossRefGoogle ScholarPubMed
Christian, J.C., Andrews, P.A., Conneally, P.M., Muller, J. 1971. The adducted thumbs syndrome. An autosomal recessive disease with arthrogryposis, dysmyelination, craniostenosis and cleft palate. Clin. Genet., 2: 95–103.Google Scholar
Clow, C.L., Fraser, F.C., Laberge, C., Scriver, C.R. 1973. On the application of knowledge to the patient with genetic disease. In Steinberg, A.G. and Beam, A.G. (eds.): Progress in Medical Genetics [Vol. 9, pp. 159–213]. New York and London: Grune & Stratton.Google Scholar
Crowe, F.W., Schull, W.J., Neel, J.V. 1956. A Clinical, Pathological and Genetic Study of Multiple Neurofibromatosis. Springfield: C.C. Thomas.Google Scholar
Dodinval, P., Clement-Van Leeuw, L., Obee, F., Parent, M.T. 1972. La consultation de génétique médicale au service de génétique humaine. Fonctionnement et résultats. Rev. Med. Liège. 27, Suppl. 1: 141–147.Google ScholarPubMed
Drachman, D.B., Banker, B.Q. 1961. Arthrogryposis multiplex congenita. Arch. Neurol., 5: 77.CrossRefGoogle ScholarPubMed
Drachman, D.B. 1971. The syndrome of arthrogryposis multiplex congenita. Birth Defects, 7, n. 2: 90–97.Google ScholarPubMed
Dubowitz, V. 1967. Hereditary proximal spinal muscular atrophy—single or multiple genes? In: Barbeau, et Brunette, 1969, p. 789.Google Scholar
Elshove, J., Van Eck, J.H.M. 1971. Aangeboren misvormingen, met name gespleten lip met of zonder gespleten verhemelte, bij kinderen van moeders met epilepsie. Ned. Tijdschr. Geneesk., 115: 1371–1375.Google Scholar
Falek, A. 1969. Preclinical detection of Huntington's chorea — Preliminary report. In: Barbeau, et Brunette, 1969, pp. 529–533.Google Scholar
Fanconi, G. 1934. Zur Diagnose und Therapie hydrozephalischer und verwandter Zustände. Schweiz. Med. Wochenschr., 64: 214.Google Scholar
Ferguson-Smith, M. 1973. Spina-bifida: early detection by amniotic fluid alpha-fetoprotein followed by termination of pregnancy. Abstracts 4th Int. Conf. Birth Defects, [p. 1]. Excerpta Medica, Int. Congr. Ser. n. 297, Suppl.Google Scholar
Fowler, M., Brown, C., Cabrera, K.F. 1971. Hydrencephaly in a baby after an aircraft accident to the mother: case report and autopsy. Pathology, 3: 21–30.CrossRefGoogle Scholar
Frézal, J., Kelley, J., Guillemot, M.J., Lamy, M. 1964. Anencephaly in France. Am. J. Hum. Genet., 16: 336–350.Google Scholar
German, J., Kowal, A., Ehlers, K.H. 1970. Trimethadione and human teratogenesis. Teratology, 3: 349–362.CrossRefGoogle ScholarPubMed
Hill, D. 1963. Epilepsy: clinical aspects. In Hilland, G. Parr, G. (eds.): Electroencephalography [pp. 250–294]. London: Mac Donald.Google Scholar
Husquinet, H. 1970. La Chorée de Huntington dans Quatre Provinces Belges. Étude Historique et Épidémiologique. Rapport de Neurologie du 62e Congrès de Psychiatrie et de Neurologie de Langue Française, [pp. 183–212]. Paris: Masson et Cie.Google Scholar
Husquinet, H. 1973. Epidemiology and history of Huntington's chorea in Belgium. In Barbeau, A., Chase, T.N., and Paulson, G.W. (eds.): Advances in Neurology. Huntington's Chorea 1872-1972. [Vol. 1, pp. 245–252]. New York: Raven Press.Google Scholar
Husquinet, H., Franck, G., Vranckx, C. 1973. Detection of future cases of Huntington's chorea by the L-DOPA load test: experiment with two monozygotic twins. In Barbeau, A., Chase, T.N., and Paulson, G.W. (eds.): Advances in Neurology. Huntington's Chorea 1872-1972. [Vol. 1, pp. 301–310]. New York: Raven Press..Google Scholar
Klawans, H.L., Paulson, G.W., Barbeau, A. 1970. Predictive test for Huntington's chorea. Lancet, 2: 1185–1186.CrossRefGoogle ScholarPubMed
Koppe, J.G., Bosman, W., Oppers, V.M., Spaans, F., Kloosterman, G.J., De Bruijne, J.L. 1973. Epilepsy and congenital malformations. Abstracts 4th Int. Conf. Birth Defects, [p. 52]. Excerpta Medica, Int. Congr. Ser. n. 297.Google Scholar
Lebenthal, E.,Shochet, S.B., Adam, A., Seelenfreund, M., Fried, A., Najenson, T., Sandbank, U., Matoth, Y. 1970. Arthrogryposis multiplex congenita: twenty three cases in an Arab kindred. Pediatrics, 46: 891–899.Google Scholar
Lorber, J. 1965. The family history of spina-bifida cystica. Pediatrics, 35: 589–595.CrossRefGoogle ScholarPubMed
Lorber, J., Levick, K. 1967. Spina-bifida cystica. Incidence of spina-bifida occulta in parents and in controls. Arch. Dis. Child., 42: 171–173.Google Scholar
Löwenthal, A. 1954. Un groupe hérédo-dégénératif nouveau: les myoscléroses hérédo-familiales. Acta Neurol. Belg., 54: 155–165.Google Scholar
Martin-Sneessens, L. 1962. Formes à évolution très prolongée de l'amyotrophie spinale de Werdnig-Hoffmann. J. Genet. Hum., 11: 251–269.Google Scholar
Martin, C., Got, M., Babin, J.P., Cazauran, J.M. 1971. Hydrocéphalie familiale, maladie héréditaire récessive gonosomique (syndrome de Bickers et Adams). Arch. Fr. Pediatr., 28: 971–974.Google ScholarPubMed
Masterson, J.G. 1962. Empiric risk, genetic counseling and preventive measures in anencephaly. Acta Genet., 12: 219–229.Google Scholar
Metrakos, J.D., Metrakos, K. 1966. Childhood epilepsy of subcortical (“centrencephalic”) origin. Clin. Pediatr., 5: 536–542.Google Scholar
Miller, J.R., Fraser, F.C., Mc Evan, D.W. 1962. The frequency of spina-bifida occulta and rib anomalies in the parents of children with spina-bifida aperta and meningocoele. Am. J. Hum. Genet., 14: 245–248.Google Scholar
Miller, R.W., Blot, W.J. 1972. Small head size after in-utero exposure to atomic radiation. Lancet, 2: 784.Google Scholar
Munsat, T.L., Woods, R., Fowler, W., Pearson, C.M. 1969. Neurogenic muscular atrophy of infancy with prolonged survival. The variable course of Werdnig-Hoffmann disease. Brain, 92: 9–24.CrossRefGoogle ScholarPubMed
Nance, W.E. 1969. Anencephaly and spina-bifida: a possible example of cytoplasmic inheritance in man. Nature, 224: 373–375.CrossRefGoogle ScholarPubMed
Nevin, N.C., Pearce, W.G. 1968. Diagnostic and genetical aspects of tuberous sclerosis. J. Med. Genet., 5: 273–280.Google Scholar
Pfeiffer, R.A., Huther, W. 1963. Trisomie des Chromosomes n. 18 un ter dem Bild einer Arthrogryposis multiplex congenita. Med. Klin., 58: 1110.Google Scholar
Philippart, M. 1961. Neurofibromatose héréditaire à large spectre phénotypique. J. Genet. Hum., 10: 338–346.Google Scholar
Post, R.H. 1966. Pilot study: population differences in the frequency of spina-bifida occulta. Eugen. Quart., 13: 341–352.Google Scholar
Poswillo, D.E., Sopher, D., Mitchell, S. 1972. Experimental induction of foetal malformation with “blighted” potato: a preliminary report. Nature, 239: 462–464.Google Scholar
Pratt, R.T.C. 1967. The Genetic of Neurological Disorders [p. 49]. London: Oxford University Press.Google Scholar
Reed, T.E., Chandler, J.H. 1958. Huntington's chorea in Michigan. I. Demography and genetics. Am. J. Hum. Genet., 10: 201–225.Google Scholar
Renwick, J.H. 1972. Hypothesis: anencephaly and spina-bifida are usually preventable by avoidance of a specific but unidentified substance present in certain potato tubers. J. Prev. Soc. Med., 26: 67.Google Scholar
Sareen, C.K., Ruvalcaba, R.H.A., Scotvold, M.J., Mahoney, C.P., Kelley, V.C. 1972. Tuberous sclerosis: clinical, endocrine and metabolic studies. J. Am. Med. Ass., 123: 34–39.Google Scholar
Schmorl, G., 1959 cité in Post 1966.Google Scholar
Scrimgeour, J.B. 1973. Fetoscopy. Abstracts 4th Int. Conf. Birth Defects, [p. 13]. Excerpta Medica, Int. Congr. Ser. n. 297.Google Scholar
Smithells, R.W., Chinn, E.R., Franklin, D. 1964. Anencephaly in Liverpool. Dev. Med. Child. Neurol., 6: 231–240.Google Scholar
Speidel, B.D., Meadow, S.R. 1972. Maternal epilepsy and abnormalities of the foetus and new born. Lancet, 2: 839–843.Google Scholar
Stevenson, A.C., Johnston, H.A., Stewart, M.I.P., Golding, D.R. 1966. Congenital malformations. A report of a study of series of consecutive births in 24 centres. Bull. W.H.O., Suppl. Vol. 34: 25–35.Google Scholar
Stevenson, A.C., Davison, B.C.C. 1970. Genetic Counselling. London: Heinemann Medical Books Ltd.Google Scholar
Sutow, W.N., Pryde, A.W. 1956. Incidence of spinabifida occulta in relation to age. Am. J. Dis. Child., 91: 211–217.Google Scholar
Todorov, A. 1973. Les anticonvulsivants sont-ils teratogenes? Méd. et Hyg., 31: 903.Google Scholar
Tsuboi, T., Christian, W. 1973. On the genetic of the primary generalized epilepsy with sporadic myoclonias of impulsive petit-mal type. Humangenetik, 19: 155–182.Google ScholarPubMed
Tünte, W. 1964. Zur Häufigkeit der Anencephalie und Spina-bifida aperta in Regierungsbezirk Münster. Z. Menschl. Vererb. Konstitutionslehre, 37: 525–530.Google Scholar
Warkany, J. 1971. Congenital Malformations, [pp. 1260–1265]. Chicago: Year Book Medical Publisher.Google Scholar
Williamson, E.M. 1965. Incidence and family aggregation of major congenital malformations of central nervous system. J. Med. Genet., 2: 161–172.CrossRefGoogle Scholar
Winsor, E.H., Murphy, E.G., Thompson, M.W., Reed, T.E. 1971. Genetics of childhood spinal muscular atrophy. J. Med. Genet., 8: 143–148.CrossRefGoogle ScholarPubMed