Hostname: page-component-78c5997874-94fs2 Total loading time: 0 Render date: 2024-11-07T22:22:11.139Z Has data issue: false hasContentIssue false
  • English
  • Français

Tapetoretinal Degenerations in Spinocerebellar Degenerations (Heredoataxias)

Published online by Cambridge University Press:  01 August 2014

J. François
J. François*
Affiliation:
Department of Ophthalmology, University of Ghent, 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.

The association of hereditary spino-ponto-cerebellar degenerations with tapetoretinal degenerations of varying types, and particularly with Stargardt's macular degeneration, is not rare, as at the present time more than 200 cases are known. Therefore the one-gene hypothesis seems to be the most plausible. The fact that there exist complex neuroophthalmological forms near purely neurological or purely retinal forms, is also in favour of one gene with polyphenic manifestation.

Type
1. Tapetoretinal Degenerations and CNS Genetic Disease
Information
Acta geneticae medicae et gemellologiae: twin research , Volume 23 , supplement S1 , January 1974 , pp. 3 - 24
Copyright
Copyright © The International Society for Twin Studies 1974

References

REFERENCES

Ajenberg, Cornil, Mans, J. 1961. Contribution à l'étude de la maladie de Friedreich. Ann. Med. Psychol., 119: 772–776.Google Scholar
Alabastro, A. 1947. Contributo allo studio della trasmissione ereditaria della retinite pigmentosa con mioclono-epilessia. Riv. Oto-Neuro-Oftal., 22: 389–396.Google Scholar
Alfano, J.E., Berger, J.P. 1957. Retinitis pigmentosa, opthalmoplegia and spastic quadriplegia. Am. J. Ophthalmol., 43: 231–240.CrossRefGoogle Scholar
Andre-Van Leeuwen, M., Babel, J., Van Bogaert, L., Franceschetti, A., Klein, D., Montandon, A. 1948. Hérédo-ataxies par dégénérescence spino-pontocérébelleuse. Rev. Otoneurophtalmol., 20: 1–230.Google Scholar
Arnould, G., Dureux, J., Hartemann, P. 1955. Un cas de lacune crânienne congénitale avec manifestations neurologiques (syndrome cérébello-spasmodique, épilepsie, déficience mentale) et ophtalmologique (dégénérescence maculaire). Rev. Neurol. (Paris), 93: 838–843.Google Scholar
Arnould, G., Tridon, P., Laxenaire, M., Thiriet, M. 1965. Rétinite pigmentaire et hérédodégéné-rescence (à propos de deux cas). Rev. Otoneuroophtalmol., 37: 233–238.Google Scholar
Babel, J. 1948. Anatomie pathologique des dégénérescences tapéto-rétiniennes accompagnant les hé-rédoataxies. Rev. Otoneuroophtalmol., 20: 167–180.Google Scholar
Badtke, G., Timmer, G. 1961. Familiäre kongenitale Ataxie. Der Augenarzt, 4: 531.Google Scholar
Bamatter, F., Franceschetti, A., Klein, D. 1961. Aspects cliniques, ophtalmologiques et génétiques des abiotrophies neurorétiniennes en pédiatrie. Proc. 18th Congr. Ass. Péd. Langue Franç., Genève 1961. [II, pp. 1–120]. Basel: Ed. Karger.Google Scholar
Bardet, G. 1920. Sur un syndrome d'obésité infantile avec polydactylie et rétinite pigmentaire (Contribution à l'étude des formes cliniques et l'obésité hypophysaire). Thesis, Paris.Google Scholar
Barnard, R.O., Scholz, R.O. 1944. Ophthalmoplegia and retinal degeneration. Am. J. Ophthalmol., 27: 621–624.CrossRefGoogle Scholar
Barraquer-Bordas, L., Mari-Battlo, J., Ruiz-Lara, R., Talayero, J.M. 1954. Hérédo-ataxie cérébelleuse avec paralysie du regard. Confin. Neurol., 13: 203–210.CrossRefGoogle Scholar
Barré, J.A., Rohmer, F. 1948. Surdité progressive, syndrome de Parinaud, troubles cérébelleux, dysréflexie vestibulaire croisée, chez un garçon de 16 ans. Troubles dégénératifs et ptosis chez plusieurs membres de la famille. Confin. Neurol., 8: 330–335.CrossRefGoogle Scholar
Bassen, F.A., Kornzweig, A.L. 1950. Malformations of the erythrocytes in a case of atypical retinitis pigmentosa. Blood, 5: 381–387.CrossRefGoogle Scholar
Becker, P.E. 1966. Krankheiten mit hauptsächlicher Beteiligung des spino-zerebellaren Systems (Erbliche Ataxien). In Becker, P.E. (ed.): Humangenetik. [V/1, pp. 208–313]. Stuttgart: G. Thieme.Google Scholar
Bell, J., Carmichael, E.A. 1939. On hereditary ataxia and spastic paraplegia. In Bell, J., (ed.): The Treasury of Human Inheritance. [4, part. 3, pp. 141–281]. Cambridge University Press.Google Scholar
Bergstedt, M., Johansson, S., Müller, R. 1962. Hereditary spastic ataxia with central retinal degeneration and vestibular impairment. A clinical report on a family. Neurology (Minneap.), 12: 124–132.CrossRefGoogle ScholarPubMed
Bessière, E., Julien, R.G. 1951. Alternance dans une même famille de formes neurologiques, otologiques et tapéto-rétiniennes d'hérédo-dégéné-rescence. Bull. Soc. Ophtalmol. Fr., 51: 879–881.Google Scholar
Bessière, E., Chabot, J., Vérin, P. 1962. Sur une associa-tion de maladie de Stargardt et de dégénére-scence spino-ponto-cérébelleuse. Bull. Soc. Ophtalmol. Fr., 75: 285–293.Google Scholar
Biedl, A. 1922 a. Adiposo-genitale Dystrophie. Ver. Dtsch. Aerzte, Prague Med. Klin., 18: 1041.Google Scholar
Biedl, A. 1922 b. Ein Geschwisterpaar mit adiposogenitaler Dystrophie. Dtsch. Med. Wochenschr., 48: 1630.Google Scholar
Bigorgne, J., Halot-Boyer, P., Hermann, P. 1971. Dégénérescence tapéto-rétinienne et hérédo-ataxie: à propos d'une famille. Bull. Soc. Ophtalmol. Fr., 71: 361–364.Google Scholar
Björk, A., Lindblom, U., Wadensten, L. 1956. Retinal degeneration in hereditary ataxia. J. Neurol. Neurosurg. Psychiatry, 19: 186–193.CrossRefGoogle ScholarPubMed
Bonnet, P. 1946. Aspects pathologiques du fond de l'oeil dans les affections de la rétine. In Renard, G.: Atlas Ophtalmoscopique. [pp. 78–81]. Paris: Masson.Google Scholar
Botermans, C.H.G. 1972. Primary pigmentary retinal degeneration and its association with neuro-logical diseases. In Vinken, P.J. and Bruyn, G.W. (eds.): Handbook of Clinical Neurology. [13, pp. 148–379]. Amsterdam: North Holland Publishing Co. Google Scholar
Boucher, B.J., Gibberd, F.B. 1969. Familial ataxia, hypogonadism and retinal degeneration. Acta Neurol. Scand., 45: 507–510.CrossRefGoogle ScholarPubMed
Boudin, G., Barbizet, J., Le Henaf, M.Y. 1952. Hérédo-ataxie cérébelleuse avec amblyopic et paralysie de la verticalité du regard chez la mère et l'enfant. Rev. Neurol. (Paris), 87: 330–335.Google Scholar
Boyazis, R.M., Hariga, J., Myle, G. 1968. Hérédoataxies et dégénérescences tapéto-rétiniennes. Relations génétiques. Encéphale, 57: 495–514.Google Scholar
Capute, A.J. 1973. Personal communication.Google Scholar
Carpenter, S., Schumacher, G.A. 1966. Familial infantile cerebellar atrophy associated with retinal degeneration. Arch. Neurol., 14: 82–94.CrossRefGoogle ScholarPubMed
Charcot, J.B., Marie, P. 1886. Sur une forme particulière d'atrophie musculaire progressive souvent familiale débutant par les pieds et les jambes et atteignant plus tard les mains. Rev. Med. Google Scholar
Clauss, O. 1924. Ueber hereditäre, cerebellare Ataxie in Verbindung mit Pigmentdegeneration der Retina (Retinitis pigmentosa) und Degeneration des Nervus cochlearis. Z. Gesamte Neurol. Psychiatr., 93: 294–298.CrossRefGoogle Scholar
Danis, P., Brihaye-Van Geertruyden, M. 1962. Personal communication, cited by Franceschetti et al. 1963.Google Scholar
De Marco, P. 1968. Degenerazione retinica e oftalmoplegia associata a eredo-atassia cerebellare. Riv. Patol. Nerv. Ment., 89: 34–46.Google Scholar
De Mello, A.R. 1942 a. Atrofia girata de coroide e da retina. Arq. Bras. Med., 32: 153–157.Google Scholar
De Mello, A.R. 1942 b. Heredo-degeneraçao cerebroespinhal. Arq. Bras. Med., 32, 109–122.Google Scholar
De Mello, A.R. 1943. Heredo-degeneraçao cerebroespinhal. Arq. Bras. Med., 33: 49 and 181.Google Scholar
Dercum, F.X. 1925. Two cases of retinitis pigmentosa occurring in brothers, one associated with a spastic symptoms group. Arch. Neurol. Psychiatr., 651–652.Google Scholar
De Vic, A., Kapsalas, G. 1930. Remarques sur le début de la maladie de Friedreich. Formes paralytiques et diagnostic avec les myopathies. J. Neurol. (Bruxelles), 30: 832–837.Google Scholar
Dureux, J.B. 1955. Le problème des malformations associées, les génopathies et les embryopathies neuroophtalmologiques, leur incidence au cours des malformations du squelette cranio-facial. Thesis, Nancy.Google Scholar
Euzière, J., Lafon, R., Mercadier, , Cazaban, R., Bayon, P. 1952. Hérédo-ataxie cérébelleuse et paralysie familiale de la verticalité du regard. Rev. Neurol. (Paris), 87: 323–329.Google Scholar
Evans, A.T.G. 1954. Essential atrophy of the choroid with paraplegia and a strong family history of similar conditions. Trans. Ophthalmol. Soc. U.K., 74: 215–217.Google Scholar
Fanconi, G., Türler, U. 1951. Kongenitale Kleinhirnatrophie mit supranucleären Störungen der Motilität der Augenmuskeln. Helv. Paediatr. Acta, 6: 475–483.Google Scholar
Ferguson, F.R., Critchley, M. 1929. A clinical study of a heredo-familial disease resembling multiple sclerosis. Brain, 52: 203–225.CrossRefGoogle Scholar
Fialho Filho, A. 1937. Atrophia gyrata chorioideae et retinae num patiente com gerodermia genito dystrophica. Ann. Ocul. (Rio de Janeiro), 5: 15–34.Google Scholar
Figini, H.A., Poch, G.F., Castelli, R. 1963. Oftalmoplejia externa heredo-familiar con arreflexia y ataxia. Rev. Neurol. (Buenos Aires), 21: 70.Google Scholar
Flament, J., Van Reeth, P., Toussaint, D., Flament-Durand, J. 1958. Association d'épilepsie psychomotrice, d'une hyperkinésie choréiforme d'apparition tardive (chorée sénile?) et d'anomalies oculaires (rétinite pigmentaire). Acta Neurol. Bélgica, 58: 899–912.Google Scholar
Foster, J.B., Ingram, T.T.S. 1962. Familial cerebromacular degeneration and ataxia. J. Neurol. Neurosurg. Psychiatry, 25: 63–68.CrossRefGoogle ScholarPubMed
Fotopulos, D., Schulz, H. 1962. Isolierte chronisch progressive Ophthalmoplegia externa als Frühzeichen einer spino cerebellaren (Friedreichschen) Ataxie. Psychiatr. Neurol. Med. Psychol., 14: 286.Google Scholar
Franceschetti, A., Klein, D. 1941. Ueber das Vorkommen von hereditärer juveniler Maculadegeneration (Typus Stargardt) bei zwei Geschwisterpaaren der Friedreich-Sippe “Glaser”. Arch. Julius Klaus Stift. Vererbungsforsch. 16: 469–494.Google Scholar
Franceschetti, A., De Morsier, G., Klein, D. 1945. Ueber eine neue kombinierte Form von zere-bellarer Heredo-Ataxie (Pierre Marie) mit Ophthalmoplegia externa progressiva bei 4 Geschwistern. Arch. Julius Klaus Stift. Vererbungsforsch., 20: 59–81.Google Scholar
Franceschetti, A., Klein, D. 1947 a. Weiterer Beitrag zur Frage der genetischen Beziehungen zwischen der Friedreichschen Ataxie und den verschiedenen Formen der tapeto-retinalen Degenerationen. Bull. Acad. Suisse Sc. Med., 2: 321–330.Google Scholar
Franceschetti, A. Klein, D. 1947 b. Weiterer Beitrag zur Frage der genetischen Beziehungen zwischen der Friedreich'schen Ataxie und den verschiede-nen Formen der tapeto-retinalen Degenerationen, Retinitis pigmentosa und Retinitis punctata albescens in zwei Verwandtengruppen der Fried-reich-Sippe “Glaser”. Arch. Julius Klaus Stift. Vererbungsforsch., 22: 93–121.Google Scholar
Franceschetti, A., Klein, D. 1948. Les manifestations tapéto-rétiniennes et leur importance clinique et génétique dans les hérédo-ataxies. Rapport XIV Congr. Soc. ONO, Toulouse, 1948. Rev. Otoneuroophtalmol., 20: 109–166.Google Scholar
Franceschetti, A., François, J., Babel, J. 1963. Les Hérédo-Dégénérescences Choriorétiniennes (Dégénérescences Tapéto-Rétiniennes). Paris: Ed. Masson.Google Scholar
François, J., Descamps, L. 1949. Hérédo-ataxie par dégénérescence spino-ponto-cérébelleuse avec manifestations tapéto-rétiniennes et cochléo-vestibulaires. Acta Neurol. Belgica, 49: 631–647.Google Scholar
François, J., Descamps, L. 1951. Hérédo-ataxie par dégénérescence spino-cérébelleuse avec manifestations tapéto-rétiniennes et cochléo-vestibulaires. Monatsschr. Psychiatr., 121: 23–38.CrossRefGoogle Scholar
François, J. 1958. L'Hérédité en Opthalmologie. Paris: Ed. Masson.Google Scholar
Frey, K. 1912. Zwei Stammbäume von hereditärer Ataxie. Dtsch. Z. Nervenheilk., 44: 351–380.CrossRefGoogle Scholar
Froment, J., Bonnet, P., Colrat, A. 1937. Hérédo-dégénérations rétiniennes et spino-cérébelleuses. Variantes ophtalmoscopiques et neurologiques par trois générations successives. J. Med. Lyon, 18: 153–162.Google Scholar
Furukawa, P., Takagi, A., Nakao, K., Sugita, H., Tsukagoshi, H., Tsubaki, T. 1968. Hereditary muscular atrophy with ataxia, retinitis pigmentosa and diabetes mellitus. A clinical report of a family. Neurology (Minneap.), 18: 942–947.CrossRefGoogle ScholarPubMed
Géraud, J., Gayrai, L., Stern, H., Millet, L., Turnin, J. 1965. Symptomes neuro-oculaires du syndrome de Marinesco-Sjögren. Proc. 1st. Int. Congr. Neurogenetics and Neuroophthalmol., Albi 1965. [pp. 209–213]. Basel 1968: Karger.Google Scholar
Giddings, G. 1927. Friedreich's ataxia in ten members of a family. IAMA, 89: 1395–1397.CrossRefGoogle Scholar
Gordon, A.M., Capute, A.J. 1973. Familial spastic diplegia with pigmentary degeneration of retina and deafness. (In press.).Google Scholar
Hagen, P.B., Noad, K.B., Latham, O. 1951. The syndrome of lamellar cerebellar degeneration associated with retinitis pigmentosa, heterotopias and mental deficiency. With a report of a case. Med. J. Austr., 1: 217–223.CrossRefGoogle ScholarPubMed
Hallervorden, J. 1937. L'ataxie héréditaire. In Bumke and Foerster (eds.): Handbuch der Neurologie, [16, pp. 457–497]. Berlin: Springer.Google Scholar
Hallgren, B. 1959. Retinitis pigmentosa combined with congenital deafness, vestibulocerebellar ataxia and mental abnormality in a proportion of cases. A clinical and genetico-statistical study. Acta Psychiatr. Scand. [Suppl.], 138: 1–101.Google Scholar
Halsey, J.H. Jr., Scott, T.R., Farmer, T.W. 1967. Adult hereditary cerebello-retinal degeneration. Neurology (Minneap.), 17: 87–90.CrossRefGoogle Scholar
Hanhart, E. 1923 a. Beiträge zur Konstitutions — und Vererbungs — forschung and Hand von Studien ueber hereditäre Ataxien. Schweiz. Med. Wochenschr., 53: 139–143.Google Scholar
Hanhart, E. 1923 b. Weitere Ergebnisse einer Sammelforschung ueber die Friedreichsche Krankheit (hereditäre Ataxie) in der Schweiz. Schweiz. Arch. Neurol. Psychiatr., 13: 297–312.Google Scholar
Hanhart, E. 1924. Ueber die Bedeutung der Erbforschung von Inzuchtgebiete an Hand von Ergebnisse bei Sippen mit hereditärer Ataxie, heredodegenerativem Zwergwuchs und spora-discher Taubstummheit. Schweiz. Med. Wochenschr., 54: 1143–1151.Google Scholar
Hanhart, E. 1941. Zur geographischen Verbreitung der Erbkrankheiten (Mutationen) mit besonderer Berücksichtigung der Schweiz. Schweiz. Med. Wochenschr., 71: 861–864.Google Scholar
Hariga, J. 1965. A propos d'un cas de syndrome de Marinesco-Sjögren. Sa position dans le cadre des hérédoataxies. Proc. 1st. Int. Congr. Neurogenetics and Neuroophthalmol., Albi 1965, [pp. 214–218]. Basel 1968: Karger.Google Scholar
Hariga, J., Moutschen, J. 1968. On the inheritance of heredo-ataxias. Hum. Hered., 19: 457–472.CrossRefGoogle Scholar
Havener, W.H. 1951. Cerebellar macular abiotrophy. Arch. Opthalmol., 45: 40–43.CrossRefGoogle ScholarPubMed
Heck, A.F. 1963. Presumptive X-linked intermediate transmission of retinal degenerations, variations and coincidental occurrence with ataxia in a large family. Arch. Ophthalmol., 70: 143–149.CrossRefGoogle Scholar
Hutchinson, J. 1882. On retinitis pigmentosa and allied affections as illustrating the laws of heredity. Ophthalmol. Rev., 1: 2–7, 26–30.Google Scholar
Hutchinson, J. 1900. Slowly progressive paraplegia and disease of the chorioids with defective in-tellect and arrested sexual development in several brothers and a sister. Arch. Surg. (London), 2: 118–122.Google Scholar
Jager, B.V., Fred, H.L., Butler, R.B., Carnes, W.H. 1960. Occurrence of retinal pigmentation, ophthalmoplegia, ataxia, deafness and heart block. Report of a case with findings at autopsy. Am. J. Med., 29: 888–893.CrossRefGoogle ScholarPubMed
Jampel, R.S., Okazaki, H., Bernstein, H. 1961. Ophthalmoplegia and retinal degeneration associated with spinocerebellar ataxia. Arch. Ophthalmol., 66: 247–259.CrossRefGoogle ScholarPubMed
Jéquier, M., Michail, J., Streiff, E.B. 1944–1945. Paraplégie familiale et dégénérescence tapéto-rétinienne. Confin. Neurol., 6: 277–280.CrossRefGoogle Scholar
Jéquier, M., Streiff, E.B. 1947. Paraplégie, dystrophic squelettique et dégénérescence tapéto-rétinienne familiales. Arch. Julius Klaus Stift. Vererbungs-forsch., 22: 129–167.Google Scholar
Kapuscinski, W. 1934. Ueber familiäre Aderhautentartung mit ataktischen Störungen. Ber. Dtsch. Ophthalmol. Ges. (Heidelberg), 50: 13–19.Google Scholar
Kjellin, K.G. 1959. Familial spastic paraplegia with amyotrophy, oligophrenia and central retinal degeneration. Arch. Neurol., 1: 133–140.CrossRefGoogle ScholarPubMed
Konigsmark, B.W. 1973. Personal communication.Google Scholar
Landau, W.M., Gift, J.J. 1951. Hereditary spastic paraplegia and hereditary ataxia: a family demonstrating a variety of phenotype manifestations. Arch. Neurol. Psychiatr., 66: 346–354.CrossRefGoogle Scholar
Laurence, J.Z., Moon, R.C. 1866. Four cases of retinitis pigmentosa occurring in the same family and accompanied by general imperfections of development. Ophthalmol. Rev., 2: 32–41.Google Scholar
Ledic, P., Van Bogaert, L. 1960. Hérédo-dégénérescence cérébelleuse et spastique avec dégénérescence maculaire. J. Genet. Hum., 9: 140–157.Google Scholar
Lelong, M., Bertrand, I., Lereboullet, I. 1941. Affection dégénérative systématisée du protoneurone moteur et sensitivo-sensoriel. Rev. Neurol., 73: 243–245.Google Scholar
Lenoble, E., Aubineau, E. 1901. Deux cas de maladie nerveuse familiale intermédiaire entre la maladie de P. Marie (hérédo axtaxie cérébelleuse) et la maladie de Friedreich. Rev. Neurol., 9: 393–397.Google Scholar
Lenz, H., Purgyi, P. 1969. Heredoataxie, Pigmentdegeneration der Netzhaut, Hypobetalipoproteinämie. Wien Med. Wochenschr., 119: 499–500.Google Scholar
Lombard, G. 1956. Sur un cas d'atrophie cérébelleuse tardive associée à une dégénérescence rétinienne. Bull. Soc. Ophtalmol. Fr., 56: 610–612.Google Scholar
Louis-Bar, D. 1941. Sur un syndrome progressif comprenant des télangiectasies capillaires cu-tanées et conjonctivales symmétriques, à disposition naevoïde et de troubles cérébelleux. Confin. Neurol., 4: 32–42.Google Scholar
Louis-Bar, D., Pirot, G. 1945. Sur une paraplégie spasmodique avec dégénérescence maculaire chez deux frères. Ophthalmologica, 109: 32–43.CrossRefGoogle Scholar
Lugaresi, E., Rebucci, G.G. 1960. Retinite pigmentosa associata a malformazione ventricolare con sintomatologia psichica ed extrapiramidale insorta tardivamente. G. Psichiatr. Neuropat., 88: 687–698.Google Scholar
Macrae, W., Stieffel, J., Todorov, A. 1973. Recessive familial spastic paraplegia with retinal degeneration. Proc. 4th Int. Congr. Neurogenet. Neuroophthalmol.; Acta Genet. Med Gemellol. (Roma), 23: 249–252.Google Scholar
Magnus, W. 1899. Bidrag til caeren om de hereditaer familiaere nervesygdomme. Norsk Mag - Laegevidensk, 14: 265.Google Scholar
Mahloudji, M., Chuke, P.O. 1968. Familial spastic paraplegia with retinal degeneration. Johns Hopkins Med. J., 123: 142–144.Google ScholarPubMed
Mainzer, F., Saldino, R.M., Ozonoff, M.B., Minagi, H. 1970. Familial nephropathy associated with retinitis pigmentosa, cerebellar ataxia and skeletal abnormalities. Am. J. Med., 49: 556–562.CrossRefGoogle Scholar
Malamud, N., Cohen, P. 1958. Unusual form of cerebellar ataxia with sexlinked inheritance. Neurology, 8: 261–266.CrossRefGoogle ScholarPubMed
Marinesco, G., Draganesco, S., Vasiliu, D. 1931. Nouvelle maladie familiale caractérisée par une cataracte congénitale et un arrêt de développement somato-neuropsychique. Encéphale, 26:97 Google Scholar
Massion-Verniory, L., Dumont, E., Potvin, A.M. 1946. Rétinite pigmentaire compliquée d'une amyotrophic neurale (Charcot-Marie-Tooth). Rev. Neurol. (Paris), 78: 561–571.Google Scholar
Mollaret, P. 1939. Hérédo-dégénération spino-cérébelleuse. In: Encyclop. Med. Chir., Paris, pp. 17082–17084.Google Scholar
Montalban, E.A. 1952. Retinosis pigmentaria heredoataxia espino-cerebelosa e hypogenitalismo. 4th Congr. Panamer. Oftalmol., 3: 2068–2071.Google Scholar
Papp, Z., Gardo, S., Walawska, J., Kappeter, I. 1971. Spinocerebellar ataxia with primary amenorrhoea, oligophrenia and dominantly inherited cataract. Wien. Klin. Wochenschr., 83: 436–439.Google Scholar
Perrin, C. 1958. Corrélations audiométriques et électroencéphalographiques au cours des dégénérescences tapétorétiniennes. A propos de 22 observations. Les abiotrophies oto-neurorétiniennes. Rev. Laryngol. Otol. Rhinol. (Bord.), 79: 703–743.Google Scholar
Piton, J., Tiffeneau, R. 1939–1940. Maladie familiale du type de l'hérédo-ataxie. Rev. Neurol. (Paris), 72: 774–777.Google Scholar
Quarcoopome, C.O. 1970. A case of Laurence-Moon-Biedl syndrome with arachnodactyly in an African negro. Ghana Med. J., 9: 208–211.Google Scholar
Ravalico, G., Stanig, L. 1972. Degenerazione olivo-ponto-cerebellare associata ad atrofia corioretinica (osservaziône di due casi). Atti 54th Congr. Soc. Oftalmol. Ital., 28: 568–576.Google Scholar
Refsum, S. 1946. Heredopathia atactica polyneuritiformis. A familial syndrome not hitherto described. Acta Psychiatr. Scand. [Suppl.], 38: 1–301.Google Scholar
Renard, G. 1946. Dégénérescence cérébro-rétinienne. Rapport Soc. Franç. Ophtalmol., [pp. 78–81]. Paris: Masson.Google Scholar
Richards, B.W. 1950. Cataracts, ataxia and mental deficiency: a report of two cases. J. Ment. Sci., 96: 537.Google Scholar
Richter, R. 1950. Late cortical cerebellar atrophy. A form of hereditary cerebellar ataxia. Am. J. Hum. Genet., 2: 1–29.Google ScholarPubMed
Rimbaud, L., Viallefont, H., Balmes, A. 1932. Hérédoataxie cérébelleuse. Rev. Otoneuroophtalmol., 10: 697–700.Google Scholar
Rütimeyer, L. 1883. Ueber hereditäre Ataxie. Virchows Arch. Path. Anat., 91: 106–129.CrossRefGoogle Scholar
Rütimeyer, L. 1887. Ueber hereditäre Ataxie. Ein Beitrag zu den primären kombinierten Systemerkrankungen des Rückenmarks. Virchows Arch. Path. Anat., 110: 215–254.CrossRefGoogle Scholar
Ryan, S.J., Smith, R.E. 1971. Retinopathy associated with hereditary olivo-ponto-cerebellar degeneration. Am. J. Ophthalmol., 71: 838–843.CrossRefGoogle Scholar
Schob, F. 1921. Weitere Beiträge zur Kenntnis der Friedreich-ähnlichen Krankheitsbilder. Z. Gesamte Neurol. Psychiatr., 73: 188–238.CrossRefGoogle Scholar
Schutt, J.W. 1950. Hereditary ataxia. Clinical study through six generations. Arch. Neurol. Psychiatr., 63: 535–568.CrossRefGoogle Scholar
Seltzer, L., Rodenstein, J., Zimman, L. 1959. Acerca de un caso de heredodegeneraciôn espinocerebelosa con distrofia macular. Arch. Oftalmol. B. Aires, 33: 85–89.Google Scholar
Sjögren, T. 1943. Klinische und erbbiologische Untersuchungen ueber die Heredo-Ataxien. Acta Psychiatr. Scand., [Suppl.], 27.Google Scholar
Sjögren, T. 1950. Hereditary congenital spino-cere-bellar ataxia accompanied by congenital cataract and oligophrenia. A genetic and clinical investigation. Confin. Neurol., 10: 193–308.Google ScholarPubMed
Sjogren, T., Larsson, T. 1957. Oligophrenia in combination with congenital ichthyosis and spastic disorders. Acta Psychiatr. Scand., [Suppl.], 113: 1–112.Google ScholarPubMed
Skre, H. 1972. Epidemiologic investigation of heredoataxia in Western Norway. Personal communication.Google Scholar
Stadlin, W. 1949. Altérations choriorétiniennes chez deux soeurs atteintes d'hérédo-ataxie du type Friedreich. Ann. Ocul. (Paris), 182: 489–508.Google Scholar
Stadlin, W., Van Bogaert, L. 1949. Altérations choriorétiniennes chez deux soeurs atteintes d'hérédoataxie du type Friedreich. Acta Neurol. Belgica, 49: 705–730.Google ScholarPubMed
Stanescu, B., Climescu, E., Beer, I., Tautu, C., Macovei-Patrichi, M. 1970. Rétinopathie ponctuée albescens et hérédo-ataxie. Ann. Ocul. (Paris), 203: 661–669.Google Scholar
Stanescu, B., Wawernia, E. 1973. L'électrorétinocncéphalographie dans les dégénérescences spinocérébelleuses. Arch. Ophtalmol. (Paris),: 33 43–48.Google Scholar
Stephens, J., Hoover, M.L., Denst, J. 1958. On familial ataxia, neural amyotrophy and their association with the progressive external ophthalmoplegia. Brain, 81: 556–566.CrossRefGoogle ScholarPubMed
Stewart, R.M. 1937. Amentia, familial cerebellar diplegia and retinitis pigmentosa. Proc. R. Soc. Med., 39: 849–850.Google Scholar
Strobos, R.R.J., De La Torre, E., Martin, J.F. 1957. Symmetrical calcification of the basal ganglia with familial ataxia and pigmentary macular degeneration. Brain, 80: 313–318.CrossRefGoogle ScholarPubMed
Sykehus, H. 1973. Epidemiologic investigation of heredo-ataxia in Western Norway. Personal communication.Google Scholar
Tooth, 1886. The peroneal type of progressive muscular atrophy. Thesis, Cambridge.Google Scholar
Van Bogaert, L. 1924. Maladie de Friedreich et scoliose essentielle tardive héréditaire. Arch. Med. Exp., 1: 75–95.Google Scholar
Van Bogaert, L. 1947. Maladies nerveuses systématisées et problèmes de l'hérédité. Rapport XXVI Congr. Franç. Méd., Paris: Ed. Masson.Google Scholar
Van Bogaert, L. 1957. D'une atrophie cérébelleuse familiale avec dystrophie maculaire (type Stargardt) et anomalies congénitales de la pigmentation cutanée du type de l'inconiincntia pigmenti. Bibl. Ophthalmol., 47: 540–550 Google Scholar
Vercelli, G. 1938. Retinite pigmentosa e mioelonoepilessia. Riv. Otoneurooftalmol., 15: 315–330.Google Scholar
Verougstraete, Cl., Toussaint, D. 1973. Dégénérescence tapéto-rétinienne avec ataxic cérébelleuse: étude clinique chez plusieurs membres d'une même famille. Bull. Soc. Belge Ophtalmol., 164: 283–295.Google Scholar
Vitello, A. 1939. Una particolare varietà di malattia famigliare: sordomutismo congenito, retinite pigmentosa ed atassia di Marie. Il Pisani, 59: 129–146.Google Scholar
Walsh, F.B. 1947–1957. Clinical Neuro-Ophthalmology. Baltimore: Ed. Williams and Wilkins, 1st ed., 1947, 2nd Ed., 1957.Google Scholar
Weiner, L.P., Konigsmark, B.W., Stoll, J., Magladery, J.W. 1967. Hereditary olivo-pontocerebellar atrophy with retinal degeneration. Arch. Neurol., 16: 364–376.CrossRefGoogle Scholar
Werthemann, A. 1927. Ueber kombinierte familiäre Nerven- und Muskelkrankheiten Ztschr. Gesamte Ncurol. Psychiatr., 111: 683–712.CrossRefGoogle Scholar
Winkelman, N.N. 1932. Progressive pallidal degeneration. A new clinico-pathologic syndrome. Arch. Neurol. Psychiatr., 27: 1–21.CrossRefGoogle Scholar
Winnik, H.Z., Mangel, H., Salomon, C. 1953. Retinitis pigmentosa combined with other heredodegenerative syndromes and a paranoic conditions. Confin. Neurol., 13: 137–142.CrossRefGoogle Scholar
Woodworth, J.A. 1962. Personal communication, cited by Franceschetti et al. 1963.Google Scholar
Woodworth, J.A., Beckett, R.S., Netsky, M.G. 1959. A composite of hereditary ataxias. A familial disorder with features of olivo-ponto-cerebellar atrophy, Leber's optic atrophy and Friedreich's ataxia. Arch. Intern. Med., 104: 594–606.CrossRefGoogle Scholar
Zonca, G. 1937. Eredo-atassia cerebello-spinale e alterazioni retiniche. Atti Soc. Oftalmol. Ital., 34: 721–728.Google Scholar