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AN ATYPICAL HEREDITARY SPINOCEREBELLAR SYNDROME

1965; Wiley; Volume: 41; Issue: 4 Linguagem: Inglês

10.1111/j.1600-0404.1965.tb04309.x

1600-0404

A Giannelli, Angelo Serra, Marco Bacciagaluppi,

Genetic Neurodegenerative Diseases

Acta Neurologica ScandinavicaVolume 41, Issue 4 p. 387-412 AN ATYPICAL HEREDITARY SPINOCEREBELLAR SYNDROME A Clinical and Genetic Study A. GIANNELLI, A. GIANNELLI Psychiatric Clinic of the University of Milan, Milan, Italy.Search for more papers by this authorA. SERRA, A. SERRA Department of Human Genetics of the Catholic University Medical School, Rome, Italy. At present, acting Director of the Institute of Human Genetics of the Faculty of Medicine of the Catholic University, Rome, Italy.Search for more papers by this authorM. BACCIAGALUPPI, M. BACCIAGALUPPI Psychiatric Clinic of the University of Milan. Milan, Italy.Search for more papers by this author A. GIANNELLI, A. GIANNELLI Psychiatric Clinic of the University of Milan, Milan, Italy.Search for more papers by this authorA. SERRA, A. SERRA Department of Human Genetics of the Catholic University Medical School, Rome, Italy. At present, acting Director of the Institute of Human Genetics of the Faculty of Medicine of the Catholic University, Rome, Italy.Search for more papers by this authorM. BACCIAGALUPPI, M. BACCIAGALUPPI Psychiatric Clinic of the University of Milan. Milan, Italy.Search for more papers by this author First published: September 1965 https://doi.org/10.1111/j.1600-0404.1965.tb04309.xCitations: 4 AboutPDF ToolsRequest permissionExport citationAdd to favoritesTrack citation ShareShare Give accessShare full text accessShare full-text accessPlease review our Terms and Conditions of Use and check box below to share full-text version of article.I have read and accept the Wiley Online Library Terms and Conditions of UseShareable LinkUse the link below to share a full-text version of this article with your friends and colleagues. Learn more.Copy URL References Amyot. R. (1960): Les syndromes de Marinesco-Sjögren. Rev. Neurol. 103, 97. André-Van Leeuwen, M., J. Babel, L. Van Bogaert, A. Franceschetti & D. Klein (1948): Hérédo-ataxies par dégénérescence spino-ponto-cérébelleuse. Leurs manifestations rétiniennes, optiques et cocléaires. Rev. Ot. Neur. Opht. 20, 43. André-Van Leeuwen, M. & L. Van Bogaert (1942): Sur l'atrophie optique hérédo-familiale compliquée (Behr), forme de passage de l'atrophie de Leber aux hérédo-ataxies. Monatschr. Neurol. Psychiat. 105, 314. Anglaude & Calmettes (1907): Nouv. Icon. de la Salp. (quoted by Benvenuti, 1928). Behr, C. (1909): Die komplizierte hereditär-familiäre Opticus Atrophie. Ein bisher nicht beschriebener Symptomenkomplex. Klin. Mbl. Augenheilk. 8, 138. Bell, J. & E. A. Carmichael (1939): On hereditary ataxia and spastic paraplegia. In R. A. Fisher: The treasury of human inheritance, 4, Part 3, Cambridge Univ. Press, London. Benvenuti, M. (1928): Cervelletto e funzioni psichiche. Studio sintetico-critico. Riv. Sper. Freniatria 52, 181. Biemond. A. (1954): La forme radiculo-cordonnale postérieure des dégénérescences spino-cérébelleuses. Rev. neurol. 91, 3. Bodechtel. G.: (1961): Diagnostica differenziale delle sindromi neurologiche. Trad. Callieri e Semerari, Abruzzini Editore, Roma. Borgna. E. (1959): Contributo allo studio clinico e patogenetico della sclerosi multipla familiare. Riv. Pat. Nerv. Mentale 80, 765. Bozzi, R. (1935): Osservazioni sulla paraplegia spasmodica familiare di Strüimpell-Lorrain. Comunicazione alla Società Medico-Chirurgica, Padova. Brain, R. (1962): Diseases of the nervous system. 6th ed. Oxford Univ. Press, Oxford. Brown, S. (1892): On hereditary ataxia with a series of 21 cases. Brain 15, 250. Calvi, L. A. (1963): La sindrome di Marinesco-Sjögren. Rivista sintetica. Sist. Nerveso 15, 211. Campailla, G. (1942): Sulla sclerosi a placche familiare. Riv. Pat. Nerv. Mentale 59/60, 186. Cardona. F. (1939): Sulla istopatologia della malattia di Schilder familiare. Riv. Pat. Nerv. Mentale 54, 1. Colombati, S. (1952): Eredoatassie. Enc. Med. Ital. 4, 219. Curtius, F. & H. Speer (1938): Multiple Sklerose und Erbanlage. Ztschr. ges. Neurol. Psychiat. 160, 226. David, M. M. (1961): Séance de la Société Française de Neurologie, 2 Fevrier 1961, Paris. Rev. neurol. 104, 152. Déjérine, J. & A. Thomas (1900): L'atrophie ponto-cérebelleuse. Nouv. Icon. de la Salp. 4, 303. DeLiso, A. (1962): L'eredoatassia spino-cerebellare (Rivista sintetica di contributiclinici). Neuropsichiatria 18, 693. Denny-Brown, D. (1951): Hereditary sensory radicular neuropathy. J. Neurol. Neurosurg. Psych. 14, 237. De Renzi, E. & B. Gatti (1960): Una forma eredo-degenerativa con compromissione quasi esclusiva delle sensibilità: malattia di Biemond Riv. Pat. Nerv. Mentale 81, 504. Dureux, J. B., J. Cordier, P. Ziza & P. Tridon (1958): Hérédo-ataxie, cataracte et oligophrénie (S. de Marinesco-Sjögren). Rev. neurol. 98, 777. Ferguson, F. & M. Critchley (192829): Leber's optic atrophy and its relationship with the heredo-familial ataxias. J. Neurol. Psychopath. 9, 120. Ferrari, E. (1963): Elementi di semeiotica e topodiagnostica neurologica. Minerva Medica Edit. Ferraro, A. (1927): Familial form of encephalitis periaxialis diffusa. J. Nerv. Ment. Dis. 66, 329, 479 and 616. Francescheeti, A. & D. Klein (1947): Weiterer Beitrag zur der genetischen Beziehungen zwischen der Friedreich'schen Ataxie und den verschiedenen Formen der tapeto-retinalen Degenerationen. Arch. J. Klaus Stiftung 22, 93. François, J. (1962): Manifestations oculaires des affections générales. In L. Gedda: De Genetica Medica 6 (1), 345. Friedreich, N. (1863): Ueber degenerative Atrophie der spinalen Hinterstränge. Virchows Arch. Path. Anat. 26, 391. Friedreich, N. (1876): Ueber Ataxie mit besonderer Berücksichtigung der hereditären Formen. Virchows Arch. Path. Anat. 68, 145. Garcin, R., P. Raverdy, S. Delthil, H. X. Man & H. Chimenes (1961): Sur une affection hérédo-familiale associant cataracte, atrophie optique, signes extrapyramidals et certains stigmates de la maladie de Friedreich. Rev. neurol. 104, 373. Guillain, G. (1942): L'EEG dans la maladie de Friedreich. Comptes rend. Soc. Biol. 136, 494. Guiraud, P. & J. Ajuriaguerra (1934): Aréfléxie, pieds creux, amyotrophie accentuée, signe d'Argyll et troubles mentaux. Ann. Med. Psych. 1, 229. Hallervorden, J. (1936): Die hereditäre Ataxie. In Bumke & Förster: Handbuch der Neurologie. Springer, Berlin. Holmes, G. (1907): A form of familial degeneration of the cerebellum. Brain 30, 466. Hunt, J. (1914): Dyssynergia cerebellaris progressiva—a chronic progressive form of cerebellar tremor. Brain 37, 247. Imamura, S. & K. Ichikawa (1919): Atrophie optique familiale avec tremblement et déchéance intellectuelle. Rev. neurol. 26, 277. Landau, W. M. & J. Y. Gitt (1951): Hereditary spastic paraplegia and hereditary ataxia. A family demonstrating a variety of phenotypic manifestations. Arch. Neurol. Psychiat. 66, 346. Leber, T. (1871): Ueber hereditäre und kongenital angelegte Schnervenleiden. Arch. f. Ophth. 17, 249. Lejonne, P. & J. Lhermitte (1909): Atrophie olivorubrocérebelleuse. Rev. neurol. 17, 109. Le Mailloux, E. (1962): Contributions à l'étude neurologique du syndrome de Marinesco-Sjögren. Thése Méd., Toulouse. Lorrain, M. (1898): Contribution à l'etude de la paraplégie spasmodue familiale. Thèse, Paris. Marie, P. (1893): Sur l'hérédo-ataxie cérébelleuse. Semaine médicale 13, 444. Marie, P., C. Foix & T. Alajouanine (1922): De l'atrophie cérébelleuse tardive à prédominance corticale. Rev. neurol. 29, 1082. Marinesco, T., S. Draganesco & O. Vasiliu (1931): Nouvelle maladie familiale caractérisée par une cataracte congénitale et un arrêt du développement somatoneuropsychique. Encéphale 26, 97. McAlpine, D. (1957): Familial incidence and role of hereditary factors in multiple sclerosis. Paper presented at 1st Congr. Int. Soc. Neurol., Bruxelles. Mollaret, P. (1936): La maladie de Friedreich. Etudes neurologiques. Masson, Paris. Mollaret, P. (1939): L'hérédodégénération spinocérébelleuse. Enc. Méd. Chir., Neurologic 2, 17082. Mollaret, P. (1962): Review of the thesis by E. Le Mailloux. Rev. neurol. 106, 528. Morton, N. E. (1959): Genetic tests under incomplete ascertainment. Am. J. Hum Genet, 11, 1. Morton, N. E., C. S. Chung & H. A. Peters (1963): Genetics of muscular dystrophy. In G. H. Bourne & M. N. Golarz: Muscular dystrophy in man and animals. Karger. Basel. Nayrac, P. & P. Graux (1957): Maladie de Friedreich avec atrophie optique et imbécillité touchant de façon éléctive les garçons d'une fratrie. Rev. neurol. 97. 295. Nonne (1891): Ueber eine eigenthümliche familiäre Erkrankungsform des Central nervensystems. Arch. f. Psychiatrie 22, 283 (quoted by Marie, 1893). Ottonello, P. (1933): Varietà infanto-familiare della malattia di Schilder. Riv. Pat. Nerv. Mentale 42, 416. Peron, N. & R. Winteler (1961): Atrophies cérébelleuses. Enc. Méd. Chir., Neurologie 2, 17066. Pontecorvo, G. (1959): Trends in genetic analysis. Blackwell, Oxford. Raymond, F. (1910): Pathologie nerveuse. Delarme, Paris. Rigotti, S. & M. Correra (1948): Dismorfismi congeniti e sclerosi multipla familiare. Riv. Neurol. Veg. 6, 369. Roth. M. (1948): On a possible relationship between hereditary ataxia and peroneal muscular atrophy. Brain 71, 416. Roussy, G. & G. Lévy (1926): Sept cas d'une maladie familiale particulière. Rev. neurol. 1, 427. Sanguineti, I. (1953): Contributo allo studio e alla definizione nosografica dei quadri intermedi fra la malattia di Friedreich e la amiotrofia di Charcot-Marie-Tooth. Riv. Sper. Freniatria 77, 3. Sarteschi, P. & I. Fabiani (1957): Le deformazioni neurogene del piede. Neopsichiatria 23, 185. Sarteschi, P. & W. Gragnani (1951): Sull'ereditarietà della atassia spinocerebellare. Fol. Hered. Path. 1, 151. Schut. J. W. (1951): Hereditary ataxia. A survey of certain clinical, pathologie and genetic features with linkage data on five additional hereditary factors. Am. J. Hum. Genet. 3, 93. Sjögren, T. (1935): Klinische und vererbungsmedizinische Untersuchungen über Obligophrenie mit kongenitaler Katarakt. Ztschr. ges. Neurol. Psychiat. 152, 263. Sjögren, T. (1943): Klinische und erbbiologische Untersuchungen über die Heredoataxien. Acta Psych. Neurol., Suppl. 27. Sjögren, T. (1950): Hereditary congenital spino-cerebellar ataxia accompanied by congenital cataract and oligophrenia. Confinia Neurologica 10, 293. Smith, C. A. B. (1956): A test for segregation ratios in family data. Ann. Hum. Genet. 20, 257. Smith, C. A. B. (1959): A note on the effects of method of ascertainment on segregation ratios. Ann. Hum. Genet. 23, 311. Staropoli, D. & O. Petrosillo (1963): La malattia di Marinesco-Sjögren. Rass. Studi Psich. 52, 659. Strümpell, A. (1894): Ueber einen Fall von primären systematischer Degeneration der Pyramidenbahnen mit den Symptomen einer allgemeinen spastischen Lähmung. Ztschr. ges. Neurol. Psychiat. 5, 225. Taraschi, G. (1956): Atrofie muscolari nella malattia di Friedreich. Ann. Neur. Psic. Psicoanal. 3, 589. Thiebaut, F. & J. E. Gruner (1961): Hérédodégénérescence spinocérébelleuse. Enc. Méd. Chir., Neurologic 2, 17082. Thiebaut, F., J. Lemoyne & L. Guillaumat (1961): Maladie de Refsum. Rev. neurol. 104, 152. Tyrer, J. H. & J. M. Sutherland (1961): The primary spinocerebellar atrophies and their associated defects, with a study of the foot deformity. Brain 84, 289. Valobra, N. (1955): Malattie nervose. Patologia e Clinica. UTET, Torino. Van Bogaert, L. (1949): Les hérédo-ataxies. In Ravina: Traité de Médicine. Masson, Paris. Virgili, R. & G. Rosapepe (1949): Contributo clinico-statistico allo studio della eredoatassia. Rass. Neuropsic. 3, 51. Von Verschuer, O. (1959): Genetik des Menschen. Urban und Schwarzenberg. München. Citing Literature Volume41, Issue4September 1965Pages 387-412 ReferencesRelatedInformation