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Hereditary cerebellar atrophy (Holmes type) with optic atrophy

A clinico-pathological study of four generations in a family

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Summary

A family with a dominantly inherited progressive cerebellar ataxia is described; four members of successive generations were affected. Neuropathological examination of one family member classified this disorder as hereditary cerebellar atrophy of Holmes type. An associated optic atrophy has not been previously reported in this disease.

Zusammenfassung

Es wird eine Familie mit dominant vererbter Kleinhirnataxie beschrieben; vier Mitglieder aufeinanderfolgender Generationen waren erkrankt. Durch neuropathologische Untersuchung konnte in einem Fall die Diagnose der erblichen Kleinhirnatrophie vom Holmes-Typ gestellt werden. Eine gleichzeitig bestehende Optikusatrophie wurde bisher bei diesem Krankheitsbild noch nicht beschrieben.

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References

  1. Akelaitis, A. J.: Hereditary form of parenchymatous atrophy of the cerebellar cortex associated with mental deterioration. Am. J. Psychiat. 94, 1115–1137 (1938)

    Google Scholar 

  2. Bergstedt, M.: Hereditary spastic ataxia with central retinal degeneration and vestibular impairment. In: Handbook of Clinical Neurology, P. J. Vinken, G. W. Bruyn, eds., Vol. 21, 383–388. Amsterdam-Oxford-New York: North Holland & American Elsevier 1975

    Google Scholar 

  3. Bielschowsky, M., Bouman, L., Sillevis Smitt, W. G.: Über eine ungewöhnliche Form von cerebellarer Heredo-Ataxie. Jb. Psychiat. Neurol. 51, 1–15 (1934)

    Google Scholar 

  4. Bogaert, L. van: Sur une atrophie cérébelleuse tardive du type Marie-Foix-Alajouanine héréditaire et familiale avec une atrophie pallidale partielle cliniquement muette. J. belge Neurol. Psychiat. 47, 268–286 (1947)

    Google Scholar 

  5. Bogaert, L. van, Martin, L.: Optic and cochleovestibular degenerations in the hereditary ataxias. I. Clinico-pathological and genetic aspects. Brain 97, 15–40 (1974)

    Google Scholar 

  6. Carpenter, S., Schumacher, G. A.: Familial infantile cerebellar atrophy associated with retinal degeneration. Arch. Neurol. 14, 82–94 (1966)

    Google Scholar 

  7. Carter, H. R., Sukavajana, C.: Familial cerebello-olivary degeneration with late development of rigidity and dementia. Neurology (Minn.) 6, 876–884 (1956)

    Google Scholar 

  8. Eadie, M. J.: Cerebello-olivary atrophy (Holmes type). In: Handbook of Clinical Neurology, P. J. Vinken, G. W. Bruyn, eds., Vol.21, 403–414. Amsterdam-Oxford-New York: North Holland & American Elsevier 1975

    Google Scholar 

  9. Ferguson, F. R., Critchley, M.: A clinical study of a heredo-familial disease resembling disseminated sclerosis. Brain 52, 203–225 (1929)

    Google Scholar 

  10. Greenfield, J. G.: The spino-cerebellar degenerations. Oxford: Blackwell 1954

    Google Scholar 

  11. Hall, B., Noad, K. B., Latham, O.: Familial cortical cerebellar atrophy. Brain 64, 178–194 (1941)

    Google Scholar 

  12. Holmes, G.: A form of familial degeneration of the cerebellum. Brain 30, 466–489 (1907a)

    Google Scholar 

  13. Holmes, G.: An attempt to classify cerebellar disease, with a note on Marie's hereditary cerebellar ataxia. Brain 30, 545–567 (1907b)

    Google Scholar 

  14. Kato, Y., Takayama, K., Tsujiyama, Y., Kaga, T., Satowa, H.: Two autopsy cases of the spino-cerebellar degeneration with the combination of the cerebral atrophy. Brain Nerve (Tokyo) 22, 1201–1208 (1970)

    Google Scholar 

  15. Lenz, H., Pürgyi, P.: Zerebellare Ataxie in 3 Generationen mit anscheinend dominantem Erbgang. Wien. klin. Wschr. 88, 762–764 (1976)

    Google Scholar 

  16. Liversedge, L. A., Emery, C.: Electroencephalographic changes in cerebellar degenerative lesions. J. Neurol. Neurosurg. Psychiat. 24, 326–330 (1961)

    Google Scholar 

  17. Marie, P.: Sur l'hérédo-ataxie cérébelleuse. Sem. méd. Paris 13, 444–447 (1893)

    Google Scholar 

  18. Mathieu, P., Bertrand, I.: Etudes anatomocliniques sur les atrophies cérébelleuses. Rev. Neurol. (Paris) 51, 721–765 (1929)

    Google Scholar 

  19. Miyoshi, I., Sato, T., Takagi, S.: A case report of hereditary cerebellar ataxia. Folia Psychiat. Neurol. Japon. 15, 281–287 (1961)

    Google Scholar 

  20. Richter, R. B.: A clinico-pathologic study of parenchymatous cortical cerebellar atrophy. Report of a familial case. J. Nerv. Ment. Dis. 91, 37–46 (1940)

    Google Scholar 

  21. Richter, R. B.: Late cortical cerebellar atrophy. A form of hereditary cerebellar ataxia. Am. J. Hum. Genet. 2, 1–29 (1950)

    Google Scholar 

  22. Sack, G., Gruss, B., Lössner, J., Bachmann, H.: EEG-Untersuchungen bei spinozerebellaren Ataxien. Psychiat. Neurol. med. Psychol. (Leipzig) 29, 521–528 (1977)

    Google Scholar 

  23. Seitelberger, F.: Eigenartige familiär-hereditäre Krankheit des Zentralnervensystems in einer niederösterreichischen Sippe. Wien. klin. Wschr. 74, 687–691 (1962)

    Google Scholar 

  24. Sjögren, T.: Klinische und erbbiologische Untersuchungen über die Heredoataxien. Copenhagen: Munksgaard 1943

    Google Scholar 

  25. Thorpe, F. T.: Familial degeneration of the cerebellum in association with epilepsy. A report of two cases, one with pathological findings. Brain 58, 97–114 (1935)

    Google Scholar 

  26. Ule, G.: Die systematischen Atrophien des Kleinhirns. In: Handb. spez. path. Anat. Histol., O. Lubarsch, F. Henke, R. Rössle, Hrsg., Bd. XIII/1 A, 934–988. Berlin-Göttingen-Heidelberg: Springer 1957

    Google Scholar 

  27. Weber, F. P., Greenfield, J. G.: Cerebello-olivary degeneration: an example of heredofamilial incidence. Brain 65, 220–231 (1942)

    Google Scholar 

  28. Weiner, L. P., Konigsmark, B. W.: Hereditary diseases of the cerebellar parenchyma. Birth defects: Original Article Series 7, 192–196 (1971)

    Google Scholar 

  29. Zülch, K. J.: Über die anatomische Stellung der Kleinhirnrindenatrophie und ihre Beziehung zur Nonne-Marieschen Krankheit. Dtsch. Z. Nervenheilk. 159, 501–513 (1948)

    Google Scholar 

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Authors and Affiliations

  1. Neurological Institute, University of Vienna, Austria

    Herbert Budka, Demeter Seemann & Walter Danielczyk

  2. Neurological Department, Lainz Gerontological Hospital, Vienna, Austria

    Herbert Budka, Demeter Seemann & Walter Danielczyk

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  1. Herbert Budka
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  2. Demeter Seemann
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  3. Walter Danielczyk
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Budka, H., Seemann, D. & Danielczyk, W. Hereditary cerebellar atrophy (Holmes type) with optic atrophy. Arch. Psychiat. Nervenkr. 226, 311–318 (1979). https://doi.org/10.1007/BF00342243

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  • DOI: https://doi.org/10.1007/BF00342243

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