Two sisters with mental retardation, cataract, ataxia, progressive hearing loss, and polyneuropathy.

Journal of Medical Genetics - Tập 28 Số 12 - Trang 884-885 - 1991
J.H. Begeer1, F A Scholte1, Anthonie J. van Essen1
1Department of Child Neurology, University Hospital, Groningen, The Netherlands.

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Tài liệu tham khảo

Harding AE. The hereditary ataxias and related disorders. Edinburgh: Churchill Livingstone, 1984.

Baraitser M. The genetics of neurological disorders. Oxford: Oxford University Press, 1982.

Berman W, Haslan RHA, Koningsmark BW, Capute AJ, Migeon CJ. A new familial syndrome with ataxia, hearing loss, and mental retardation. Arch Neurol 1973;29:258-61.

Koletzko S, Koletzko B, Lamprecht A, Lenard HG. Ataxiadeafness-retardation syndrome in three sisters. Neuropediatrics 1987;18:18-21.

Marinesco G, Draganesco S, Vasiliu D. Nouvelle maladie familiale caracterise par une cataracte congenitale et un arret du developpement somato-neuro-psychique. L'Enciphale 1931;26:97-1 10.

Sjogren T. Hereditary congenital spinocerebellar ataxia accompanied by congenital cataract and oligophrenia. Confin Neurol 1950;10:293-308.

Jeune M, Tommassi M, Freycon F, Nivelon JL. Syndrome familial associant ataxie, surdite et oligophrenie. Sclerose myocardique d'evolution fatale chez l'un des enfants. Soc Fr Pediatr 1963;18:984-7.

Lichtenstein H, Knorr A. Ober einige Fiale von vortschreitender Schwerhorigkeit bei hereditarer Ataxie. Dtsche Z Nervenheilk 1930;114:1-28.

Flynn P, Aird RB. A neuroectodermal syndrome of dominant inheritance. J Neurol Sci 1965;2:161-82.

Stromgren E, Dalby MA, Ranheim B. Cataract, deafness, cerebellar ataxia, psychosis and dementia - a new syndrome. Acta Neurol Scand Suppl 1970;43:261-2.