Literature DB >> 3351891

Association of an ataxia indistinguishable from Friedreich's ataxia and congenital glaucoma in a family: a new syndrome.

O Combarros1, J Calleja, C Leno, J Berciano.   

Abstract

An inbred family is described in which three sibs have congenital glaucoma and two of them also have an ataxia indistinguishable from Friedreich's ataxia. The association between these two disorders has not previously been reported. The genetic mechanisms of this association are discussed.

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Year:  1988        PMID: 3351891      PMCID: PMC1015422          DOI: 10.1136/jmg.25.1.44

Source DB:  PubMed          Journal:  J Med Genet        ISSN: 0022-2593            Impact factor:   6.318


  5 in total

1.  Nerve conduction studies and electromyography in Friedreich's ataxia.

Authors:  J M Peyronnard; L Lapointe; J P Bouchard; A Lamontagne; B Lemieux; A Barbeau
Journal:  Can J Neurol Sci       Date:  1976-11       Impact factor: 2.104

2.  Friedreich's ataxia. Early detection and progression of peripheral nerve abnormalities.

Authors:  R A Ouvrier; J G McLeod; T E Conchin
Journal:  J Neurol Sci       Date:  1982-08       Impact factor: 3.181

Review 3.  Genetic predisposition to glaucoma.

Authors:  J François
Journal:  Dev Ophthalmol       Date:  1981

4.  Friedreich's ataxia: a clinical and genetic study of 90 families with an analysis of early diagnostic criteria and intrafamilial clustering of clinical features.

Authors:  A E Harding
Journal:  Brain       Date:  1981-09       Impact factor: 13.501

Review 5.  Primary infantile glaucoma (congenital glaucoma).

Authors:  V P deLuise; D R Anderson
Journal:  Surv Ophthalmol       Date:  1983 Jul-Aug       Impact factor: 6.048

  5 in total

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