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Literature DB >> 7277422

'Pseudo-dominant' inheritance in Friedreich's ataxia.

Abstract

A family is described in which Friedreich's ataxia occurred in two generations. It is proposed that this resulted from a homozygote-heterozygote mating. The heterozygote frequency for the Friedreich's ataxia gene is in the order of 1 in 110, so the likelihood of the disease developing in an individual child of a patient is 1 in 220. This risk is probably higher than that often assumed when counselling patients with this disorder.

Entities: Disease Species

Mesh：

Year: 1981 PMID： 7277422 PMCID： PMC1048733 DOI： 10.1136/jmg.18.4.285

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

4 in total

1. Clinical description and roentgenologic evaluation of patients with Friedreich's ataxia.

Authors: G Geoffroy; A Barbeau; G Breton; B Lemieux; M Aube; C Leger; J P Bouchard
Journal: Can J Neurol Sci Date: 1976-11 Impact factor: 2.104

2. Cardiac aspects of Friedreich's ataxia.

Authors: S H BOYER; A W CHISHOLM; V A McKUSICK
Journal: Circulation Date: 1962-03 Impact factor: 29.690

3. An electrophysiological and pathological study of peripheral nerves in Friedreich's ataxia.

Authors: J G McLeod
Journal: J Neurol Sci Date: 1971-03 Impact factor: 3.181

4. Genetic and family studies in Friedreich's ataxia.

Authors: E Andermann; G M Remillard; C Goyer; L Blitzer; F Andermann; A Barbeau
Journal: Can J Neurol Sci Date: 1976-11 Impact factor: 2.104

4 in total

14 in total

1. Early onset of Friedreich's ataxia in a compound heterozygote.

Authors: M C McGovern; M Stewart; P J Morrison; D Webb; S Hawkins
Journal: Arch Dis Child Date: 2000-07 Impact factor: 3.791

Review 2. Friedreich ataxia: an overview.

Authors: M B Delatycki; R Williamson; S M Forrest
Journal: J Med Genet Date: 2000-01 Impact factor: 6.318

3. Diagnosing Friedreich's ataxia.

Authors: N W Wood
Journal: Arch Dis Child Date: 1998-03 Impact factor: 3.791

4. Efficacy and Tolerability of Interferon Gamma in Treatment of Friedreich's Ataxia: Retrospective Study.

Authors: Mehmet Fatih Yetkİn; Murat GÜltekİn
Journal: Noro Psikiyatr Ars Date: 2020-09-21 Impact factor: 1.339

5. Determination of Genotypic and Phenotypic Characteristics of Friedreich's Ataxia and Autosomal Dominant Spinocerebellar Ataxia Types 1, 2, 3, and 6.

Authors: Pınar Bengi Boz; Filiz Koç; Sabriye Kocatürk Sel; Ali İrfan Güzel; Halil Kasap
Journal: Noro Psikiyatr Ars Date: 2016-06-01 Impact factor: 1.339

Review 6. Friedreich ataxia: molecular mechanisms, redox considerations, and therapeutic opportunities.

Authors: Renata Santos; Sophie Lefevre; Dominika Sliwa; Alexandra Seguin; Jean-Michel Camadro; Emmanuel Lesuisse
Journal: Antioxid Redox Signal Date: 2010-09-01 Impact factor: 8.401

7. Preclinical and manifest diabetes mellitus in young patients with Friedreich's ataxia: no evidence of immune process behind the islet cell destruction.

Authors: E J Schoenle; E J Boltshauser; S Baekkeskov; M Landin Olsson; T Torresani; A von Felten
Journal: Diabetologia Date: 1989-06 Impact factor: 10.122