Literature DB >> 6231891

Friedreich's ataxia. A clinical review with neurophysiological and echocardiographic findings.

R S Ackroyd, J A Finnegan, S H Green.   

Abstract

In a review of twelve cases of Friedreich's ataxia, the important criteria for early diagnosis were identified. Clinical signs included absent tendon reflexes, ataxic gait, and a positive Romberg test. Nerve conduction velocities showed absent or severely slowed sensory conduction, with normal motor conduction. In addition, echocardiographic changes of symmetrical hypertrophic cardiomyopathy were found.

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Year:  1984        PMID： 6231891      PMCID： PMC1628525          DOI： 10.1136/adc.59.3.217

Source DB:  PubMed          Journal:  Arch Dis Child        ISSN： 0003-9888            Impact factor:   3.791


  17 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.  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

3.  Axonal filamentous spheroids associated with cardiomyopathy with "targetoid fibers". I. Clinical, histologic, and electron microscopic studies.

Authors:  H M Liu; M Gumbinas
Journal:  Neurology       Date:  1974-06       Impact factor: 9.910

4.  Hereditary polyneuropathy of Roussy-Lévy type with associated cardiomyopathy.

Authors:  R G Lascelles; I A Baker; P K Thomas
Journal:  Guys Hosp Rep       Date:  1970

5.  Electrophysiologic and histological studies in patients with Friedreich's ataxia.

Authors:  J G McLeod
Journal:  Electroencephalogr Clin Neurophysiol       Date:  1969-09

6.  Nerve conduction studies in children with Friedreich's ataxia and ataxia-telangiectasia.

Authors:  H G Dunn
Journal:  Dev Med Child Neurol       Date:  1973-06       Impact factor: 5.449

7.  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

8.  Electromyography and nerve conduction studies in Friedreich's ataxia and autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS).

Authors:  J P Bouchard; A Barbeau; R Bouchard; R W Bouchard
Journal:  Can J Neurol Sci       Date:  1979-05       Impact factor: 2.104

9.  Echocardiographic findings in Friedreich's ataxia.

Authors:  H F Gattiker; A Davignon; A Bozio; J Batlle-Diaz; G Geoffroy; B Lemieux; A Barbeau
Journal:  Can J Neurol Sci       Date:  1976-11       Impact factor: 2.104

10.  Autosomal recessive spastic ataxia of Charlevoix-Saguenay.

Authors:  J P Bouchard; A Barbeau; R Bouchard; R W Bouchard
Journal:  Can J Neurol Sci       Date:  1978-02       Impact factor: 2.104
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  10 in total

1.  Linkage studies of Friedreich ataxia by means of blood-group and protein markers.

Authors:  B J Keats; L J Ward; M Lu; S Krieger; M A Wilensky; C J Forster-Gibson; M Roy; M Monté; A Barbeau; N E Simpson
Journal:  Am J Hum Genet       Date:  1987-10       Impact factor: 11.025

2.  Mitochondrial malic enzyme in Friedreich's ataxia: failure to demonstrate reduced activity in cultured fibroblasts.

Authors:  R G Gray; D Kumar
Journal:  J Neurol Neurosurg Psychiatry       Date:  1985-01       Impact factor: 10.154

3.  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 4.  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

Review 5.  Echocardiography in neurological disorders.

Authors:  J P Lintermans
Journal:  Eur J Pediatr       Date:  1987-01       Impact factor: 3.183

6.  The clinical spectrum of Friedreich's ataxia in German families showing linkage to the FRDA locus on chromosome 9.

Authors:  W Müller-Felber; T Rossmanith; C Spes; S Chamberlain; D Pongratz; T Deufel
Journal:  Clin Investig       Date:  1993-02

7.  Marked variation in the cardiomyopathy associated with Friedreich's ataxia.

Authors:  D P Dutka; J E Donnelly; P Nihoyannopoulos; C M Oakley; D J Nunez
Journal:  Heart       Date:  1999-02       Impact factor: 5.994

8.  Molecular and clinical investigation of Iranian patients with Friedreich ataxia.

Authors:  Mohammad Hossein Salehi; Massoud Houshmand; Omid Aryani; Behnam Kamalidehghan; Elham Khalili
Journal:  Iran Biomed J       Date:  2014

Review 9.  Antioxidant Therapies and Oxidative Stress in Friedreich´s Ataxia: The Right Path or Just a Diversion?

Authors:  Laura R Rodríguez; Tamara Lapeña; Pablo Calap-Quintana; María Dolores Moltó; Pilar Gonzalez-Cabo; Juan Antonio Navarro Langa
Journal:  Antioxidants (Basel)       Date:  2020-07-24

10.  A non-synonymous single nucleotide polymorphism in SIRT6 predicts neurological severity in Friedreich ataxia.

Authors:  Layne N Rodden; Christian Rummey; Yi Na Dong; Sarah Lagedrost; Sean Regner; Alicia Brocht; Khalaf Bushara; Martin B Delatycki; Christopher M Gomez; Katherine Mathews; Sarah Murray; Susan Perlman; Bernard Ravina; S H Subramony; George Wilmot; Theresa Zesiewicz; Alessandra Bolotta; Alain Domissy; Christine Jespersen; Baohu Ji; Elisabetta Soragni; Joel M Gottesfeld; David R Lynch
Journal:  Front Mol Biosci       Date:  2022-09-05
  10 in total

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