Literature DB >> 487308

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

J P Bouchard, A Barbeau, R Bouchard, R W Bouchard.   

Abstract

Twenty four ataxic patients were investigated with electromyography and nerve conduction studies. They were divided in two groups according to the area they came from, the evolution of the disease, and the clinical signs. Group I patients from the Rimouski area displayed all the clinical and electrophysiological signs of Friedreich's ataxia. Group II comprised patients who presented with a new syndrome known as the autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS). Although the clinical evolution was better in the latter, there were more electromyographic signs of denervation and the motor conduction velocities were slower. Both groups showed identical and important abnormalities in sensory nerve conduction. The results of electrophysiological studies in spastic ataxia have not been reported to our knowledge. They underline the place of spastic ataxia as distinct from Friedreich's ataxia, spastic paraplegia, and the known familial neuropathies.

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Year:  1979        PMID: 487308     DOI: 10.1017/s0317167100119614

Source DB:  PubMed          Journal:  Can J Neurol Sci        ISSN: 0317-1671            Impact factor:   2.104


  11 in total

Review 1.  A novel homozygous SACS mutation identified by whole exome sequencing-genotype phenotype correlations of all published cases.

Authors:  Georgia Xiromerisiou; Katerina Dadouli; Chrysoula Marogianni; Antonios Provatas; Panagiotis Ntellas; Dimitrios Rikos; Pantelis Stathis; Despina Georgouli; Gedeon Loules; Maria Zamanakou; Georgios M Hadjigeorgiou
Journal:  J Mol Neurosci       Date:  2019-11-07       Impact factor: 3.444

2.  Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay (ARSACS)-First Report of Clinical and Imaging Features from India, and a Novel SACS Gene Duplication.

Authors:  Pankaj A Agarwal; Priti Ate-Upasani; Vedam L Ramprasad
Journal:  Mov Disord Clin Pract       Date:  2017-08-09

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

Authors:  R S Ackroyd; J A Finnegan; S H Green
Journal:  Arch Dis Child       Date:  1984-03       Impact factor: 3.791

4.  Location score and haplotype analyses of the locus for autosomal recessive spastic ataxia of Charlevoix-Saguenay, in chromosome region 13q11.

Authors:  A Richter; J D Rioux; J P Bouchard; J Mercier; J Mathieu; B Ge; J Poirier; D Julien; G Gyapay; J Weissenbach; T J Hudson; S B Melançon; K Morgan
Journal:  Am J Hum Genet       Date:  1999-03       Impact factor: 11.025

5.  Long latency muscle responses in cerebellar diseases.

Authors:  D Claus; H O Schöcklmann; H J Dietrich
Journal:  Eur Arch Psychiatry Neurol Sci       Date:  1986

6.  SACS Mutation-Positive Autosomal Recessive Spastic Ataxia of Charlevoix Saguenay (ARSACS) from Kerala.

Authors:  S Sheetal; S Amith Kumar; P Byju
Journal:  Ann Indian Acad Neurol       Date:  2020-04-07       Impact factor: 1.383

7.  Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay (ARSACS): Case Report of a Novel Nonsense Mutation in the SACS Gene.

Authors:  Ayush Agarwal; Divyani Garg; Akash Kharat; Abdul Qavi
Journal:  Ann Indian Acad Neurol       Date:  2020-05-09       Impact factor: 1.383

Review 8.  Documenting manifestations and impacts of autosomal recessive spastic ataxia of Charlevoix-Saguenay to develop patient-reported outcome.

Authors:  Marjolaine Tremblay; Laura Girard-Côté; Bernard Brais; Cynthia Gagnon
Journal:  Orphanet J Rare Dis       Date:  2022-10-01       Impact factor: 4.303

9.  A reduction in Drp1-mediated fission compromises mitochondrial health in autosomal recessive spastic ataxia of Charlevoix Saguenay.

Authors:  Teisha Y Bradshaw; Lisa E L Romano; Emma J Duncan; Suran Nethisinghe; Rosella Abeti; Gregory J Michael; Paola Giunti; Sascha Vermeer; J Paul Chapple
Journal:  Hum Mol Genet       Date:  2016-06-10       Impact factor: 6.150

10.  SACS Gene Deletional Mutation Presenting as an Isolated Nonprogressive Sensory Motor Axonal Neuropathy: A Case Report.

Authors:  Vikash Agarwal; Dinesh Nayak; Anil Venkatachalam; Haseeb Hasan
Journal:  Ann Indian Acad Neurol       Date:  2021-04-28       Impact factor: 1.383

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