Literature DB >> 14718708

Identification of a SACS gene missense mutation in ARSACS.

T Ogawa1, Y Takiyama, K Sakoe, K Mori, M Namekawa, H Shimazaki, I Nakano, M Nishizawa.   

Abstract

The authors describe two patients in a Japanese family with autosomal recessive spastic ataxia of Charlevoix-Saguenay. They presented early onset spastic ataxia, sensorimotor neuropathy, nystagmus, slurred speech, and hypermyelinated retinal nerve fibers. The authors identified a homozygous missense mutation (T7492C) in the SACS gene, which resulted in the substitution of arginine for tryptophan at amino acid residue 2498 (W2498R).

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Year:  2004        PMID： 14718708     DOI： 10.1212/01.wnl.0000099371.14478.73

Source DB:  PubMed          Journal:  Neurology        ISSN： 0028-3878            Impact factor:   9.910


  23 in total

1.  Sacsin-related ataxia caused by the novel nonsense mutation Arg4325X.

Authors:  Yoichi Yamamoto; Masayuki Nakamori; Kuni Konaka; Seiichi Nagano; Haruo Shimazaki; Yoshihisa Takiyama; Saburo Sakoda
Journal:  J Neurol       Date:  2006-08-29       Impact factor: 4.849

Review 2.  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

3.  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

Review 4.  Ophthalmic manifestations of inherited neurodegenerative disorders.

Authors:  Hannah M Kersten; Richard H Roxburgh; Helen V Danesh-Meyer
Journal:  Nat Rev Neurol       Date:  2014-05-20       Impact factor: 42.937

5.  Epidemiological, clinical, paraclinical and molecular study of a cohort of 102 patients affected with autosomal recessive progressive cerebellar ataxia from Alsace, Eastern France: implications for clinical management.

Authors:  M Anheim; M Fleury; B Monga; V Laugel; D Chaigne; G Rodier; E Ginglinger; C Boulay; S Courtois; N Drouot; M Fritsch; J P Delaunoy; D Stoppa-Lyonnet; C Tranchant; M Koenig
Journal:  Neurogenetics       Date:  2009-05-14       Impact factor: 2.660

6.  Hereditary spastic paraplegias: identification of a novel SPG57 variant affecting TFG oligomerization and description of HSP subtypes in Sudan.

Authors:  Liena E O Elsayed; Inaam N Mohammed; Ahlam A A Hamed; Maha A Elseed; Adam Johnson; Mathilde Mairey; Hassab Elrasoul S A Mohamed; Mohamed N Idris; Mustafa A M Salih; Sarah M El-Sadig; Mahmoud E Koko; Ashraf Y O Mohamed; Laure Raymond; Marie Coutelier; Frédéric Darios; Rayan A Siddig; Ahmed K M A Ahmed; Arwa M A Babai; Hiba M O Malik; Zulfa M B M Omer; Eman O E Mohamed; Hanan B Eltahir; Nasr Aldin A Magboul; Elfatih E Bushara; Abdelrahman Elnour; Salah M Abdel Rahim; Abdelmoneim Alattaya; Mustafa I Elbashir; Muntaser E Ibrahim; Alexandra Durr; Anjon Audhya; Alexis Brice; Ammar E Ahmed; Giovanni Stevanin
Journal:  Eur J Hum Genet       Date:  2016-09-07       Impact factor: 4.246

7.  Sacsinopathies: sacsin-related ataxia.

Authors:  Yoshihisa Takiyama
Journal:  Cerebellum       Date:  2007-02-28       Impact factor: 3.847

8.  Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS): novel compound heterozygous mutations in the SACS gene.

Authors:  S Kamada; S Okawa; T Imota; M Sugawara; I Toyoshima
Journal:  J Neurol       Date:  2008-05-19       Impact factor: 4.849

9.  ARSACS in the Dutch population: a frequent cause of early-onset cerebellar ataxia.

Authors:  Sascha Vermeer; Rowdy P P Meijer; Benjamin J Pijl; Janneke Timmermans; Johannes R M Cruysberg; Maaike M Bos; Helenius J Schelhaas; Bart P C van de Warrenburg; Nine V A M Knoers; Hans Scheffer; Berry Kremer
Journal:  Neurogenetics       Date:  2008-05-09       Impact factor: 2.660

10.  Private SACS mutations in autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) families from Turkey.

Authors:  Andrea M Richter; Riza Koksal Ozgul; Virginie C Poisson; Haluk Topaloglu
Journal:  Neurogenetics       Date:  2004-05-20       Impact factor: 2.660
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