Literature DB >> 31342269

ATXN10 Microsatellite Distribution in a Peruvian Amerindian Population.

Diego Véliz-Otani1, Miguel Inca-Martinez2,3, Giovana B Bampi4,5,6, Olimpio Ortega2, Laura B Jardim4,5,6,7, Maria Luiza Saraiva-Pereira4,5,6,8, Pilar Mazzetti2, Mario Cornejo-Olivas2,9.   

Abstract

Spinocerebellar ataxia type 10 (SCA10) is a repeat expansion disease occurring mostly in Latin America, suggesting that the mutation spread with the peopling of the Americas, or that Amerindian populations, have a higher ATXN10 mutability. High frequency of large normal alleles is associated with prevalence and relative frequency of other repeat expansion diseases. To test whether the allele distribution of the SCA10-causing ATXN10 microsatellite in an Amerindian Peruvian population differs from that of other populations. The ATXN10 allele distribution in a Quechua Peruvian population from Puno, Peru, is similar to that of Finland. Mean allele size and mode were also similar to those of Mexico, Japan, and white Europeans. ATXN10 allele distribution in a healthy Amerindian population from Peru does not differ from that of other populations.

Entities:  

Keywords:  ATXN10; Amerindian; Large normal allele; Quechua; Spinocerebellar ataxia type 10

Mesh:

Substances:

Year:  2019        PMID: 31342269     DOI: 10.1007/s12311-019-01057-x

Source DB:  PubMed          Journal:  Cerebellum        ISSN: 1473-4222            Impact factor:   3.847


  41 in total

1.  Spinocerebellar ataxia type 10 is rare in populations other than Mexicans.

Authors:  T Matsuura; L P W Ranum; V Volpini; M Pandolfo; H Sasaki; K Tashiro; K Watase; H Y Zoghbi; T Ashizawa
Journal:  Neurology       Date:  2002-03-26       Impact factor: 9.910

2.  Polymerase chain reaction amplification of expanded ATTCT repeat in spinocerebellar ataxia type 10.

Authors:  Tohru Matsuura; Tetsuo Ashizawa
Journal:  Ann Neurol       Date:  2002-02       Impact factor: 10.422

Review 3.  Microsatellite null alleles in parentage analysis.

Authors:  E E Dakin; J C Avise
Journal:  Heredity (Edinb)       Date:  2004-11       Impact factor: 3.821

4.  Measurement of mutational flow implies both a high new-mutation rate for Huntington disease and substantial underascertainment of late-onset cases.

Authors:  D Falush; E W Almqvist; R R Brinkmann; Y Iwasa; M R Hayden
Journal:  Am J Hum Genet       Date:  2001-02       Impact factor: 11.025

5.  Clinical and genetic analysis of four Mexican families with spinocerebellar ataxia type 10.

Authors:  A Rasmussen; T Matsuura; L Ruano; P Yescas; A Ochoa; T Ashizawa; E Alonso
Journal:  Ann Neurol       Date:  2001-08       Impact factor: 10.422

6.  Interruptions in the expanded ATTCT repeat of spinocerebellar ataxia type 10: repeat purity as a disease modifier?

Authors:  Tohru Matsuura; Ping Fang; Christopher E Pearson; Parul Jayakar; Tetsuo Ashizawa; Benjamin B Roa; David L Nelson
Journal:  Am J Hum Genet       Date:  2005-11-15       Impact factor: 11.025

7.  Large expansion of the ATTCT pentanucleotide repeat in spinocerebellar ataxia type 10.

Authors:  T Matsuura; T Yamagata; D L Burgess; A Rasmussen; R P Grewal; K Watase; M Khajavi; A E McCall; C F Davis; L Zu; M Achari; S M Pulst; E Alonso; J L Noebels; D L Nelson; H Y Zoghbi; T Ashizawa
Journal:  Nat Genet       Date:  2000-10       Impact factor: 38.330

8.  The occurrence of dominant spinocerebellar ataxias among 251 Finnish ataxia patients and the role of predisposing large normal alleles in a genetically isolated population.

Authors:  V Juvonen; M Hietala; V Kairisto; M-L Savontaus
Journal:  Acta Neurol Scand       Date:  2005-03       Impact factor: 3.209

9.  Clinical features and ATTCT repeat expansion in spinocerebellar ataxia type 10.

Authors:  Raji P Grewal; Madhureeta Achari; Tohru Matsuura; Alberto Durazo; Emilio Tayag; Lan Zu; Stefan M Pulst; Tetsuo Ashizawa
Journal:  Arch Neurol       Date:  2002-08

10.  Somatic and germline instability of the ATTCT repeat in spinocerebellar ataxia type 10.

Authors:  Tohru Matsuura; Ping Fang; Xi Lin; Mehrdad Khajavi; Kuniko Tsuji; Astrid Rasmussen; Raji P Grewal; Madhureeta Achari; Maria E Alonso; Stefan M Pulst; Huda Y Zoghbi; David L Nelson; Benjamin B Roa; Tetsuo Ashizawa
Journal:  Am J Hum Genet       Date:  2004-05-04       Impact factor: 11.025

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  1 in total

Review 1.  Mechanistic and Therapeutic Insights into Ataxic Disorders with Pentanucleotide Expansions.

Authors:  Nan Zhang; Tetsuo Ashizawa
Journal:  Cells       Date:  2022-05-06       Impact factor: 7.666

  1 in total

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