Repeat interruptions in spinocerebellar ataxia type 10 expansions are strongly associated with epileptic seizures
Spinocerebellar ataxia type 10 (SCA10), an autosomal dominant neurodegenerative disorder, is the result of a non-coding, pentanucleotide repeat expansion within intron 9 of the Ataxin 10 gene. SCA10 patients present with pure cerebellar ataxia; yet, some families also have a high incidence of epilep...
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Springer Verlag
2014
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| LEADER | 15996caa a22013937a 4500 | ||
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| 003 | AR-BaUEN | ||
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| 008 | 190411s2014 xx ||||fo|||| 00| 0 eng|d | ||
| 024 | 7 | |2 scopus |a 2-s2.0-84897954515 | |
| 040 | |a Scopus |b spa |c AR-BaUEN |d AR-BaUEN | ||
| 030 | |a NEROF | ||
| 100 | 1 | |a McFarland, K.N. | |
| 245 | 1 | 0 | |a Repeat interruptions in spinocerebellar ataxia type 10 expansions are strongly associated with epileptic seizures |
| 260 | |b Springer Verlag |c 2014 | ||
| 270 | 1 | 0 | |m Ashizawa, T.; Department of Neurology, University of Florida, Gainesville FL 32610, United States; email: tetsuo.ashizawa@neurology.ufl.edu |
| 506 | |2 openaire |e Política editorial | ||
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| 520 | 3 | |a Spinocerebellar ataxia type 10 (SCA10), an autosomal dominant neurodegenerative disorder, is the result of a non-coding, pentanucleotide repeat expansion within intron 9 of the Ataxin 10 gene. SCA10 patients present with pure cerebellar ataxia; yet, some families also have a high incidence of epilepsy. SCA10 expansions containing penta- and heptanucleotide interruption motifs, termed "ATCCT interruptions," experience large contractions during germline transmission, particularly in paternal lineages. At the same time, these alleles confer an earlier age at onset which contradicts traditional rules of genetic anticipation in repeat expansions. Previously, ATCCT interruptions have been associated with a higher prevalence of epileptic seizures in one Mexican-American SCA10 family. In a large cohort of SCA10 families, we analyzed whether ATCCT interruptions confer a greater risk for developing seizures in these families. Notably, we find that the presence of repeat interruptions within the SCA10 expansion confers a 6.3-fold increase in the risk of an SCA10 patient developing epilepsy (6.2-fold when considering patients of Mexican ancestry only) and a 13.7-fold increase in having a positive family history of epilepsy (10.5-fold when considering patients of Mexican ancestry only). We conclude that the presence of repeat interruptions in SCA10 repeat expansion indicates a significant risk for the epilepsy phenotype and should be considered during genetic counseling. © 2013 Springer-Verlag Berlin Heidelberg. |l eng | |
| 593 | |a Department of Neurology, University of Florida, Gainesville FL 32610, United States | ||
| 593 | |a Evelyn F. and William L. McKnight Brain Institute, University of Florida, Gainesville FL 32610, United States | ||
| 593 | |a Core for Advanced Molecular Investigation, Center for Biological and Health Sciences, University of Paraná Imaculada Conceição St 1155, CEP 80215-901 Curitiba Paraná, Brazil | ||
| 593 | |a Movement Disorders Unit, Neurology Service, Hospital de Clínicas, Curitiba Paraná 80060-150, Brazil | ||
| 593 | |a Departamento de Neurología, Sanatorio de la Trinidad Mitre, Argentin Buenos Aires, Argentina | ||
| 593 | |a Instituto de Neurosciencias Buenos Aires, INEBA, Argentin 1428 Buenos Aires, Argentina | ||
| 593 | |a Department of Neurogenetics, Instituto Nacional de Neurologia y Neurocirugia Manuel Velasco Suarez, Mexico City DF, Mexico | ||
| 593 | |a Arthritis and Clinical Immunology Research Program, Oklahoma Medical Research Foundation, Oklahoma City OK 73104, United States | ||
| 593 | |a 1149 S Newell Drive, Gainesville FL 32610, United States | ||
| 690 | 1 | 0 | |a ATAXIA |
| 690 | 1 | 0 | |a EPILEPTIC SEIZURES |
| 690 | 1 | 0 | |a PHENOTYPE-GENOTYPE CORRELATION |
| 690 | 1 | 0 | |a REPEAT EXPANSION |
| 690 | 1 | 0 | |a REPEAT INTERRUPTIONS |
| 690 | 1 | 0 | |a SCA10 |
| 690 | 1 | 0 | |a ALLELE |
| 690 | 1 | 0 | |a ARTICLE |
| 690 | 1 | 0 | |a ATAXIN 10 GENE |
| 690 | 1 | 0 | |a CLINICAL ARTICLE |
| 690 | 1 | 0 | |a FAMILY HISTORY |
| 690 | 1 | 0 | |a GENE |
| 690 | 1 | 0 | |a GENETIC VARIABILITY |
| 690 | 1 | 0 | |a HAPLOTYPE |
| 690 | 1 | 0 | |a HUMAN |
| 690 | 1 | 0 | |a NUCLEOTIDE REPEAT |
| 690 | 1 | 0 | |a PHENOTYPE |
| 690 | 1 | 0 | |a PRIORITY JOURNAL |
| 690 | 1 | 0 | |a RISK FACTOR |
| 690 | 1 | 0 | |a SEIZURE |
| 690 | 1 | 0 | |a SINGLE NUCLEOTIDE POLYMORPHISM |
| 690 | 1 | 0 | |a SPINOCEREBELLAR ATAXIA TYPE 10 |
| 690 | 1 | 0 | |a SPINOCEREBELLAR DEGENERATION |
| 690 | 1 | 0 | |a ADULT |
| 690 | 1 | 0 | |a ALLELES |
| 690 | 1 | 0 | |a CLUSTER ANALYSIS |
| 690 | 1 | 0 | |a COHORT STUDIES |
| 690 | 1 | 0 | |a DNA REPEAT EXPANSION |
| 690 | 1 | 0 | |a EPILEPSY |
| 690 | 1 | 0 | |a FEMALE |
| 690 | 1 | 0 | |a GENETIC ASSOCIATION STUDIES |
| 690 | 1 | 0 | |a HAPLOTYPES |
| 690 | 1 | 0 | |a HUMANS |
| 690 | 1 | 0 | |a MALE |
| 690 | 1 | 0 | |a MICROSATELLITE REPEATS |
| 690 | 1 | 0 | |a MIDDLE AGED |
| 690 | 1 | 0 | |a PHENOTYPE |
| 690 | 1 | 0 | |a RISK |
| 690 | 1 | 0 | |a SEQUENCE ANALYSIS, DNA |
| 690 | 1 | 0 | |a SPINOCEREBELLAR ATAXIAS |
| 650 | 1 | 7 | |2 spines |a MEXICO |
| 700 | 1 | |a Liu, J. | |
| 700 | 1 | |a Landrian, I. | |
| 700 | 1 | |a Zeng, D. | |
| 700 | 1 | |a Raskin, S. | |
| 700 | 1 | |a Moscovich, M. | |
| 700 | 1 | |a Gatto, E.M. | |
| 700 | 1 | |a Ochoa, A. | |
| 700 | 1 | |a Teive, H.A.G. | |
| 700 | 1 | |a Rasmussen, A. | |
| 700 | 1 | |a Ashizawa, T. | |
| 773 | 0 | |d Springer Verlag, 2014 |g v. 15 |h pp. 59-64 |k n. 1 |p Neurogenetics |x 13646745 |t Neurogenetics | |
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