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McFarland, K.N.; Liu, J.; Landrian, I.; Zeng, D.; Raskin, S.; Moscovich, M.; Gatto, E.M.; Ochoa, A.; Teive, H.A.G.; Rasmussen, A.; Ashizawa, T. "Repeat interruptions in spinocerebellar ataxia type 10 expansions are strongly associated with epileptic seizures" (2014) Neurogenetics. 15(1):59-64
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Abstract:

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.

Registro:

Documento: Artículo
Título:Repeat interruptions in spinocerebellar ataxia type 10 expansions are strongly associated with epileptic seizures
Autor:McFarland, K.N.; Liu, J.; Landrian, I.; Zeng, D.; Raskin, S.; Moscovich, M.; Gatto, E.M.; Ochoa, A.; Teive, H.A.G.; Rasmussen, A.; Ashizawa, T.
Filiación:Department of Neurology, University of Florida, Gainesville FL 32610, United States
Evelyn F. and William L. McKnight Brain Institute, University of Florida, Gainesville FL 32610, United States
Core for Advanced Molecular Investigation, Center for Biological and Health Sciences, University of Paraná Imaculada Conceição St 1155, CEP 80215-901 Curitiba Paraná, Brazil
Movement Disorders Unit, Neurology Service, Hospital de Clínicas, Curitiba Paraná 80060-150, Brazil
Departamento de Neurología, Sanatorio de la Trinidad Mitre, Argentin Buenos Aires, Argentina
Instituto de Neurosciencias Buenos Aires, INEBA, Argentin 1428 Buenos Aires, Argentina
Department of Neurogenetics, Instituto Nacional de Neurologia y Neurocirugia Manuel Velasco Suarez, Mexico City DF, Mexico
Arthritis and Clinical Immunology Research Program, Oklahoma Medical Research Foundation, Oklahoma City OK 73104, United States
1149 S Newell Drive, Gainesville FL 32610, United States
Palabras clave:Ataxia; Epileptic seizures; Phenotype-genotype correlation; Repeat expansion; Repeat interruptions; SCA10; allele; article; Ataxin 10 gene; clinical article; family history; gene; genetic variability; haplotype; human; nucleotide repeat; phenotype; priority journal; risk factor; seizure; single nucleotide polymorphism; spinocerebellar ataxia type 10; spinocerebellar degeneration; Adult; Alleles; Cluster Analysis; Cohort Studies; DNA Repeat Expansion; Epilepsy; Female; Genetic Association Studies; Haplotypes; Humans; Male; Mexico; Microsatellite Repeats; Middle Aged; Phenotype; Risk; Sequence Analysis, DNA; Spinocerebellar Ataxias
Año:2014
Volumen:15
Número:1
Página de inicio:59
Página de fin:64
DOI: http://dx.doi.org/10.1007/s10048-013-0385-6
Título revista:Neurogenetics
Título revista abreviado:Neurogenetics
ISSN:13646745
CODEN:NEROF
Registro:https://bibliotecadigital.exactas.uba.ar/collection/paper/document/paper_13646745_v15_n1_p59_McFarland

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Citas:

---------- APA ----------
McFarland, K.N., Liu, J., Landrian, I., Zeng, D., Raskin, S., Moscovich, M., Gatto, E.M.,..., Ashizawa, T. (2014) . Repeat interruptions in spinocerebellar ataxia type 10 expansions are strongly associated with epileptic seizures. Neurogenetics, 15(1), 59-64.
http://dx.doi.org/10.1007/s10048-013-0385-6
---------- CHICAGO ----------
McFarland, K.N., Liu, J., Landrian, I., Zeng, D., Raskin, S., Moscovich, M., et al. "Repeat interruptions in spinocerebellar ataxia type 10 expansions are strongly associated with epileptic seizures" . Neurogenetics 15, no. 1 (2014) : 59-64.
http://dx.doi.org/10.1007/s10048-013-0385-6
---------- MLA ----------
McFarland, K.N., Liu, J., Landrian, I., Zeng, D., Raskin, S., Moscovich, M., et al. "Repeat interruptions in spinocerebellar ataxia type 10 expansions are strongly associated with epileptic seizures" . Neurogenetics, vol. 15, no. 1, 2014, pp. 59-64.
http://dx.doi.org/10.1007/s10048-013-0385-6
---------- VANCOUVER ----------
McFarland, K.N., Liu, J., Landrian, I., Zeng, D., Raskin, S., Moscovich, M., et al. Repeat interruptions in spinocerebellar ataxia type 10 expansions are strongly associated with epileptic seizures. Neurogenetics. 2014;15(1):59-64.
http://dx.doi.org/10.1007/s10048-013-0385-6