Artículo

Gatto, E.; Parisi, V.; Persi, G.; Converso, D.P.; Etcheverry, J.L.; Varela, V.; Alba, L.; Fretchel, G. "Clinical and genetic characteristics in patients with Huntington's Disease from Argentina" (2012) Parkinsonism and Related Disorders. 18(2):166-169
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Abstract:

Huntington's Disease (HD) is a neurodegenerative disease, caused by the expansion of an unstable (CAG) n in the HTT gene. There is scarce data about the disease in Argentina. Objective: To describe the demographic, clinical and molecular data in patients with HD from Argentina. Patients and methods: 59 HD patients were recruited at our department.Comprehensive interviews, neurological examination and genetic analysis were performed in probands. Statistical analysis was conducted using G-Stat 2.0 and non-parametric tests (Wilcoxon). Results: 32 women and 27 men were diagnosed with a mean age of 45.7±16.2years and a mean age at onset of 35.8±14.8years. We found no gender prevalence and an inverse correlation between size of mutant CAG repeat sequence and age at onset, r=-0.58, r 2=33.6, Pearson's correlation coefficient p=0.0008.Juvenile HD in this series of patients was higher than previously reported (16.6% vs. <10%). The mean CAG repeat in the expanded allele was 45.1. The number of CAG repeats in Argentinean controls was 17.8, which is similar to the literature of the European population. Conclusions: This is the first series of Argentinean HD patients with demographic, clinical and molecular data. Our findings appear similar to the ones described in Western European populations. © 2011 Elsevier Ltd.

Registro:

Documento: Artículo
Título:Clinical and genetic characteristics in patients with Huntington's Disease from Argentina
Autor:Gatto, E.; Parisi, V.; Persi, G.; Converso, D.P.; Etcheverry, J.L.; Varela, V.; Alba, L.; Fretchel, G.
Filiación:Department of Movement Disorders, Instituto Neurociencias de Buenos Aires (INEBA), Buenos Aires, Argentina
Sanatorio de la Trinidad Mitre, Buenos Aires, Argentina
Departamento de Química Biológica, Facultad de Ciencias Exactas y Naturales, UBA, Buenos Aires, Argentina
Laboratorio de Genética y Biología Molecular, Hospital de Clínicas José de San Martín, UBA, Buenos Aires, Argentina
Palabras clave:Chorea; Demographic; Familial chorea; Huntington's Disease; amantadine; antidepressant agent; olanzapine; serotonin uptake inhibitor; ubidecarenone; adolescent; adult; aged; allele; Argentina; article; CAG repeat; child; controlled study; female; genetic analysis; human; Huntington chorea; hyperkinesia; inheritance; interview; major clinical study; male; neurologic examination; onset age; priority journal; school child; Adolescent; Adult; Aged; Argentina; Child; Female; Humans; Huntington Disease; Male; Middle Aged; Trinucleotide Repeats; Young Adult
Año:2012
Volumen:18
Número:2
Página de inicio:166
Página de fin:169
DOI: http://dx.doi.org/10.1016/j.parkreldis.2011.09.011
Título revista:Parkinsonism and Related Disorders
Título revista abreviado:Parkinsonism Relat. Disord.
ISSN:13538020
CODEN:PRDIF
CAS:amantadine, 665-66-7, 768-94-5; olanzapine, 132539-06-1; ubidecarenone, 303-98-0
Registro:https://bibliotecadigital.exactas.uba.ar/collection/paper/document/paper_13538020_v18_n2_p166_Gatto

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Citas:

---------- APA ----------
Gatto, E., Parisi, V., Persi, G., Converso, D.P., Etcheverry, J.L., Varela, V., Alba, L.,..., Fretchel, G. (2012) . Clinical and genetic characteristics in patients with Huntington's Disease from Argentina. Parkinsonism and Related Disorders, 18(2), 166-169.
http://dx.doi.org/10.1016/j.parkreldis.2011.09.011
---------- CHICAGO ----------
Gatto, E., Parisi, V., Persi, G., Converso, D.P., Etcheverry, J.L., Varela, V., et al. "Clinical and genetic characteristics in patients with Huntington's Disease from Argentina" . Parkinsonism and Related Disorders 18, no. 2 (2012) : 166-169.
http://dx.doi.org/10.1016/j.parkreldis.2011.09.011
---------- MLA ----------
Gatto, E., Parisi, V., Persi, G., Converso, D.P., Etcheverry, J.L., Varela, V., et al. "Clinical and genetic characteristics in patients with Huntington's Disease from Argentina" . Parkinsonism and Related Disorders, vol. 18, no. 2, 2012, pp. 166-169.
http://dx.doi.org/10.1016/j.parkreldis.2011.09.011
---------- VANCOUVER ----------
Gatto, E., Parisi, V., Persi, G., Converso, D.P., Etcheverry, J.L., Varela, V., et al. Clinical and genetic characteristics in patients with Huntington's Disease from Argentina. Parkinsonism Relat. Disord. 2012;18(2):166-169.
http://dx.doi.org/10.1016/j.parkreldis.2011.09.011