title: Juvenile Huntington disease in Argentina.
abstract: We analyzed demographic, clinical and genetic characteristics of juvenile Huntington disease (JHD) and it frequency in an Argentinean cohort. Age at onset was defined as the age at which behavioral, cognitive, psychiatric or motor abnormalities suggestive of JHD were first reported. Clinical and genetic data were similar to other international series, however, in this context we identified the highest JHD frequency reported so far (19.72%; 14/71). Age at onset of JHD is challenging and still under discussion. Our findings reinforce the hypothesis that clinical manifestations, other than the typical movement disorder, may anticipate age at onset of even many years. Analyses of JHD cohorts are required to explore it frequency in populations with different backgrounds to avoid an underestimation of this rare phenotype. Moreover, data from selected populations may open new pathways in therapeutic approaches and may explain new potential correlations between HD presentations and environmental or biological factors.
authors.affiliation: Departamento de Movimientos Anormales, Instituto Neurociencias de Buenos Aires, Buenos Aires, Argentina.
authors.forename: Emilia Mabel
authors.initials: EM
authors.lastname: Gatto
authors.affiliation: Departamento de Neurología, Sanatorio de la Trinidad Mitre, Buenos Aires, Argentina.
authors.forename: Virginia
authors.initials: V
authors.lastname: Parisi
authors.affiliation: Departamento de Movimientos Anormales, Instituto Neurociencias de Buenos Aires, Buenos Aires, Argentina.
authors.forename: José Luis
authors.initials: JL
authors.lastname: Etcheverry
authors.affiliation: Departamento de Movimientos Anormales, Instituto Neurociencias de Buenos Aires, Buenos Aires, Argentina.
authors.forename: Ana
authors.initials: A
authors.lastname: Sanguinetti
authors.affiliation: Departamento de Neuropediatría, Hospital Pedro de Elizalde, Buenos Aires, Argentina.
authors.forename: Lorena
authors.initials: L
authors.lastname: Cordi
authors.affiliation: Departamento de Neuropediatría, Hospital Pedro de Elizalde, Buenos Aires, Argentina.
authors.forename: Adrian
authors.initials: A
authors.lastname: Binelli
authors.affiliation: Departamento de Neurología, Sanatorio de la Trinidad Mitre, Buenos Aires, Argentina.
authors.forename: Gabriel
authors.initials: G
authors.lastname: Persi
authors.affiliation: IRCCS Casa Sollievo della Sofferenza, San Giovanni Rotondo and Mendel Institute of Human Genetics, Rome, Italy.
authors.forename: Ferdinando
authors.initials: F
authors.lastname: Squitieri
mesh_terms: D000293:Adolescent; D017668:Age of Onset; D001118:Argentina / Q000453:epidemiology; D002648:Child; D002653:Child Behavior Disorders / Q000453:epidemiology*; D002675:Child, Preschool; D003072:Cognition Disorders / Q000453:epidemiology*; D005260:Female; D006801:Humans; D000071058:Huntingtin Protein; D006816:Huntington Disease / Q000453:epidemiology* / Q000235:genetics; D008297:Male; D009069:Movement Disorders / Q000453:epidemiology*; D009419:Nerve Tissue Proteins / Q000235:genetics; D012189:Retrospective Studies; D055815:Young Adult
chemical_list: C086055:HTT protein, human; D000071058:Huntingtin Protein; D009419:Nerve Tissue Proteins