Clinical presentation of juvenile Huntington disease

dc.creatorRuocco, HH
dc.creatorLopes-Cendes, I
dc.creatorLaurito, TL
dc.creatorLi, LM
dc.creatorCendes, F
dc.date2006
dc.dateMAR
dc.date2014-11-16T19:43:18Z
dc.date2015-11-26T17:26:25Z
dc.date2014-11-16T19:43:18Z
dc.date2015-11-26T17:26:25Z
dc.date.accessioned2018-03-29T00:13:37Z
dc.date.available2018-03-29T00:13:37Z
dc.identifierArquivos De Neuro-psiquiatria. Assoc Arquivos De Neuro- Psiquiatria, v. 64, n. 1, n. 5, n. 9, 2006.
dc.identifier0004-282X
dc.identifierWOS:000236704100002
dc.identifier10.1590/S0004-282X2006000100002
dc.identifierhttp://www.repositorio.unicamp.br/jspui/handle/REPOSIP/56062
dc.identifierhttp://www.repositorio.unicamp.br/handle/REPOSIP/56062
dc.identifierhttp://repositorio.unicamp.br/jspui/handle/REPOSIP/56062
dc.identifier.urihttp://repositorioslatinoamericanos.uchile.cl/handle/2250/1284556
dc.descriptionObjective: To describe the clinical presentation a group of patients with juvenile onset of Huntington disease. Method: All patients were interviewed following a structured clinical questioner. Patients were genotyped for the trinucleotide cytosine-adenine-guanine (CAG) repeat in the Huntington Disease gene. High resolution brain MRI was performed in all patients. Results: We identified 4 patients with juvenile onset of disease among 50 patients with Huntington disease followed prospectively in our Neurogenetics clinic. Age at onset varied from 3 to 13 years, there were 2 boys, and 3 patients had a paternal inheritance of the disease. Expanded Huntington disease allele sizes varied from 41 to 69 trinucleotide repeats. The early onset patients presented with rigidity, bradykinesia, dystonia, dysarthria, seizures and ataxia. MRI showed severe volume loss of caudate and putamen nuclei (p=0.001) and reduced cerebral and cerebellum volumes (p=0.01). Conclusion: 8% of Huntington disease patients seen in our clinic had juvenile onset of the disease. They did not present with typical chorea as seen in adult onset Huntington disease. There was a predominance of rigidity and bradykinesia. Two other important clinical features were seizures and ataxia, which related with the imaging findings of early cortical atrophy and cerebellum volume loss.
dc.description64
dc.description1
dc.description5
dc.description9
dc.languageen
dc.publisherAssoc Arquivos De Neuro- Psiquiatria
dc.publisherSao Paulo Sp
dc.publisherBrasil
dc.relationArquivos De Neuro-psiquiatria
dc.relationArq. Neuro-Psiquiatr.
dc.rightsaberto
dc.sourceWeb of Science
dc.subjectneurodegenerative disorder
dc.subjectdynamic mutations
dc.subjectgenotype-phenotype correlation
dc.subjectbasal ganglia
dc.subjectatrophy
dc.subjectTrinucleotide Repeat
dc.subjectChorea
dc.subjectChildhood
dc.subjectOnset
dc.subjectBradykinesia
dc.subjectChildren
dc.subjectPatient
dc.titleClinical presentation of juvenile Huntington disease
dc.typeArtículos de revistas


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