Juvenile Huntington's disease confirmed by genetic examination in twins Doença de Huntington juvenil confirmada por exame genético em gêmeas
Early-onset Huntington's disease (HD) occurs in approximately 10% of HD's cases. We report juvenile HD in phenotypically identical twins, evaluated by history, clinical and neurologic examination, mini-mental state examination, blood laboratory exams, cerebrospinal fluid examination, skull...
Saved in:
| Main Authors: | , , , , |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
Thieme Revinter Publicações
1999-09-01
|
| Series: | Arquivos de Neuro-Psiquiatria |
| Subjects: | |
| Online Access: | http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0004-282X1999000500022 |
| Tags: |
Add Tag
No Tags, Be the first to tag this record!
|
| _version_ | 1850248046545207296 |
|---|---|
| author | GILBERTO LEVY MARIA EDUARDA NOBRE VINICIUS T. CIMINI SALMO RASKIN ELIASZ ENGELHARDT |
| author_facet | GILBERTO LEVY MARIA EDUARDA NOBRE VINICIUS T. CIMINI SALMO RASKIN ELIASZ ENGELHARDT |
| author_sort | GILBERTO LEVY |
| collection | DOAJ |
| description | Early-onset Huntington's disease (HD) occurs in approximately 10% of HD's cases. We report juvenile HD in phenotypically identical twins, evaluated by history, clinical and neurologic examination, mini-mental state examination, blood laboratory exams, cerebrospinal fluid examination, skull computed tomography, and genetic examination for HD. Patients had the akinetic-rigid variety (Westphal variant) of the disease and paternal inheritance. The laboratory workup confirmed the clinical diagnosis of HD, which adds this report to the rare cases of HD in twins reported in the literature.<br>Doença de Huntington (DH) de início precoce ocorre em aproximadamente 10% dos casos de DH. Relatamos DH juvenil em gêmeas fenotipicamente idênticas, avaliadas por história, exames clínico e neurológico, mini-exame do estado mental, exames de sangue, exame do líquido cefalorraquidiano, tomografia computadorizada de crânio e exame genético para DH. As pacientes apresentavam a variedade rígido-acinética (variante de Westphal) da doença e herança paterna. A avaliação laboratorial confirmou o diagnóstico clínico de DH, acrescentando-se este relato aos raros casos de DH em gêmeos relatados na literatura. |
| format | Article |
| id | doaj-art-0fd317326ca5419981893f09b6e35cf3 |
| institution | OA Journals |
| issn | 0004-282X 1678-4227 |
| language | English |
| publishDate | 1999-09-01 |
| publisher | Thieme Revinter Publicações |
| record_format | Article |
| series | Arquivos de Neuro-Psiquiatria |
| spelling | doaj-art-0fd317326ca5419981893f09b6e35cf32025-08-20T01:58:48ZengThieme Revinter PublicaçõesArquivos de Neuro-Psiquiatria0004-282X1678-42271999-09-01573B86786910.1590/S0004-282X1999000500022Juvenile Huntington's disease confirmed by genetic examination in twins Doença de Huntington juvenil confirmada por exame genético em gêmeasGILBERTO LEVYMARIA EDUARDA NOBREVINICIUS T. CIMINISALMO RASKINELIASZ ENGELHARDTEarly-onset Huntington's disease (HD) occurs in approximately 10% of HD's cases. We report juvenile HD in phenotypically identical twins, evaluated by history, clinical and neurologic examination, mini-mental state examination, blood laboratory exams, cerebrospinal fluid examination, skull computed tomography, and genetic examination for HD. Patients had the akinetic-rigid variety (Westphal variant) of the disease and paternal inheritance. The laboratory workup confirmed the clinical diagnosis of HD, which adds this report to the rare cases of HD in twins reported in the literature.<br>Doença de Huntington (DH) de início precoce ocorre em aproximadamente 10% dos casos de DH. Relatamos DH juvenil em gêmeas fenotipicamente idênticas, avaliadas por história, exames clínico e neurológico, mini-exame do estado mental, exames de sangue, exame do líquido cefalorraquidiano, tomografia computadorizada de crânio e exame genético para DH. As pacientes apresentavam a variedade rígido-acinética (variante de Westphal) da doença e herança paterna. A avaliação laboratorial confirmou o diagnóstico clínico de DH, acrescentando-se este relato aos raros casos de DH em gêmeos relatados na literatura.http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0004-282X1999000500022doença de HuntingtonjuvenilgêmeosHuntington's diseasejuveniletwins |
| spellingShingle | GILBERTO LEVY MARIA EDUARDA NOBRE VINICIUS T. CIMINI SALMO RASKIN ELIASZ ENGELHARDT Juvenile Huntington's disease confirmed by genetic examination in twins Doença de Huntington juvenil confirmada por exame genético em gêmeas Arquivos de Neuro-Psiquiatria doença de Huntington juvenil gêmeos Huntington's disease juvenile twins |
| title | Juvenile Huntington's disease confirmed by genetic examination in twins Doença de Huntington juvenil confirmada por exame genético em gêmeas |
| title_full | Juvenile Huntington's disease confirmed by genetic examination in twins Doença de Huntington juvenil confirmada por exame genético em gêmeas |
| title_fullStr | Juvenile Huntington's disease confirmed by genetic examination in twins Doença de Huntington juvenil confirmada por exame genético em gêmeas |
| title_full_unstemmed | Juvenile Huntington's disease confirmed by genetic examination in twins Doença de Huntington juvenil confirmada por exame genético em gêmeas |
| title_short | Juvenile Huntington's disease confirmed by genetic examination in twins Doença de Huntington juvenil confirmada por exame genético em gêmeas |
| title_sort | juvenile huntington s disease confirmed by genetic examination in twins doenca de huntington juvenil confirmada por exame genetico em gemeas |
| topic | doença de Huntington juvenil gêmeos Huntington's disease juvenile twins |
| url | http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0004-282X1999000500022 |
| work_keys_str_mv | AT gilbertolevy juvenilehuntingtonsdiseaseconfirmedbygeneticexaminationintwinsdoencadehuntingtonjuvenilconfirmadaporexamegeneticoemgemeas AT mariaeduardanobre juvenilehuntingtonsdiseaseconfirmedbygeneticexaminationintwinsdoencadehuntingtonjuvenilconfirmadaporexamegeneticoemgemeas AT viniciustcimini juvenilehuntingtonsdiseaseconfirmedbygeneticexaminationintwinsdoencadehuntingtonjuvenilconfirmadaporexamegeneticoemgemeas AT salmoraskin juvenilehuntingtonsdiseaseconfirmedbygeneticexaminationintwinsdoencadehuntingtonjuvenilconfirmadaporexamegeneticoemgemeas AT eliaszengelhardt juvenilehuntingtonsdiseaseconfirmedbygeneticexaminationintwinsdoencadehuntingtonjuvenilconfirmadaporexamegeneticoemgemeas |