Associação na mesma família das doenças de Charcot-Marie-Tooth e de Friedreich Association of Charcot-Marie-Tooth and Friedreich diseases in a family
Quatro irmãos com moléstias de Charcot-Marie-Tooth são estudados do ponto de vista clínico e genético. São ressaltadas, mediante análise da sintomatologia, as formas de transição no grande grupo de moléstias heredodegenerativas, sendo atribuída particular ênfase às formas entre a moléstia de Charcot...
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| Format: | Article |
| Language: | English |
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Academia Brasileira de Neurologia (ABNEURO)
1972-06-01
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| Series: | Arquivos de Neuro-Psiquiatria |
| Online Access: | http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0004-282X1972000200009 |
| _version_ | 1819088010678894592 |
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| author | Charles Peter Tilbery Décio Cassiani Altimari Luiz G. Gagliardi-Ferreira José L. Alonso Nieto |
| author_facet | Charles Peter Tilbery Décio Cassiani Altimari Luiz G. Gagliardi-Ferreira José L. Alonso Nieto |
| author_sort | Charles Peter Tilbery |
| collection | DOAJ |
| description | Quatro irmãos com moléstias de Charcot-Marie-Tooth são estudados do ponto de vista clínico e genético. São ressaltadas, mediante análise da sintomatologia, as formas de transição no grande grupo de moléstias heredodegenerativas, sendo atribuída particular ênfase às formas entre a moléstia de Charcot-Marie-Tooth e a de Friedreich. Nos casos apresentados havia sinais clínicos da amiotrofia de Charcot-Marie-Tooth e da degeneração espinocerebelar de Friedreich. No estudo genético foram observadas aberrações cromossômicas, fenômeno inédito na moléstia de Charcot-Marie-Tooth.<br>Four brothers with Charcot-Marie-Tooth disease are studied clinically and genetically. By comparing the symptomatology, the mixed clinical forms within the great group of heredodegenerative diseases are enfazised, with special attention to the intermediate forms between Charcot-MarieTooth and Friedreich diseases. In the present cases there were signs of Charcot-Marie-Tooth's peroneal muscular atrophy and Friedreich's spinocerebelar degeneration. By the genetic study a cromosomal breakage, an unusual phenomenon in Charcot-Marie-Tooth disease, was observed. |
| first_indexed | 2024-12-21T21:45:15Z |
| format | Article |
| id | doaj.art-9175d76a17b5454dbb5f5f6b5eff93bb |
| institution | Directory Open Access Journal |
| issn | 0004-282X 1678-4227 |
| language | English |
| last_indexed | 2024-12-21T21:45:15Z |
| publishDate | 1972-06-01 |
| publisher | Academia Brasileira de Neurologia (ABNEURO) |
| record_format | Article |
| series | Arquivos de Neuro-Psiquiatria |
| spelling | doaj.art-9175d76a17b5454dbb5f5f6b5eff93bb2022-12-21T18:49:16ZengAcademia Brasileira de Neurologia (ABNEURO)Arquivos de Neuro-Psiquiatria0004-282X1678-42271972-06-01302158165Associação na mesma família das doenças de Charcot-Marie-Tooth e de Friedreich Association of Charcot-Marie-Tooth and Friedreich diseases in a familyCharles Peter TilberyDécio Cassiani AltimariLuiz G. Gagliardi-FerreiraJosé L. Alonso NietoQuatro irmãos com moléstias de Charcot-Marie-Tooth são estudados do ponto de vista clínico e genético. São ressaltadas, mediante análise da sintomatologia, as formas de transição no grande grupo de moléstias heredodegenerativas, sendo atribuída particular ênfase às formas entre a moléstia de Charcot-Marie-Tooth e a de Friedreich. Nos casos apresentados havia sinais clínicos da amiotrofia de Charcot-Marie-Tooth e da degeneração espinocerebelar de Friedreich. No estudo genético foram observadas aberrações cromossômicas, fenômeno inédito na moléstia de Charcot-Marie-Tooth.<br>Four brothers with Charcot-Marie-Tooth disease are studied clinically and genetically. By comparing the symptomatology, the mixed clinical forms within the great group of heredodegenerative diseases are enfazised, with special attention to the intermediate forms between Charcot-MarieTooth and Friedreich diseases. In the present cases there were signs of Charcot-Marie-Tooth's peroneal muscular atrophy and Friedreich's spinocerebelar degeneration. By the genetic study a cromosomal breakage, an unusual phenomenon in Charcot-Marie-Tooth disease, was observed.http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0004-282X1972000200009 |
| spellingShingle | Charles Peter Tilbery Décio Cassiani Altimari Luiz G. Gagliardi-Ferreira José L. Alonso Nieto Associação na mesma família das doenças de Charcot-Marie-Tooth e de Friedreich Association of Charcot-Marie-Tooth and Friedreich diseases in a family Arquivos de Neuro-Psiquiatria |
| title | Associação na mesma família das doenças de Charcot-Marie-Tooth e de Friedreich Association of Charcot-Marie-Tooth and Friedreich diseases in a family |
| title_full | Associação na mesma família das doenças de Charcot-Marie-Tooth e de Friedreich Association of Charcot-Marie-Tooth and Friedreich diseases in a family |
| title_fullStr | Associação na mesma família das doenças de Charcot-Marie-Tooth e de Friedreich Association of Charcot-Marie-Tooth and Friedreich diseases in a family |
| title_full_unstemmed | Associação na mesma família das doenças de Charcot-Marie-Tooth e de Friedreich Association of Charcot-Marie-Tooth and Friedreich diseases in a family |
| title_short | Associação na mesma família das doenças de Charcot-Marie-Tooth e de Friedreich Association of Charcot-Marie-Tooth and Friedreich diseases in a family |
| title_sort | associacao na mesma familia das doencas de charcot marie tooth e de friedreich association of charcot marie tooth and friedreich diseases in a family |
| url | http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0004-282X1972000200009 |
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