Clinical spectrum of early onset cerebellar ataxia with retained tendon reflexes: an autosomal recessive ataxia not to be missed
Autosomal recessive cerebellar ataxias are a heterogeneous group of neurological disorders. In 1981, a neurological entity comprised by early onset progressive cerebellar ataxia, dysarthria, pyramidal weakness of the limbs and retained or increased upper limb reflexes and knee jerks was described. T...
| Main Authors: | , , , , |
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| Format: | Article |
| Language: | English |
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Academia Brasileira de Neurologia (ABNEURO)
2013-06-01
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| Series: | Arquivos de Neuro-Psiquiatria |
| Subjects: | |
| Online Access: | http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0004-282X2013000600345&lng=en&tlng=en |
| _version_ | 1828154780232450048 |
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| author | Jose Luiz Pedroso Pedro Braga-Neto Irapua Ferreira Ricarte Marcus Vinicius Cristino Albuquerque Orlando Graziani Povoas Barsottini |
| author_facet | Jose Luiz Pedroso Pedro Braga-Neto Irapua Ferreira Ricarte Marcus Vinicius Cristino Albuquerque Orlando Graziani Povoas Barsottini |
| author_sort | Jose Luiz Pedroso |
| collection | DOAJ |
| description | Autosomal recessive cerebellar ataxias are a heterogeneous group of neurological disorders. In 1981, a neurological entity comprised by early onset progressive cerebellar ataxia, dysarthria, pyramidal weakness of the limbs and retained or increased upper limb reflexes and knee jerks was described. This disorder is known as early onset cerebellar ataxia with retained tendon reflexes. In this article, we aimed to call attention for the diagnosis of early onset cerebellar ataxia with retained tendon reflexes as the second most common cause of autosomal recessive cerebellar ataxias, after Friedreich ataxia, and also to perform a clinical spectrum study of this syndrome. In this data, 12 patients from different families met all clinical features for early onset cerebellar ataxia with retained tendon reflexes. Dysarthria and cerebellar atrophy were the most common features in our sample. It is uncertain, however, whether early onset cerebellar ataxia with retained tendon reflexes is a homogeneous disease or a group of phenotypically similar syndromes represented by different genetic entities. Further molecular studies are required to provide definitive answers to the questions that remain regarding early onset cerebellar ataxia with retained tendon reflexes. |
| first_indexed | 2024-04-11T22:44:46Z |
| format | Article |
| id | doaj.art-ea68893828ca4b4789cdb720d96113fe |
| institution | Directory Open Access Journal |
| issn | 1678-4227 |
| language | English |
| last_indexed | 2024-04-11T22:44:46Z |
| publishDate | 2013-06-01 |
| publisher | Academia Brasileira de Neurologia (ABNEURO) |
| record_format | Article |
| series | Arquivos de Neuro-Psiquiatria |
| spelling | doaj.art-ea68893828ca4b4789cdb720d96113fe2022-12-22T03:58:48ZengAcademia Brasileira de Neurologia (ABNEURO)Arquivos de Neuro-Psiquiatria1678-42272013-06-0171634534810.1590/0004-282X20130036S0004-282X2013000600345Clinical spectrum of early onset cerebellar ataxia with retained tendon reflexes: an autosomal recessive ataxia not to be missedJose Luiz PedrosoPedro Braga-NetoIrapua Ferreira RicarteMarcus Vinicius Cristino AlbuquerqueOrlando Graziani Povoas BarsottiniAutosomal recessive cerebellar ataxias are a heterogeneous group of neurological disorders. In 1981, a neurological entity comprised by early onset progressive cerebellar ataxia, dysarthria, pyramidal weakness of the limbs and retained or increased upper limb reflexes and knee jerks was described. This disorder is known as early onset cerebellar ataxia with retained tendon reflexes. In this article, we aimed to call attention for the diagnosis of early onset cerebellar ataxia with retained tendon reflexes as the second most common cause of autosomal recessive cerebellar ataxias, after Friedreich ataxia, and also to perform a clinical spectrum study of this syndrome. In this data, 12 patients from different families met all clinical features for early onset cerebellar ataxia with retained tendon reflexes. Dysarthria and cerebellar atrophy were the most common features in our sample. It is uncertain, however, whether early onset cerebellar ataxia with retained tendon reflexes is a homogeneous disease or a group of phenotypically similar syndromes represented by different genetic entities. Further molecular studies are required to provide definitive answers to the questions that remain regarding early onset cerebellar ataxia with retained tendon reflexes.http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0004-282X2013000600345&lng=en&tlng=enataxiasautosomal recessive cerebellar ataxiasearly onset cerebellar ataxia with retained tendon reflexesEOCAataxiasataxia cerebelar autossomica recessivaataxia cerebelar de inicio precoce com reflexos mantidosEOCA |
| spellingShingle | Jose Luiz Pedroso Pedro Braga-Neto Irapua Ferreira Ricarte Marcus Vinicius Cristino Albuquerque Orlando Graziani Povoas Barsottini Clinical spectrum of early onset cerebellar ataxia with retained tendon reflexes: an autosomal recessive ataxia not to be missed Arquivos de Neuro-Psiquiatria ataxias autosomal recessive cerebellar ataxias early onset cerebellar ataxia with retained tendon reflexes EOCA ataxias ataxia cerebelar autossomica recessiva ataxia cerebelar de inicio precoce com reflexos mantidos EOCA |
| title | Clinical spectrum of early onset cerebellar ataxia with retained tendon reflexes: an autosomal recessive ataxia not to be missed |
| title_full | Clinical spectrum of early onset cerebellar ataxia with retained tendon reflexes: an autosomal recessive ataxia not to be missed |
| title_fullStr | Clinical spectrum of early onset cerebellar ataxia with retained tendon reflexes: an autosomal recessive ataxia not to be missed |
| title_full_unstemmed | Clinical spectrum of early onset cerebellar ataxia with retained tendon reflexes: an autosomal recessive ataxia not to be missed |
| title_short | Clinical spectrum of early onset cerebellar ataxia with retained tendon reflexes: an autosomal recessive ataxia not to be missed |
| title_sort | clinical spectrum of early onset cerebellar ataxia with retained tendon reflexes an autosomal recessive ataxia not to be missed |
| topic | ataxias autosomal recessive cerebellar ataxias early onset cerebellar ataxia with retained tendon reflexes EOCA ataxias ataxia cerebelar autossomica recessiva ataxia cerebelar de inicio precoce com reflexos mantidos EOCA |
| url | http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0004-282X2013000600345&lng=en&tlng=en |
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