Evidence and practices of the use of next generation sequencing in patients with undiagnosed autosomal dominant cerebellar ataxias: a review
ABSTRACT Autosomal dominant cerebellar ataxias (ADCA) are heterogeneous diseases with a highly variable phenotype and genotype. They can be divided into episodic ataxia and spinocerebellar ataxia (SCA); the latter is considered the prototype of the ADCA. Most of the ADCA are caused by polyglutamine...
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| Format: | Article |
| Language: | English |
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Academia Brasileira de Neurologia (ABNEURO)
2020-07-01
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| Series: | Arquivos de Neuro-Psiquiatria |
| Subjects: | |
| Online Access: | http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0004-282X2020000900576&tlng=en |
| _version_ | 1819259050995482624 |
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| author | Luiz Eduardo NOVIS Mariana SPITZ Marcia JARDIM Salmo RASKIN Hélio A. G. TEIVE |
| author_facet | Luiz Eduardo NOVIS Mariana SPITZ Marcia JARDIM Salmo RASKIN Hélio A. G. TEIVE |
| author_sort | Luiz Eduardo NOVIS |
| collection | DOAJ |
| description | ABSTRACT Autosomal dominant cerebellar ataxias (ADCA) are heterogeneous diseases with a highly variable phenotype and genotype. They can be divided into episodic ataxia and spinocerebellar ataxia (SCA); the latter is considered the prototype of the ADCA. Most of the ADCA are caused by polyglutamine expansions, mainly SCA 1, 2, 3, 6, 7, 17 and Dentatorubral-pallidoluysian atrophy (DRPLA). However, 30% of patients remain undiagnosed after testing for these most common SCA. Recently, several studies have demonstrated that the new generation of sequencing methods are useful for the diagnose of these patients. This review focus on searching evidence on the literature, its usefulness in clinical practice and future perspectives. |
| first_indexed | 2024-12-23T19:03:51Z |
| format | Article |
| id | doaj.art-7807f1d7cbe24842ab1c5aa05949ff30 |
| institution | Directory Open Access Journal |
| issn | 1678-4227 |
| language | English |
| last_indexed | 2024-12-23T19:03:51Z |
| publishDate | 2020-07-01 |
| publisher | Academia Brasileira de Neurologia (ABNEURO) |
| record_format | Article |
| series | Arquivos de Neuro-Psiquiatria |
| spelling | doaj.art-7807f1d7cbe24842ab1c5aa05949ff302022-12-21T17:34:38ZengAcademia Brasileira de Neurologia (ABNEURO)Arquivos de Neuro-Psiquiatria1678-42272020-07-0178957658510.1590/0004-282x20200017Evidence and practices of the use of next generation sequencing in patients with undiagnosed autosomal dominant cerebellar ataxias: a reviewLuiz Eduardo NOVIShttps://orcid.org/0000-0003-1479-2953Mariana SPITZhttps://orcid.org/0000-0001-7548-2313Marcia JARDIMhttps://orcid.org/0000-0003-1784-6857Salmo RASKINhttps://orcid.org/0000-0002-7191-0592Hélio A. G. TEIVEhttps://orcid.org/0000-0002-4045-1178ABSTRACT Autosomal dominant cerebellar ataxias (ADCA) are heterogeneous diseases with a highly variable phenotype and genotype. They can be divided into episodic ataxia and spinocerebellar ataxia (SCA); the latter is considered the prototype of the ADCA. Most of the ADCA are caused by polyglutamine expansions, mainly SCA 1, 2, 3, 6, 7, 17 and Dentatorubral-pallidoluysian atrophy (DRPLA). However, 30% of patients remain undiagnosed after testing for these most common SCA. Recently, several studies have demonstrated that the new generation of sequencing methods are useful for the diagnose of these patients. This review focus on searching evidence on the literature, its usefulness in clinical practice and future perspectives.http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0004-282X2020000900576&tlng=ennext generation sequencingautosomal dominant cerebellar ataxiasspinocerebellar ataxias |
| spellingShingle | Luiz Eduardo NOVIS Mariana SPITZ Marcia JARDIM Salmo RASKIN Hélio A. G. TEIVE Evidence and practices of the use of next generation sequencing in patients with undiagnosed autosomal dominant cerebellar ataxias: a review Arquivos de Neuro-Psiquiatria next generation sequencing autosomal dominant cerebellar ataxias spinocerebellar ataxias |
| title | Evidence and practices of the use of next generation sequencing in patients with undiagnosed autosomal dominant cerebellar ataxias: a review |
| title_full | Evidence and practices of the use of next generation sequencing in patients with undiagnosed autosomal dominant cerebellar ataxias: a review |
| title_fullStr | Evidence and practices of the use of next generation sequencing in patients with undiagnosed autosomal dominant cerebellar ataxias: a review |
| title_full_unstemmed | Evidence and practices of the use of next generation sequencing in patients with undiagnosed autosomal dominant cerebellar ataxias: a review |
| title_short | Evidence and practices of the use of next generation sequencing in patients with undiagnosed autosomal dominant cerebellar ataxias: a review |
| title_sort | evidence and practices of the use of next generation sequencing in patients with undiagnosed autosomal dominant cerebellar ataxias a review |
| topic | next generation sequencing autosomal dominant cerebellar ataxias spinocerebellar ataxias |
| url | http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0004-282X2020000900576&tlng=en |
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