Large expansion of the ATTCT pentanucleotide repeat in spinocerebellar ataxia type 10

Matsuura, Tetsuya; Yamagata, Takanori; Burgess, Daniel L.; Rasmussen, Astrid; Grewal, Raji P.; Watase, Kei; Khajavi, Mehrdad; McCall, Alanna E.; Davis, Caleb; Zu, Lan; Achari, Madhureeta; Pulst, Stefan M.; Alonso, Elisa; Noebels, Jeffrey L.; Nelson, David L.; Zoghbi, Huda Y.; Ashizawa, Tetsuo

doi:10.1038/79911

Cited by 477 publications

(396 citation statements)

References 18 publications

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“…As a general rule, there is an inverse correlation between age at onset of SCA 10 and the size of the ATTCT repeat expansion [33][34][35] .…”

Section: Spinocerebellar Ataxias Teivementioning

confidence: 99%

“…The disease-causing mutation that leads to SCA 10 is a large expansion of a pentanucleotide (ATTCT) repeat located in an intron of a gene of unknown function (SCA 10) on chromosome 22q 16,[31][32][33][34] .…”

Section: Spinocerebellar Ataxias Teivementioning

confidence: 99%

“…The size of the expanded alleles range from 800 to 4500 ATTCT repeats for a diagnosis of SCA 10 [33][34][35] .…”

Section: Spinocerebellar Ataxias Teivementioning

confidence: 99%

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Spinocerebellar ataxias

Teive¹

2009

Arq. Neuro-Psiquiatr.

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-Spinocerebellar ataxias (SCAs) constitute a heterogeneous group of neurodegenerative diseases characterized by progressive cerebellar ataxia in association with some or all of the following conditions: ophthalmoplegia, pyramidal signs, movement disorders, pigmentary retinopathy, peripheral neuropathy, cognitive dysfunction and dementia. Objective: To carry out a clinical and genetic review of the main types of SCA. Method: The review was based on a search of the PUBMED and OMIM databases. Results: Thirty types of SCAs are currently known, and 16 genes associated with the disease have been identified. The most common types are SCA type 3, or Machado-Joseph disease, SCA type 10 and SCA types 7, 2, 1 and 6. SCAs are genotypically and phenotypically very heterogeneous. A clinical algorithm can be used to distinguish between the different types of SCAs. Conclusions: Detailed clinical neurological examination of SCA patients can be of great help when assessing them, and the information thus gained can be used in an algorithm to screen patients before molecular tests to investigate the correct etiology of the disease are requested.KEY WORDS: spinocerebellar ataxias, cerebellar atrophy, genotype, phenotype. Ataxias espinocerebelaresResumo -As ataxias espinocerebelares (AECs) compreendem um grupo heterogeneo de enfermidades neurodegenerativas, que se caracterizam pela presença de ataxia cerebelar progressiva, associada de forma variada com oftalmoplegia, sinais piramidais, distúrbios do movimento, retinopatia pigmentar, neuropatia periférica, disfunção cognitiva e demência. Objetivo: Realizar uma revisão clínico-genética dos principais tipos de AECs. Método: A revisão foi realizada através da pesquisa pelo sistema do PUBMED e do OMIM. Resultados: Na atualidade existem cerca de 30 tipos de AECs, com a descoberta de 16 genes. Os tipos mais comuns são a AEC tipo 3, ou doença de Machado-Joseph, a AEC tipo 10, e as AECs tipo 7, 2 1, e 6. As AECs apresentam grande heterogeneidade genotípica e fenotípica. Pode-se utilizar um algoritmo clínico para a pesquisa dos diferentes tipos de AECs. Conclusões: O exame clínico neurológico minucioso nos pacientes com AECs pode auxiliar sobremaneira na avaliação clínica destes pacientes, utilizando-se desta forma de um algoritmo, com os dados clínicos, que pode servir como um instrumento de triagem para a solicitação dos testes de genética molecular, para a correta investigação etiológica.

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“…As a general rule, there is an inverse correlation between age at onset of SCA 10 and the size of the ATTCT repeat expansion [33][34][35] .…”

Section: Spinocerebellar Ataxias Teivementioning

confidence: 99%

Section: Spinocerebellar Ataxias Teivementioning

confidence: 99%

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Spinocerebellar ataxias

Teive¹

2009

Arq. Neuro-Psiquiatr.

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“…In 2001, Rasmussen et al published a seminal study about the clinical and genetic fi ndings in 4 Mexican families with SCA type 10 5 , including the three families used in the study to identify the mutation 13 . The clinical fi ndings included, in addition to cerebellar ataxia and epilepsy (present in 72.2% of the affected members), peripheral polyneuropathy (66%), mild pyramidal signs and cognitive dysfunction in a few patients.…”

Section: The Study Group For the Hereditary Ataxias -mentioning

confidence: 99%

“…In 2000, the Houston group, in collaboration with the Los Angeles group, discovered the genetic mutation causing SCA type 10; a large pentanucleotide (ATTCT) expansion located in intron 9 of the SCA type 10 gene 13 . Their results came out from the study of the two original Mexican families and three additional Mexican families identifi ed by Astrid Rasmussen 13 .…”

Section: The Study Group For the Hereditary Ataxias -mentioning

confidence: 99%

The history of spinocerebellar ataxia type 10 in Brazil: travels of a gene

Teive

Arruda

Raskin³

et al. 2007

Arq. Neuro-Psiquiatr.

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-The authors report the history of spinocerebellar ataxia 10 (SCA10), since its first report in a large Portuguese-ancestry Family with autosomal dominant pure cerebellar ataxia, till the final identification of further families without Mexican ancestry. These families present a quite different phenotype from those SCA10 families described in Mexico.KEY WORDS: spinocerebellar ataxia, spinocerebellar ataxia type 10, "pure" cerebellar ataxia.A história da ataxia espinocerebelar tipo 10 no Brasil: as viagens de um gene RESUMO -Os autores apresentam a história da descoberta da ataxia espinocerebelar tipo 10 (AEC10) no Brasil,

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Clinical and Molecular Correlations in Spinocerebellar Ataxia Type 6

Sinke

Ippel²,

Diepstraten³

et al. 2001

Arch Neurol

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This study provides the first detailed description of Dutch patients with SCA6. Clinical analysis identifies SCA6 as a late-onset ataxia in which eye movement abnormalities are prominent and consistent early manifestations. No single clinical sign can be considered specific for SCA6. Some patients have ataxia combined with episodic headaches or nausea, suggesting an overlap among SCA6, eposidic ataxia type 2, and familial hemiplegic migraine. Spinocerebellar ataxia type 6 accounts for approximately 11% of all Dutch families with ADCA. Analysis of SCA6 contributes further to the genetic classification of patients with ADCA, including patients without a clear family history of the disease.

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Large expansion of the ATTCT pentanucleotide repeat in spinocerebellar ataxia type 10

Cited by 477 publications

References 18 publications

Spinocerebellar ataxias

Spinocerebellar ataxias

The history of spinocerebellar ataxia type 10 in Brazil: travels of a gene

Clinical and Molecular Correlations in Spinocerebellar Ataxia Type 6

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