Clinical phenotype of Brazilian families with spinocerebellar ataxia 10

Teive, Hélio A.G.; Roa, Benjamin B.; Raskin, Salmo; Fang, Ping; Arruda, Walter O.; Neto, Ylmar Correa; Gao, Rui; Werneck, Lineü Cesar; Ashizawa, Tetsuo

doi:10.1212/01.wnl.0000142109.62056.57

Cited by 93 publications

(104 citation statements)

References 9 publications

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“…SCA 3 was the most frequent form of the disease (73.5%), followed by SCA 10 (11.8%), SCA 2 (7.4%), SCA 7 (4.4%), SCA 1 (2.9%) and SCA 6 (1.5%) 16 .…”

Section: Spinocerebellar Ataxias Teivementioning

confidence: 99%

“…SCA type 3 is the most common form of the disease worldwide; types 1, 2, 6, 7 and 8 have greatly varying prevalences depending on the ethnic background of the population 1,2,[14][15][16][17][18][19] .…”

Section: Spinocerebellar Ataxias Teivementioning

confidence: 99%

“…The disease is characterized by a CAG triplet expansion that has been mapped to chromosome 14q32.12 and has from 56 to 86 repeats [1][2][3]8,16,17,25 . Neuropathological features include neuronal loss with reactive gliosis in the following structures: the substantia nigra; the dentate nucleus of the cerebellum; the red nucleus; the pontine nuclei and the nuclei of other motor cranial nerves; Clarke' s column; cells in the anterior horn of the spinal cord; and the spinocerebellar tracts.…”

Section: Sca 3 (Machado-joseph Disease)mentioning

confidence: 99%

“…It has well-defined clinical characteristics: patients present with a "pure" cerebellar syndrome, often accompanied by epilepsy and sometimes by peripheral neuropathy 16,31,32 . 8,18 .…”

Section: Sca 3 (Machado-joseph Disease)mentioning

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%

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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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“…SCA 3 was the most frequent form of the disease (73.5%), followed by SCA 10 (11.8%), SCA 2 (7.4%), SCA 7 (4.4%), SCA 1 (2.9%) and SCA 6 (1.5%) 16 .…”

Section: Spinocerebellar Ataxias Teivementioning

confidence: 99%

Section: Spinocerebellar Ataxias Teivementioning

confidence: 99%

Section: Sca 3 (Machado-joseph Disease)mentioning

confidence: 99%

“…It has well-defined clinical characteristics: patients present with a "pure" cerebellar syndrome, often accompanied by epilepsy and sometimes by peripheral neuropathy 16,31,32 . 8,18 .…”

Section: Sca 3 (Machado-joseph Disease)mentioning

confidence: 99%

Section: Spinocerebellar Ataxias Teivementioning

confidence: 99%

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Spinocerebellar ataxias

Teive¹

2009

Arq. Neuro-Psiquiatr.

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Reduced Penetrance in a Brazilian Family With Spinocerebellar Ataxia Type 10

Raskin¹,

Ashizawa²,

Teive

et al. 2007

Arch Neurol

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Two in One

Kapur

Goldman

2012

Arch Neurol

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A 54-year-old man of Mexican, American Indian, and French descent with an 11-year history of gait and limb ataxia. Main Outcome Measures: Findings of clinical examination, magnetic resonance imaging, and video electroencephalographic monitoring. Results: Neurologic history revealed a gradually progressive gait and limb ataxia along with muscle cramps and sensory symptoms in his distal extremities; examination revealed executive dysfunction, dysarthria, ataxia, and sensory neuronopathy. Episodes of loss of awareness were reported, but electroencephalograms were negative. Brain imaging demonstrated severe cerebellar and brainstem atrophy. Genetic evaluation of the case revealed mutations in both the SCA2 and SCA10 genes. Conclusion: Our patient has a unique combination of genetic mutations for 2 different SCAs, types 2 and 10, which to our knowledge, has not been previously reported. His clinical phenotype is largely consistent with SCA2, but his possible seizures and Mexican heritage suggest influences of SCA10.

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Clinical phenotype of Brazilian families with spinocerebellar ataxia 10

Cited by 93 publications

References 9 publications

Spinocerebellar ataxias

Spinocerebellar ataxias

Reduced Penetrance in a Brazilian Family With Spinocerebellar Ataxia Type 10

Two in One

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