Spinocerebellar ataxia type 3: subphenotypes in a cohort of brazilian patients

Moro, Adriana; Munhoz, Renato P.; Arruda, Walter O.; Raskin, Salmo; Moscovich, Mariana; Teive, Hélio A. Ghizoni

doi:10.1590/0004-282x20140129

Cited by 32 publications

(23 citation statements)

References 22 publications

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“…Although the clinical and genotypic markers of these disorders were, for the most part, consistent with what was described elsewhere in the world, 1 striking exception was the fact that seizures were actually part of the phenotype among the SCA10 families, similar to what was described among Mexican cases . Finally, in a large sample of 167 SCA3 patients belonging to 68 pedigrees, Moro and colleagues studied the frequencies of SCA3 subphenotypes. Subphenotype 2 was the most common, with ataxia and pyramidal findings (67.5%), followed by subphenotype 3 with ataxia and peripheral signs (13.3%), and subphenotype 6 with pure cerebellar syndrome in 7.2% .…”

Section: Resultssupporting

confidence: 56%

“…In theory, the presence of different lineages or the occurrence of SCA3 clusters in specific geographic areas could lead to different proportions of SCA3 subphenotypes or a more random presence of phenotypic variability in certain areas of the globe. Although the distribution of subphenotypes has not been consistently compared between different SCA3 populations, a cursory look at the most important studies of larger SCA3 samples does not reveal any major discrepancy, except for the proportionately higher frequency of subphenotype III among Cubans described in 1 study . Other phenotypic variables, however, may present with different frequencies in different populations.…”

Section: Discussionmentioning

confidence: 70%

“…Finally, in a large sample of 167 SCA3 patients belonging to 68 pedigrees, Moro and colleagues studied the frequencies of SCA3 subphenotypes. Subphenotype 2 was the most common, with ataxia and pyramidal findings (67.5%), followed by subphenotype 3 with ataxia and peripheral signs (13.3%), and subphenotype 6 with pure cerebellar syndrome in 7.2% . Only 1 family with DRPLA has been reported in Brazil, among 487 patients with autosomal dominant ataxias (0.2%) .…”

Section: Resultsmentioning

confidence: 99%

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The Geographic Diversity of Spinocerebellar Ataxias (SCAs) in the Americas: A Systematic Review

Teive

Meira

Camargo

et al. 2019

Movement Disord Clin Pract

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Background The frequency and presentation of each of the most common forms of spinocerebellar ataxias (SCAs) varies widely. In the case of the Americas, this diversity is particularly dynamic given additional social, demographic, and cultural characteristics. Objective To describe the regional prevalence and clinical phenotypes of SCAs throughout the continent. Methods A literature search was performed in both MEDLINE and LILACS databases. The research was broadened to include the screening of reference lists of systematic review articles for additional studies. Investigations dating from the earliest available through 2019. Only studies in English, Portuguese, and Spanish were included. We analyzed publications with genetically confirmed cases only, ranging from robust samples with epidemiological data to case reports and case series from each country or regions. Results Overall, SCA3 is the most common form in the continent. Region‐specific prevalence and ranking of the common forms vary. On the other hand, region‐specific phenotypic variations were not consistently found based on the available literature analyzed, with the exception of the absence of epilepsy in SCA10 consistently described in a particular cluster of cases in South Brazil. Conclusion Systematic, multinational studies analyzing in detail the true frequencies of SCAs across the Americas as well as distinct clinical signs and clues of each form would be ideal to look for these potential variations.

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Section: Resultssupporting

confidence: 56%

Section: Discussionmentioning

confidence: 70%

Section: Resultsmentioning

confidence: 99%

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The Geographic Diversity of Spinocerebellar Ataxias (SCAs) in the Americas: A Systematic Review

Teive

Meira

Camargo

et al. 2019

Movement Disord Clin Pract

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“…Parkinsonism is often seen in SCA2 (SCA2-P). Compared with cerebellar ataxia type (SCA2-A), the SCA2 is associated with a mild CAG repeat expansion (32)(33)(34)(35)(36)(37)(38)(39)(40)(41)(42) usually interrupted by a CAA repeat (47). The SCA2-A harbored a CAG expansion without CAA interruption (48,49).…”

Section: Adca Typementioning

confidence: 99%

Spinocerebellar ataxia: relationship between phenotype and genotype – a review

2016

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Spinocerebellar ataxia (SCA) comprises a large group of heterogeneous neurodegenerative disorders inherited in an autosomal dominant fashion. It is characterized by progressive cerebellar ataxia with oculomotor dysfunction, dysarthria, pyramidal signs, extrapyramidal signs, pigmentary retinopathy, peripheral neuropathy, cognitive impairment and other symptoms. It is classified according to the clinical manifestations or genetic nosology. To date, 40 SCAs have been characterized, and include SCA1-40. The pathogenic genes of 28 SCAs were identified. In recent years, with the widespread clinical use of next-generation sequencing, the genes underlying SCAs, and the mutants as well as the affected phenotypes were identified. These advances elucidated the phenotype-genotype relationship in SCAs. We reviewed the recent clinical advances, genetic features and phenotype-genotype correlations involving each SCA and its differentiation. The heterogeneity of the disease and the genetic diagnosis might be attributed to the regional distribution and clinical characteristics. Therefore, recognition of the phenotype-genotype relationship facilitates genetic testing, prognosis and monitoring of symptoms.

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“…SCA3 has been classified into several subgroups previously [23] . Our patients fell into three subgroups of levodopa responsive Parkinsonism, ataxia combined with pyramidal signs and peripheral neuropathy.…”

Section: Patients Presenting With Parkinsonismmentioning

confidence: 99%

The dynamic mutation investigation and whole exome sequencing in a cohort of Chinese autosomal dominant cerebellar ataxia patients

Peng¹,

Zhang²,

Zhou³

et al. 2020

Preprint

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Background Spinocerebellar ataxias (SCAs) are the autosomal dominant cerebellar ataxia (ADCA) with great clinical and genetic heterogeneity. Genetic testing will contribute to the final diagnosis. Methods A total of 204 Chinese ADCA patients were recruited and 190 had genetic testing. Dynamic mutations of SCA1,2,3,6,7,8,10,12,17 and dentatorubral-pallidoluysian atrophy (DRPLA) were screened firstly. For the patients with negative results, the dynamic mutations of HTT of Huntington Disease (HD), SCA31, 36 and even the whole exome sequencing (WES) were further performed. We investigated the genetic results and clinical characteristics retrospectively.Results Among these 190 index cases, 177(93.16%) were identified SCA dynamic mutations. SCA3 was the commonest, accounting for 70.06%, followed by SCA1 (9.6%), 2 (9.05%), 12 (3.39%), 6 (2.26%), DRPLA (2.26%), 7(1.13%), 8 (1.13%) and 17(0.56%). One patient carried a compound dynamic mutation of SCA6 and SCA17 (SCA6/17). No SCA10 or SCA36 was found. Among the remaining 13 patients, three were diagnosed with HD (1.58%) and one with Episodic Ataxia 2 (EA2).WES did reveal several variants with uncertain significance (VUS) in the remaining nine patients, but failed to detect causative mutations. ConclusionWe illustrated the approach and challenge of genetic testing in Chinese ADCA patients.Dynamic mutations of SCAs should be screened firstly. When the results were negative, dynamic mutation of HTT would better be screened consequently. In early-onset ADCA patients, WES might be effective to identify causative mutations, but in adult-onset cases, WES might be less effective.

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Spinocerebellar ataxia type 3: subphenotypes in a cohort of brazilian patients

Cited by 32 publications

References 22 publications

The Geographic Diversity of Spinocerebellar Ataxias (SCAs) in the Americas: A Systematic Review

The Geographic Diversity of Spinocerebellar Ataxias (SCAs) in the Americas: A Systematic Review

Spinocerebellar ataxia: relationship between phenotype and genotype – a review

The dynamic mutation investigation and whole exome sequencing in a cohort of Chinese autosomal dominant cerebellar ataxia patients

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