A New Form of Heredo-Familial Spinocerebellar Degeneration With Slow Eye Movements (Nine Families)

Wadia, N. H.; Swami, R. K.

doi:10.1093/brain/94.2.359

Cited by 153 publications

(70 citation statements)

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“…Normal genetic polymorphism according to CAG repeat length (13)(14)(15)(16)(17)(18)(19)(20)(21)(22)(23)(24)(25)(26)(27)(28)(29)(30)(31) The normal CAG repeat size from 2695 (K-S, Po0.01) chromosomes of the Cuban NM population shows a modal distribution (Figure 1a) (mode and median¼22 CAG), with 22 28 The range of the CAG is distributed continuously from 13 to 31 CAG and encompasses almost all the expected allelic classes in this numeric series (17 observed/18 expected) -with a kurtosis of 11.66 and a variance of 3.04 vs 1.21 for other populations worldwide. 27 The allele with 13 CAG repeats is exclusively found in the Cuban population and that with 26 CAG in both Cuban and Czech populations.…”

Section: Resultsmentioning

confidence: 99%

“…17 Later, some authors suggested that it is biased to only use CAG length as a marker for determining the propensity of certain alleles to be predisposed or prone to undergo expansion reaching the pathological range. 18 This argument is also supported by the fact that in East India, where SCA2 prevalence is high, [19][20][21] large ANs are spared and clustered to limited ethnic groups. 22 Therefore, the role of large ANs as a possible source of SCA2 expansion and the mechanism by which this might happen is poorly understood.…”

Section: Spinocerebellar Ataxia Type 2 (Sca2) Is a Neurodegenerative mentioning

confidence: 89%

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Unexpanded and intermediate CAG polymorphisms at the SCA2 locus (ATXN2) in the Cuban population: evidence about the origin of expanded SCA2 alleles

Laffita-Mesa¹,

Velázquez‐Pérez²,

Falcón³

et al. 2011

Eur J Hum Genet

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The role of short, large or intermediate normal alleles (ANs) of the ataxin-2 gene in generating expanded alleles (EAs) causing spinocerebellar ataxia type 2 (SCA2) is poorly understood. It has been postulated that SCA2 prevalence is related to the frequency of large ANs. SCA2 shows the highest worldwide prevalence in Cuban population, which is therefore a unique source for studying the relationship between the frequency of large and intermediate alleles and the frequency of SCA2 mutation. Through genetic polymorphism analyses in a comprehensive sample (B3000 chromosomes), we show that the frequency of large ANs in the ataxin-2 gene is the highest worldwide, although short ANs are also frequent. This highly polymorphic population displayed also high variability in the CAG sequence, featured by loss of the anchor CAA interruption(s). In addition, large ANs showed germinal and somatic instability. Our study also includes related genotypic, genealogical and haplotypic data and provides substantial evidence with regard to the role of large and intermediate alleles in the generation of pathological EAs.

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Section: Resultsmentioning

confidence: 99%

Section: Spinocerebellar Ataxia Type 2 (Sca2) Is a Neurodegenerative mentioning

confidence: 89%

Unexpanded and intermediate CAG polymorphisms at the SCA2 locus (ATXN2) in the Cuban population: evidence about the origin of expanded SCA2 alleles

Laffita-Mesa¹,

Velázquez‐Pérez²,

Falcón³

et al. 2011

Eur J Hum Genet

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“…The first description of SCA 2 was by Wadia and Swami, in India in 1971, and the disease was later the subject of considerable study by Orozco in Cuba (Holguín) in 1990 41,42 . Salem et al, using molecular analysis, studied 42 Indian families with SCA and concluded that SCA 2 was the most common form.…”

Section: Scamentioning

confidence: 99%

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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“…This work was carried out at a time when not only had the advanced genetics techniques available to us today not been developed, but also there was not even an adequate system for classifying the various entities that were being discovered. The most important contribution by Prof. Wadia was the identification, for the first time, of spinocerebellar ataxia with slow eye movements, nowadays defined as SCA 2 [4][5][6][7] .…”

Section: Wadia's Contributions To Neurologymentioning

confidence: 99%

“…In 1989, Orozco et al published an outstanding paper on SCA 2 in which they described its clinical, neuropathological and biochemical features 3 . However, this disorder had already been described in detail in India in 1971 by Wadia and Swami, who emphasized the presence of cerebellar ataxia, and slow eye movements in particular 4 . Here, we review this very important contribution by Prof. Wadia, of the first clinical description of SCA 2.…”

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confidence: 98%