Relative Frequencies of CAG Expansions in Spinocerebellar Ataxia and Dentatorubropallidoluysian Atrophy in 116 Italian Families

Filla, Alessandro; Mariotti, Caterina; Caruso, Giuseppe; Coppola, Giovanni; Cocozza, Sérgio; Castaldo, Imma; Calabrese, Olga; Salvatore, Elena; Michele, Giuseppe De; Riggio, M. C.; Pareyson, Davide; Gellera, Cinzia; Donato, Stefano Di

doi:10.1159/000008189

Cited by 59 publications

(51 citation statements)

References 40 publications

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“…43 In Cuba, SCA2 is relatively frequent, as is the case in Korea, Italy, and India. [44][45][46][47] SCA6 is frequently found in German and Japanese ADCA families, but is rare in Chinese and Indian families. 38,48,49 However, these relative frequency assessments do not include the (estimated) proportion of ADCA patients who are not under medical attention.…”

Section: Discussionmentioning

confidence: 99%

Spinocerebellar ataxias in the Netherlands

Warrenburg¹,

Sinke²,

Verschuuren‐Bemelmans³

et al. 2002

Neurology

238

143

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The estimated minimal prevalence of ADCA in the Netherlands is 3.0 per 100,000 inhabitants. Except for SCA6, the relationship between age at onset and CAG repeat expansion does not differ significantly between SCA-1, SCA2, SCA3, and SCA7 patient groups in our population, indicating that these SCA subtypes share similar mechanisms of polyglutamine-induced neurotoxicity, despite heterogeneity in gene products.

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Section: Discussionmentioning

confidence: 99%

Spinocerebellar ataxias in the Netherlands

Warrenburg¹,

Sinke²,

Verschuuren‐Bemelmans³

et al. 2002

Neurology

238

143

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show abstract

“…Outside Japan, the family-based frequency of SCA genotypes in ADCA has been reported from Italy (Filla et al, 2000), the Netherlands (van del Warrenburg et al, 2001), Portugal (Silveira et al, 1998), Spain (Pujana et al, 1999), France (Ste-vanin et al, 1997), the USA (Moseley et al, 1998), Australia (Storey et al, 2000), India (Saleem et al, 2000), China (Tang et al, 2000), Taiwan (Soong et al, 2001), and Brazil (Jardim et al, 2001). The frequency in each country is summarized in Table 2.…”

Section: Molecular Epidemiology Of Hereditary Scamentioning

confidence: 99%

The hereditary spinocerebellar ataxias in Japan

Sasaki

Yabe

Tashiro

2003

Cytogenet Genome Res

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In Japan, multiple system atrophy (MSA) accounts for 40% of all spinocerebellar ataxias (SCAs) and hereditary disorders account for 30%. Among the latter, autosomal dominant disorders are common and recessive ataxias are rare. Although the frequency of SCA genotypes differs between geographic regions throughout Japan, SCA6, SCA3/MJD, and DRPLA are the three major disorders, while SCA7, SCA8, SCA10, SCA12, and SCA17 are infrequent or almost undetected. SCA1 predominantly occurs in the northern part of Japan. Overall, 20–40% of dominant SCAs are due to unknown mutations. From this cluster, pure cerebellar ataxias linked with the SCA4, SCA14, and SCA16 locus have been isolated. Among the recessive SCAs, patients with AVED and EAOH have been detected. However, FRDA associated with GAA repeat expansion in the frataxin gene has not been reported so far.

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“…An abnormally expanded cytosine-adenine-guanine (CAG) triplet sequence in the coding sequence of the gene is the underlying mutation in most SCAs. Spinocerebellar ataxia type 2 (SCA2) is one of the most frequent form and the commonest in Italy [2]. The SCA2 gene has been mapped to chromosome 12q23-24 and codes for ataxin-2, a protein of unknown function [3].…”

Section: Introductionmentioning

confidence: 99%