Analysis of trinucleotide repeats in different SCA loci in spinocerebellar ataxia patients and in normal population of Taiwan

Tsai, H.-F.; Liu, C.-S.; Leu, T.-M.; Wen, Feng Chen; Lin, Shio‐Jean; Yang, Dexin; Li, C.; Hsieh, Meng‐Hsuan

doi:10.1046/j.1600-0404.2003.00229.x

Cited by 39 publications

(19 citation statements)

References 35 publications

(81 reference statements)

Supporting

Mentioning

Contrasting

Order By: Relevance

“…1a) is consistent with a previous finding that normal individuals typically posses 22 to 32 CAG repeats [18]. This study also finds that there are significantly more alleles with expanded CAG repeats in SCA1 of oligozoospermia patients than in the control group (Fig.…”

Section: Discussionsupporting

confidence: 93%

See 1 more Smart Citation

Expansion of CAG repeats in the spinocerebellar ataxia type 1 (SCA1) gene in idiopathic oligozoospermia patients

Lai

Wang

Yang

et al. 2009

J Assist Reprod Genet

View full text Add to dashboard Cite

Purpose The lengths of CAG repeats in two spinocerebellar ataxia genes, SCA1 and SCA3, were analyzed to determine whether such repeats exist in higher numbers in infertile males. Methods Blood samples were collected from healthy controls, oligozoospermia patients, and azoospermia patients. DNA fragments containing target CAG repeats were amplified by PCR with template DNA purified from the blood samples. CAG repeats in PCR fragments were determined, using ABI PRISM 310 Gene Analyzer. Results In SCA1, the distribution of CAG repeats in oligozoospermic males was different from that of the control group: More alleles had a repeat number that exceeded 32. Conversely, for SCA3, the examined oligozoospermia and azoospermia patients exhibited no differences in distribution of CAG repeats in comparison with the control group.Conclusions SCA1 in a subset of oligozoospermia patients has an increased number of CAG repeats.

show abstract

Section: Discussionsupporting

confidence: 93%

“…This study demonstrates a similar bimodal distribution of CAG repeats in SCA3 in the control group to that of Pan et al and Tsai et al [15,18], with the two highest peaks at 14 and 26, respectively (Fig. 2a).…”

Section: Discussionsupporting

confidence: 87%

Expansion of CAG repeats in the spinocerebellar ataxia type 1 (SCA1) gene in idiopathic oligozoospermia patients

Lai

Wang

Yang

et al. 2009

J Assist Reprod Genet

View full text Add to dashboard Cite

show abstract

“…At 11.5%, the relative frequency of SCA1 in our population was near the lower end of the relative frequencies in the Indians (7-32%), 19,20,[21][22][23] but was much higher than those in the Chinese/ Japanese populations (approximately 3%). 15,17,18,25,30 SCA2, which was almost as common as SCA1 in our population, also showed a similar pattern: its relative frequency of 10.4% was much lower than that in the Indians (18-57%) 19,20,[21][22][23] while being still marginally higher than the upper range of the frequencies in the Chinese populations (4-10%). 15,17,18,25,30 These three common subtypes accounted for 41% of the cases.…”

Section: Discussionsupporting

confidence: 67%

Frequencies of spinocerebellar ataxia subtypes in Thailand: window to the population history?

et al. 2009

View full text Add to dashboard Cite

Spinocerebellar ataxias (SCAs) are a heterogeneous group of disorders with almost 30 subtypes. The prevalence and relative frequency of each subtype vary among different populations. In this article, we report the relative frequency of six SCA subtypes in the Thai population and attempt to explain the observed pattern when compared with other populations in this region. We searched for SCA type 1, SCA2, SCA3, SCA6, SCA7 and dentatorubral-pallidoluysian atrophy mutations using GeneScan analysis in 340 patients from 182 families, in which at least one person had a clinical diagnosis of SCA. We analyzed the relative frequencies of SCA subtypes on a family basis, and compared these with the data in the Chinese and Indian populations. SCA3 was found in 19.2% of the patients (Agresti-Coull 95% confidence interval: 14.1-25.6%), SCA1 in 11.5% (7.6-17.1%) and SCA2 in 10.4% (6.7-15.8%). SCA6 was found in three families, with a relative frequency of 1.6% (0.3-5.0%). Compared with the related populations, the Thai SCA3 frequency was less than that of the Chinese, whereas it was higher than that in most of the Indian studies. The reverse is true for the SCA1/SCA2 frequency. A similar study in Singapore, where there was a clear history of population admixture, also showed the frequencies between those of the Chinese and the Indian populations. Although SCA3 was the most common identifiable SCA subtype in Thailand, SCA1 and SCA2 were also relatively common. Our results also supported some degree of admixture with the Indians in the Thai population and justify further study in the area.

show abstract

“…table 2). This has also been implied by genetic centre case series from countries without prevalence studies (USA [44], China [45], France [46], Germany [47] and Taiwan [48]). SCA2 is probably the second most widespread gene worldwide, being the most frequent cause of HCA in Cantabria [18], in Holguín (Cuba) [49] and possibly in some other countries (India [50] and UK [51]).…”

Section: Discussionmentioning

confidence: 79%

The Global Epidemiology of Hereditary Ataxia and Spastic Paraplegia: A Systematic Review of Prevalence Studies

et al. 2014

View full text Add to dashboard Cite

Background: Hereditary cerebellar ataxias (HCA) and hereditary spastic paraplegias (HSP) are two groups of neurodegenerative disorders that usually present with progressive gait impairment, often leading to permanent disability. Advances in genetic research in the last decades have improved their diagnosis and brought new possibilities for prevention and future treatments. Still, there is great uncertainty regarding their global epidemiology. Summary: Our objective was to assess the global distribution and prevalence of HCA and HSP by a systematic review and meta-analysis of prevalence studies. The MEDLINE, ISI Web of Science and Scopus databases were searched (1983-2013) for studies performed in well-defined populations and geographical regions. Two independent reviewers assessed the studies and extracted data and predefined methodological parameters. Overall, 22 studies were included, reporting on 14,539 patients from 16 countries. Multisource population-based studies yielded higher prevalence values than studies based primarily on hospitals or genetic centres. The prevalence range of dominant HCA was 0.0-5.6/10⁵, with an average of 2.7/10⁵ (1.5-4.0/10⁵). Spinocerebellar ataxia type 3 (SCA3)/Machado-Joseph disease was the most common dominant ataxia, followed by SCA2 and SCA6. The autosomal recessive (AR) HCA (AR-HCA) prevalence range was 0.0-7.2/10⁵, the average being 3.3/10⁵ (1.8-4.9/10⁵). Friedreich ataxia was the most frequent AR-HCA, followed by ataxia with oculomotor apraxia or ataxia-telangiectasia. The prevalence of autosomal dominant (AD) HSP (AD-HSP) ranged from 0.5 to 5.5/10⁵ and that of AR-HSP from 0.0 to 5.3/10⁵, with pooled averages of 1.8/10⁵ (95% CI: 1.0-2.7/10⁵) and 1.8/10⁵ (95% CI: 1.0-2.6/10⁵), respectively. The most common AD-HSP form in every population was spastic paraplegia, autosomal dominant, type 4 (SPG4), followed by SPG3A, while SPG11 was the most frequent AR-HSP, followed by SPG15. In population-based studies, the number of families without genetic diagnosis after systematic testing ranged from 33 to 92% in the AD-HCA group, and was 40-46% in the AR-HCA, 45-67% in the AD-HSP and 71-82% in the AR-HSP groups. Key Messages: Highly variable prevalence values for HCA and HSP are reported across the world. This variation reflects the different genetic make-up of the populations, but also methodological heterogeneity. Large areas of the world remain without prevalence studies. From the available data, we estimated that around 1:10,000 people are affected by HCA or HSP. In spite of advances in genetic research, most families in population-based series remain without identified genetic mutation after extensive testing.

show abstract

Analysis of trinucleotide repeats in different SCA loci in spinocerebellar ataxia patients and in normal population of Taiwan

Abstract: The SCA3/MJD CAG expansion was the most frequent mutation among the SCA patients. The relative prevalence of SCA3/MJD in Taiwan was higher than that of SCA2, SCA1 and SCA7.

Cited by 39 publications

References 35 publications

Expansion of CAG repeats in the spinocerebellar ataxia type 1 (SCA1) gene in idiopathic oligozoospermia patients

Expansion of CAG repeats in the spinocerebellar ataxia type 1 (SCA1) gene in idiopathic oligozoospermia patients

Frequencies of spinocerebellar ataxia subtypes in Thailand: window to the population history?

The Global Epidemiology of Hereditary Ataxia and Spastic Paraplegia: A Systematic Review of Prevalence Studies

Contact Info

Product

Resources

About