Frequency of SCA1, SCA2, SCA3/MJD, SCA6, SCA7, and DRPLA CAG Trinucleotide Repeat Expansion in Patients With Hereditary Spinocerebellar Ataxia From Chinese Kindreds

Tang, Beisha; Liu, Chun Yu; Shen, Lu; Dai, Helong; Pan, Qian; Li-juan, Jing; Ouyang, Shan; Xia, Jiahui

doi:10.1001/archneur.57.4.540

Cited by 154 publications

(124 citation statements)

References 20 publications

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“…This study showed that the subtype frequencies of SCA in Korea is different from those in neighboring populations; in Chinese Han and Japanese, SCA3 is the most common subtype and the prevalence of SCA 2 is less than 10% [4,5]. The predominance of SCA2 and SCA3 is also compatible with previous small studies in Korea [2,3].…”

Section: Discussionsupporting

confidence: 87%

SCA in Korea and its regional distribution: A multicenter analysis

Kim¹,

Jeon²,

Lee³

et al. 2011

Parkinsonism & Related Disorders

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Section: Discussionsupporting

confidence: 87%

SCA in Korea and its regional distribution: A multicenter analysis

Kim¹,

Jeon²,

Lee³

et al. 2011

Parkinsonism & Related Disorders

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“…Compared with the averaged frequency of ADCA subtypes in other districts of Japan (Table 1) (Takano et al 1998;Sasaki et al 2003), the low frequency of SCA3/MJD is characteristic of Nagano. SCA3/MJD is the most prevalent ADCA subtype in Japan (Table 1) as well as in the majority of countries (Jardim et al 2001;Tang et al 2000;Stevanin et al 1997;van de Warrenburg et al 2002;Silveira et al 1998;Soong et al 2001). This is also the case in the Niigata (43%) and Nagoya (39%) districts, which are geographically adjacent to Nagano; therefore, the low frequency of SCA3/MJD in Nagano (3%) is noteworthy.…”

Section: Discussionmentioning

confidence: 93%

“…Several studies have indicated that SCA6, SCA3/MJD, and DRPLA are the most prevalent subtypes of ADCA in Japan despite a considerable variation in the frequency of each subtype among districts . The frequency of ADCA subtypes also varies among countries (Jardim et al 2001;Tang et al 2000;Stevanin et al 1997;van de Warrenburg et al 2002;Silveira et al 1998;Soong et al 2001).…”

Section: Introductionmentioning

confidence: 99%

Regional features of autosomal-dominant cerebellar ataxia in Nagano: clinical and molecular genetic analysis of 86 families

Shimizu¹,

Yoshida

Okano³

et al. 2004

J Hum Genet

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The frequency of autosomal-dominant cerebellar ataxia (ADCA) subtypes was examined in 86 unrelated families originating from Nagano prefecture. In Nagano, the prevalence of spinocerebellar degeneration (SCD) was approximately 22 per 100,000 population. Among ADCA families, SCA6 was the most prevalent subtype (16 families, 19%), followed by DRPLA (nine families, 10%), SCA3/MJD (three families, 3%), SCA1 (two families, 2%), and SCA2 (one family, 1%). No families with SCA7, SCA12, or SCA17 were detected. Compared with other districts in Japan, the prevalence of SCA3/MJD was very low in Nagano. More interestingly, the ratio of genetically undetermined ADCA families was much higher in Nagano (55 families, 65%) than in other districts in Japan. These families tended to accumulate in geographically restricted areas such as Kiso, Saku, and Ina, indicating that the founder effect might be responsible for the high frequency of ADCA in these areas. Most patients clinically showed slowly progressive pure cerebellar ataxia of late-onset (ADCA III). In the case of 36 patients from 36 genetically undetermined ADCA III families, however, no one was completely consistent with the founder allele proposed for 16q-ADCA. These results indicate that there might be genetically distinct ADCA subtypes in Nagano.

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“…Several geographically localised studies have been conducted on the prevalence of ADCAs, with the focus on the six SCA diseases. With regards to SCA3, the prevalence is at its highest in Brazil (69% of SCA cases), Portugal (58%) and China (49%) and relatively low in USA (21%), India (3%) and Italy (1%) [77,[79][80][81][82][83]. An interesting case is the founder effect of SCA7 in South Africa, where this disease represents 26.6% of SCA diseases [84], a figure that is significantly higher than the 2% occurrence worldwide [78].…”

Section: Prevalence and Incidencementioning

confidence: 99%

“…SCA3 is the most common of the SCA disorders, and is at its highest prevalence in the Azores Islands, Portugal (~1:3472) [134]. SCA3 is widely known to be the most common of the SCA diseases, however, this does fluctuate between populations [67,69,80,84,85,135].…”

Section: Sca3mentioning

confidence: 99%

Polyglutamine ataxias: From Clinical and Molecular Features to Current Therapeutic Strategies

McIntosh¹,

Htut²,

Fletcher³

et al. 2017

J Genet Syndr Gene Ther

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Spinocerebellar ataxias are a large group of heterogeneous diseases that all involve selective neuronal degeneration and accompanied cerebellar ataxia. These diseases can be further broken down into discrete groups according to their underlying molecular genetic cause. The most common are the polyglutamine ataxias, of which there are six; Spinocerebellar ataxia type 1, 2, 3, 6, 7 and 17. These diseases are characterised by a pathological expanded cytosine-adenine-guanine (CAG) repeat sequence, in the protein coding region of a given gene. Common clinical features include lack of coordination and gait ataxia, speech and swallowing difficulties, as well as impaired hand and motor functions. The polyglutamine spinocerebellar ataxias are typically late onset diseases that are progressive in nature and often lead to premature death, for which there is currently no known cure or effective treatment strategy. Although caused by the same molecular mechanism, the causative gene and associated protein differ for each disease. The exact mechanism by which disease pathogenesis is caused remains elusive. However, the variable (CAG) n repeats are codons that may be translated to an expanded glutamine tract, leading to conformational changes in the protein, giving it a toxic gain of function. Several pathogenic pathways have been implicated in polyglutamine spinocerebellar ataxia diseases, such as the hallmark feature of neuronal nuclear inclusions, protein misfolding and aggregation, as well as transcriptional dysregulation. These pathways are attractive avenues for potential therapeutic interventions, as the potential to treat more than one disease exists. Research is ongoing, and several promising therapies are currently underway in an attempt to provide relief for this devastating class of diseases.. However, mutations can arise de novo, through errors in DNA replication such that two genetically healthy parents can give rise to an affected child.There are currently six characterised polyQ SCAs (1, 2, 3, 6, 7 and 17) (Table 1), and together with three other diseases, namely Huntington's disease, spinal and bulbar muscular atrophy and dentatorubropallidoluysian atrophy (DRPLA), form a larger category of polyQ diseases [7][8][9][10]. Th ere is little relief for individuals suffering from polyQ SCA disorders, with symptomatic treatments the only available option. Long term pharmacological treatment, although admirable, tends to fall short in an effective management strategy, as unwanted complications and low drug efficacy still exist. In addition, none of these diseases have any treatments that slow the progression of the disease; leaving affected individuals with the daunting reality that time may be a severe limiting factor. Several experimental approaches are currently being assessed to overcome these difficulties. This review will focus on the clinical and molecular features of polyQ SCA diseases (which will be referred to as SCA diseases), as well as highlight several promising and emerging therapeutic strategies...

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Frequency of SCA1, SCA2, SCA3/MJD, SCA6, SCA7, and DRPLA CAG Trinucleotide Repeat Expansion in Patients With Hereditary Spinocerebellar Ataxia From Chinese Kindreds

Cited by 154 publications

References 20 publications

SCA in Korea and its regional distribution: A multicenter analysis

SCA in Korea and its regional distribution: A multicenter analysis

Regional features of autosomal-dominant cerebellar ataxia in Nagano: clinical and molecular genetic analysis of 86 families

Polyglutamine ataxias: From Clinical and Molecular Features to Current Therapeutic Strategies

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