Prevalence Rate and Functional Status of Cerebellar Ataxia in Korea

Joo, Byung Euk; Lee, Chan Nyoung; Park, Kun Woo

doi:10.1007/s12311-011-0332-8

Cited by 25 publications

(16 citation statements)

References 21 publications

(25 reference statements)

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“…In the meta-analysis of the subgroups, 9 studies were included for AD-HCA, 7 for AR-HCA, 8 for AD-HSP and 6 for AR-HSP. The reasons for exclusion were: subgroup prevalence values not ascertainable from the data [4,22,26,27,28,29]; >25% of unclassified patients (61% [30] and 57% [31]); data from populations with more recent studies [4,27]; and regional prevalence study from a country were national prevalence data were available [24]. …”

Section: Resultsmentioning

confidence: 99%

“…The rationale for this restriction is often not stated. Some studies do not clearly define the inclusion criteria used [4,21,26,29,37] (online suppl. table 1).…”

Section: Discussionmentioning

confidence: 99%

“…table 1). Some studies report a high number of unclassified patients (61% [30] and 57% [31]), an in two recent publications, the patients were not classified at all [28,29]. …”

Section: Discussionmentioning

confidence: 99%

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

et al. 2014

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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.

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Section: Resultsmentioning

confidence: 99%

“…The rationale for this restriction is often not stated. Some studies do not clearly define the inclusion criteria used [4,21,26,29,37] (online suppl. table 1).…”

Section: Discussionmentioning

confidence: 99%

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

et al. 2014

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“…Prevalence varies across populations with estimates ranging from 1 to 9 per 100,000 people [2][3][4][5]. Inheritance patterns can be autosomal dominant (AD), autosomal recessive (AR), X-linked, or maternal if part of a mitochondrial genetic syndrome [1].…”

Section: Introductionmentioning

confidence: 99%

US hereditary ataxia mutation frequencies compared to EFNS molecular testing guidelines

Wang¹,

Gómez²,

Hill³

et al. 2017

J Syst Integr Neurosci

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“…Hereditary ataxias are a group of highly heterogeneous diseases, but each usually follows a typical Mendelian dominant, recessive, or X-linked inheritance. The prevalence of hereditary ataxias varies by population and has been estimated at 1–9 per 100,000 people [ 1 , 2 , 3 , 4 ]. Many hereditary diseases also present with ataxia as one symptom of a more complex phenotype.…”

Section: Introductionmentioning

confidence: 99%

Genes and Genetic Testing in Hereditary Ataxias

Sandford

Burmeister

2014

Genes

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Ataxia is a neurological cerebellar disorder characterized by loss of coordination during muscle movements affecting walking, vision, and speech. Genetic ataxias are very heterogeneous, with causative variants reported in over 50 genes, which can be inherited in classical dominant, recessive, X-linked, or mitochondrial fashion. A common mechanism of dominant ataxias is repeat expansions, where increasing lengths of repeated DNA sequences result in non-functional proteins that accumulate in the body causing disease. Greater understanding of all ataxia genes has helped identify several different pathways, such as DNA repair, ubiquitination, and ion transport, which can be used to help further identify new genes and potential treatments. Testing for the most common mutations in these genes is now clinically routine to help with prognosis and treatment decisions, but next generation sequencing will revolutionize how genetic testing will be done. Despite the large number of known ataxia causing genes, however, many individuals with ataxia are unable to obtain a genetic diagnosis, suggesting that more genes need to be discovered. Utilization of next generation sequencing technologies, expression studies, and increased knowledge of ataxia pathways will aid in the identification of new ataxia genes.

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Prevalence Rate and Functional Status of Cerebellar Ataxia in Korea

Cited by 25 publications

References 21 publications

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

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

US hereditary ataxia mutation frequencies compared to EFNS molecular testing guidelines

Genes and Genetic Testing in Hereditary Ataxias

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