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      Cognition in Trinucleotide Repeat Spinocerebellar Ataxias: A Review

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          Abstract

          Spinocerebellar ataxias (SCAs) comprise a group of complex and heterogeneous hereditary neurodegenerative disorders characterized by cerebellar ataxia, with ophthalmoplegia, pyramidal and extrapyramidal features, peripheral neuropathy, motor neuron disease, pigmentary retinopathy, epilepsy, and dementia in varying proportions. Cognitive impairment is not frequent in SCAs but is rarely noticed since it gets camouflaged behind the exorbitant ataxic manifestations of the disease. The exact incidence and extent of cognitive impairment in these rare disorders are not known due to the heterogeneity between different SCA types and different modalities of testing employed in different studies. Through our review, we have summarized the cognitive aspects of SCA and can safely conclude that cognitive dysfunction is common in some SCA types when compared to others. Not only is it important to appreciate its presence as a symptom complex in SCA but also is the need to actively search and treat it to improve the patients' quality of life.

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          Expansion of an unstable trinucleotide CAG repeat in spinocerebellar ataxia type 1.

          H T Orr, M Y Chung, S. Banfi … (1993)
          Spinocerebellar ataxia type 1 (SCA1) is an autosomal dominant disorder characterized by neurodegeneration of the cerebellum, spinal cord and brainstem. A 1.2-Megabase stretch of DNA from the short arm of chromosome 6 containing the SCA1 locus was isolated in a yeast artificial chromosome contig and subcloned into cosmids. A highly polymorphic CAG repeat was identified in this region and was found to be unstable and expanded in individuals with SCA1. There is a direct correlation between the size of the (CAG)n repeat expansion and the age-of-onset of SCA1, with larger alleles occurring in juvenile cases. We also show that the repeat is present in a 10 kilobase mRNA transcript. SCA1 is therefore the fifth genetic disorder to display a mutational mechanism involving an unstable trinucleotide repeat.
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            The Global Epidemiology of Hereditary Ataxia and Spastic Paraplegia: A Systematic Review of Prevalence Studies

            Luís Ruano, Cláudia Melo, M Carolina Silva … (2014)
            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 0.0-5.6/10 5 , with an average of 2.7/10 5 (1.5-4.0/10 5 ). 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 0.0-7.2/10 5 , the average being 3.3/10 5 (1.8-4.9/10 5 ). 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 5.5/10 5 and that of AR-HSP from 0.0 to 5.3/10 5 , with pooled averages of 1.8/10 5 (95% CI: 1.0-2.7/10 5 ) and 1.8/10 5 (95% CI: 1.0-2.6/10 5 ), 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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              Cloning of the gene for spinocerebellar ataxia 2 reveals a locus with high sensitivity to expanded CAG/glutamine repeats.

              G Yvert, A Brice, O Didierjean … (1996)
              Two forms of the neurodegenerative disorder spinocerebellar ataxia are known to be caused by the expansion of a CAG (polyglutamine) trinucleotide repeat. By screening cDNA expression libraries, using an antibody specific for polyglutamine repeats, we identified six novel genes containing CAG stretches. One of them is mutated in patients with spinocerebellar ataxia linked to chromosome 12q (SCA2). This gene shows ubiquitous expression and encodes a protein of unknown function. Normal SCA2 alleles (17 to 29 CAG repeats) contain one to three CAAs in the repeat. Mutated alleles (37 to 50 repeats) appear particularly unstable, upon both paternal and maternal transmissions. The sequence of three of them revealed pure CAG stretches. The steep inverse correlation between age of onset and CAG number suggests a higher sensitivity to polyglutamine length than in the other polyglutamine expansion diseases.
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                Author and article information

                Journal
                Journal ID (nlm-ta): Ann Indian Acad Neurol
                Journal ID (iso-abbrev): Ann Indian Acad Neurol
                Journal ID (publisher-id): AIAN
                Title: Annals of Indian Academy of Neurology
                Publisher: Wolters Kluwer - Medknow (India )
                ISSN (Print): 0972-2327
                ISSN (Electronic): 1998-3549
                Publication date (Print): Jul-Aug 2022
                Publication date (Electronic): 09 September 2022
                Volume: 25
                Issue: 4
                Pages: 601-605
                Affiliations
                [1]Department of Neurology, All India Institute of Medical Sciences, New Delhi, India
                [1 ]Department of NMR, All India Institute of Medical Sciences, New Delhi, India
                [2 ]Department of Genomics and Molecular Medicine, CSIR Institute of Genomics and Integrative Biology, New Delhi, India
                [3 ]Department of Neuroradiology, All India Institute of Medical Sciences, New Delhi, India
                Author notes
                Address for correspondence: Prof. Achal K. Srivastava, Room No 60, GF, CN Center, All India Institute of Medical Sciences (AIIMS), New Delhi, India. E-mail: achalsrivastava@ 123456hotmail.com
                Article
                Publisher ID: AIAN-25-601
                DOI: 10.4103/aian.aian_63_22
                PMC ID: 9540958
                SO-VID: 367bcc5a-4203-4aa6-bb1c-79320792b493
                Copyright © Copyright: © 2022 Annals of Indian Academy of Neurology
                License:

                This is an open access journal, and articles are distributed under the terms of the Creative Commons Attribution-NonCommercial-ShareAlike 4.0 License, which allows others to remix, tweak, and build upon the work non-commercially, as long as appropriate credit is given and the new creations are licensed under the identical terms.

                History
                Date received : 18 January 2022
                Date revision received : 14 February 2022
                Date accepted : 18 February 2022
                Categories
                Subject: AIAN Review

                ScienceOpen disciplines: Neurology
                Keywords: ataxia,cognition,sca
                Data availability:
                ScienceOpen disciplines: Neurology
                Keywords: ataxia, cognition, sca

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