{"id":13066,"date":"2024-08-23T05:46:42","date_gmt":"2024-08-23T03:46:42","guid":{"rendered":"https:\/\/valintermed.com\/?p=13066"},"modified":"2024-08-23T05:46:42","modified_gmt":"2024-08-23T03:46:42","slug":"spinotserebellyarnaya-ataksiya-tip-27","status":"publish","type":"post","link":"https:\/\/valintermed.com\/en\/medlibrary\/spinal-cord-injury-tip-27\/","title":{"rendered":"Spinocerebellar ataxia type 27"},"content":{"rendered":"<div class=\"fpm_start\"><\/div>\n<p>Spinocerebellar ataxia type 27 (SCA27) is a neurodegenerative disorder belonging to the group of spinocerebellar ataxias, characterized by progressive impairment of motor coordination and balance, as well as the development of atrophy of the cerebellum and other structures of the central nervous system. This disease has an autosomal dominant inheritance and is caused by mutations in the TBP (TATA-binding protein) gene, which leads to a disruption in the normal functioning of the protein involved in the regulation of gene transcription. Clinical manifestations can vary, including impairment of fine motor skills, speech production and other coordination functions, the appearance of rhetorical and vestibular disorders. The onset of the disease is often observed in young or middle age, which emphasizes the importance of early diagnosis and an effective treatment approach.<\/p>\n<div id=\"ez-toc-container\" class=\"ez-toc-v2_0_86 counter-flat ez-toc-counter ez-toc-light-blue ez-toc-container-direction\">\n<div class=\"ez-toc-title-container\">\n<p class=\"ez-toc-title\" style=\"cursor:inherit\">Content<\/p>\n<span class=\"ez-toc-title-toggle\"><a href=\"#\" class=\"ez-toc-pull-right ez-toc-btn ez-toc-btn-xs ez-toc-btn-default ez-toc-toggle\" aria-label=\"Toggle Table of Content\"><span class=\"ez-toc-js-icon-con\"><span class=\"\"><span class=\"eztoc-hide\" style=\"display:none;\">Toggle<\/span><span class=\"ez-toc-icon-toggle-span\"><svg style=\"fill: #999;color:#999\" xmlns=\"http:\/\/www.w3.org\/2000\/svg\" class=\"list-377408\" width=\"20px\" height=\"20px\" viewbox=\"0 0 24 24\" fill=\"none\"><path d=\"M6 6H4v2h2V6zm14 0H8v2h12V6zM4 11h2v2H4v-2zm16 0H8v2h12v-2zM4 16h2v2H4v-2zm16 0H8v2h12v-2z\" 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href=\"https:\/\/valintermed.com\/en\/medlibrary\/spinal-cord-injury-tip-27\/#%D0%98%D1%81%D1%82%D0%BE%D1%80%D0%B8%D1%8F_%D0%B7%D0%B0%D0%B1%D0%BE%D0%BB%D0%B5%D0%B2%D0%B0%D0%BD%D0%B8%D1%8F_%D0%B8_%D0%B8%D0%BD%D1%82%D0%B5%D1%80%D0%B5%D1%81%D0%BD%D1%8B%D0%B5_%D0%B8%D1%81%D1%82%D0%BE%D1%80%D0%B8%D1%87%D0%B5%D1%81%D0%BA%D0%B8%D0%B5_%D1%84%D0%B0%D0%BA%D1%82%D1%8B\" >History of the disease and interesting historical facts<\/a><\/li><li class='ez-toc-page-1'><a class=\"ez-toc-link ez-toc-heading-2\" href=\"https:\/\/valintermed.com\/en\/medlibrary\/spinal-cord-injury-tip-27\/#%D0%AD%D0%BF%D0%B8%D0%B4%D0%B5%D0%BC%D0%B8%D0%BE%D0%BB%D0%BE%D0%B3%D0%B8%D1%8F\" >Epidemiology<\/a><\/li><li class='ez-toc-page-1'><a class=\"ez-toc-link ez-toc-heading-3\" href=\"https:\/\/valintermed.com\/en\/medlibrary\/spinal-cord-injury-tip-27\/#%D0%93%D0%B5%D0%BD%D0%B5%D1%82%D0%B8%D1%87%D0%B5%D1%81%D0%BA%D0%B0%D1%8F_%D0%BF%D1%80%D0%B5%D0%B4%D1%80%D0%B0%D1%81%D0%BF%D0%BE%D0%BB%D0%BE%D0%B6%D0%B5%D0%BD%D0%BD%D0%BE%D1%81%D1%82%D1%8C_%D0%BA_%D0%B4%D0%B0%D0%BD%D0%BD%D0%BE%D0%BC%D1%83_%D0%B7%D0%B0%D0%B1%D0%BE%D0%BB%D0%B5%D0%B2%D0%B0%D0%BD%D0%B8%D1%8E\" >Genetic predisposition to this disease<\/a><\/li><li class='ez-toc-page-1'><a class=\"ez-toc-link ez-toc-heading-4\" href=\"https:\/\/valintermed.com\/en\/medlibrary\/spinal-cord-injury-tip-27\/#%D0%A4%D0%B0%D0%BA%D1%82%D0%BE%D1%80%D1%8B_%D1%80%D0%B8%D1%81%D0%BA%D0%B0_%D0%B2%D0%BE%D0%B7%D0%BD%D0%B8%D0%BA%D0%BD%D0%BE%D0%B2%D0%B5%D0%BD%D0%B8%D1%8F_%D0%B4%D0%B0%D0%BD%D0%BD%D0%BE%D0%B3%D0%BE_%D0%B7%D0%B0%D0%B1%D0%BE%D0%BB%D0%B5%D0%B2%D0%B0%D0%BD%D0%B8%D1%8F\" >Risk factors for the development of this disease<\/a><\/li><li class='ez-toc-page-1'><a class=\"ez-toc-link ez-toc-heading-5\" href=\"https:\/\/valintermed.com\/en\/medlibrary\/spinal-cord-injury-tip-27\/#%D0%94%D0%B8%D0%B0%D0%B3%D0%BD%D0%BE%D1%81%D1%82%D0%B8%D0%BA%D0%B0_%D0%B4%D0%B0%D0%BD%D0%BD%D0%BE%D0%B3%D0%BE_%D0%B7%D0%B0%D0%B1%D0%BE%D0%BB%D0%B5%D0%B2%D0%B0%D0%BD%D0%B8%D1%8F\" >Diagnosis of this disease<\/a><\/li><li class='ez-toc-page-1'><a class=\"ez-toc-link ez-toc-heading-6\" href=\"https:\/\/valintermed.com\/en\/medlibrary\/spinal-cord-injury-tip-27\/#%D0%9B%D0%B5%D1%87%D0%B5%D0%BD%D0%B8%D0%B5\" >Treatment<\/a><\/li><li class='ez-toc-page-1'><a class=\"ez-toc-link ez-toc-heading-7\" href=\"https:\/\/valintermed.com\/en\/medlibrary\/spinal-cord-injury-tip-27\/#%D0%A1%D0%BF%D0%B8%D1%81%D0%BE%D0%BA_%D0%BB%D0%B5%D0%BA%D0%B0%D1%80%D1%81%D1%82%D0%B2_%D0%BF%D1%80%D0%B8%D0%BC%D0%B5%D0%BD%D1%8F%D0%B5%D0%BC%D1%8B%D1%85_%D0%B4%D0%BB%D1%8F_%D0%BB%D0%B5%D1%87%D0%B5%D0%BD%D0%B8%D1%8F_%D0%B4%D0%B0%D0%BD%D0%BD%D0%BE%D0%B3%D0%BE_%D0%B7%D0%B0%D0%B1%D0%BE%D0%BB%D0%B5%D0%B2%D0%B0%D0%BD%D0%B8%D1%8F\" >List of drugs used to treat this disease<\/a><\/li><li class='ez-toc-page-1'><a class=\"ez-toc-link ez-toc-heading-8\" href=\"https:\/\/valintermed.com\/en\/medlibrary\/spinal-cord-injury-tip-27\/#%D0%9C%D0%BE%D0%BD%D0%B8%D1%82%D0%BE%D1%80%D0%B8%D0%BD%D0%B3_%D0%B7%D0%B0%D0%B1%D0%BE%D0%BB%D0%B5%D0%B2%D0%B0%D0%BD%D0%B8%D1%8F\" >Disease monitoring<\/a><\/li><li class='ez-toc-page-1'><a class=\"ez-toc-link ez-toc-heading-9\" href=\"https:\/\/valintermed.com\/en\/medlibrary\/spinal-cord-injury-tip-27\/#%D0%92%D0%BE%D0%B7%D1%80%D0%B0%D1%81%D1%82%D0%BD%D1%8B%D0%B5_%D0%BE%D1%81%D0%BE%D0%B1%D0%B5%D0%BD%D0%BD%D0%BE%D1%81%D1%82%D0%B8_%D0%B7%D0%B0%D0%B1%D0%BE%D0%BB%D0%B5%D0%B2%D0%B0%D0%BD%D0%B8%D1%8F\" >Age-related features of the disease<\/a><\/li><li class='ez-toc-page-1'><a class=\"ez-toc-link ez-toc-heading-10\" href=\"https:\/\/valintermed.com\/en\/medlibrary\/spinal-cord-injury-tip-27\/#%D0%92%D0%BE%D0%BF%D1%80%D0%BE%D1%81%D1%8B_%D0%B8_%D0%BE%D1%82%D0%B2%D0%B5%D1%82%D1%8B\" >Questions and Answers<\/a><\/li><\/ul><\/nav><\/div>\n<h2><span class=\"ez-toc-section\" id=\"%D0%98%D1%81%D1%82%D0%BE%D1%80%D0%B8%D1%8F_%D0%B7%D0%B0%D0%B1%D0%BE%D0%BB%D0%B5%D0%B2%D0%B0%D0%BD%D0%B8%D1%8F_%D0%B8_%D0%B8%D0%BD%D1%82%D0%B5%D1%80%D0%B5%D1%81%D0%BD%D1%8B%D0%B5_%D0%B8%D1%81%D1%82%D0%BE%D1%80%D0%B8%D1%87%D0%B5%D1%81%D0%BA%D0%B8%D0%B5_%D1%84%D0%B0%D0%BA%D1%82%D1%8B\"><\/span>History of the disease and interesting historical facts<span class=\"ez-toc-section-end\"><\/span><\/h2>\n<p>The first description of spinocerebellar ataxias was made in the late 19th century, but type 27 was identified much later, in the early 21st century. In 2003, scientists established the genetic nature of SCA27, associating it with mutations in the TBP gene. Interestingly, in the process of studying this disease, many other types of spinocerebellar ataxias were found, which led to a deep understanding of the clinical and molecular mechanisms of these disorders. An important step in the history of SCA27 was the understanding of the role of the TBP protein in normal cell function and its regulation of the transcription process, which opens up prospects for further research and targeted therapy.<\/p>\n<h2><span class=\"ez-toc-section\" id=\"%D0%AD%D0%BF%D0%B8%D0%B4%D0%B5%D0%BC%D0%B8%D0%BE%D0%BB%D0%BE%D0%B3%D0%B8%D1%8F\"><\/span>Epidemiology<span class=\"ez-toc-section-end\"><\/span><\/h2>\n<p>The prevalence of spinocerebellar ataxia type 27 varies across populations. However, based on research studies covering several large cohorts, SCA27 is relatively rare, estimated at 0.4-2 cases per 100,000 people. This rarity makes it difficult to obtain complete statistics and may be influenced by ethnicity, as cases of SCA27 are more common in some populations. There are differences in incidence between men and women, but overall, a gender predisposition to this pathology is not established.<\/p>\n<h2><span class=\"ez-toc-section\" id=\"%D0%93%D0%B5%D0%BD%D0%B5%D1%82%D0%B8%D1%87%D0%B5%D1%81%D0%BA%D0%B0%D1%8F_%D0%BF%D1%80%D0%B5%D0%B4%D1%80%D0%B0%D1%81%D0%BF%D0%BE%D0%BB%D0%BE%D0%B6%D0%B5%D0%BD%D0%BD%D0%BE%D1%81%D1%82%D1%8C_%D0%BA_%D0%B4%D0%B0%D0%BD%D0%BD%D0%BE%D0%BC%D1%83_%D0%B7%D0%B0%D0%B1%D0%BE%D0%BB%D0%B5%D0%B2%D0%B0%D0%BD%D0%B8%D1%8E\"><\/span>Genetic predisposition to this disease<span class=\"ez-toc-section-end\"><\/span><\/h2>\n<p>The disease is caused by mutations in the TBP gene, located on chromosome 6, which is responsible for binding to TATA boxes in the promoters of many genes, thereby initiating transcription. The most common mutation associated with SCA27 is the expansion of a polyglutamine repeat in this gene, which leads to disruption of the protein\u2019s functionality and cell death in neurons. Understanding the genetic predisposition to SCA27 is key to diagnosis and the development of genetic testing for affected families.<\/p>\n<h2><span class=\"ez-toc-section\" id=\"%D0%A4%D0%B0%D0%BA%D1%82%D0%BE%D1%80%D1%8B_%D1%80%D0%B8%D1%81%D0%BA%D0%B0_%D0%B2%D0%BE%D0%B7%D0%BD%D0%B8%D0%BA%D0%BD%D0%BE%D0%B2%D0%B5%D0%BD%D0%B8%D1%8F_%D0%B4%D0%B0%D0%BD%D0%BD%D0%BE%D0%B3%D0%BE_%D0%B7%D0%B0%D0%B1%D0%BE%D0%BB%D0%B5%D0%B2%D0%B0%D0%BD%D0%B8%D1%8F\"><\/span>Risk factors for the development of this disease<span class=\"ez-toc-section-end\"><\/span><\/h2>\n<p>Although the main risk factor for SCA27 is heredity, certain environmental and lifestyle changes can also contribute to an accelerated onset of symptoms. Physical risk factors include:<\/p>\n<ul>\n<li>Head injuries.<\/li>\n<li>Infectious diseases of the central nervous system.<\/li>\n<li>Chronic stress and emotional stress.<\/li>\n<\/ul>\n<p>Chemical risk factors may include:<\/p>\n<ul>\n<li>Exposure to toxic substances.<\/li>\n<li>Alcohol addiction.<\/li>\n<li>Long-term use of certain medications.<\/li>\n<\/ul>\n<p>In addition, colleagues from the scientific literature emphasize that the influence of lifestyle and dietary factors may be important in the development and progression of this disease.<\/p>\n<h2><span class=\"ez-toc-section\" id=\"%D0%94%D0%B8%D0%B0%D0%B3%D0%BD%D0%BE%D1%81%D1%82%D0%B8%D0%BA%D0%B0_%D0%B4%D0%B0%D0%BD%D0%BD%D0%BE%D0%B3%D0%BE_%D0%B7%D0%B0%D0%B1%D0%BE%D0%BB%D0%B5%D0%B2%D0%B0%D0%BD%D0%B8%D1%8F\"><\/span>Diagnosis of this disease<span class=\"ez-toc-section-end\"><\/span><\/h2>\n<p>Diagnosis of SCA27 involves extensive clinical examination, medical history and various research methods. The main symptoms are:<\/p>\n<ul>\n<li>Unsteadiness when walking.<\/li>\n<li>Impaired coordination of movements.<\/li>\n<li>Dysarthria (speech disorder).<\/li>\n<li>Moving movements with the handle.<\/li>\n<\/ul>\n<p>To confirm the diagnosis, various laboratory tests and tissue samples are performed to detect mutations in the TBP gene. Radiological techniques such as magnetic resonance imaging (MRI) are important to visualize cerebellar atrophy and other changes in the brain. Differential diagnosis may include other types of ataxia and neurodegenerative diseases such as Huntington&#039;s disease and spinal cord atrophy.<\/p><script data-noptimize=\"\" data-wpfc-render=\"false\">\nfpm_start( \"true\" );\n<\/script>\n\n<h2><span class=\"ez-toc-section\" id=\"%D0%9B%D0%B5%D1%87%D0%B5%D0%BD%D0%B8%D0%B5\"><\/span>Treatment<span class=\"ez-toc-section-end\"><\/span><\/h2>\n<p>There is currently no specific treatment for SCA27. Symptomatic therapy is the main approach to improve patients&#039; quality of life. General treatment may include:<\/p>\n<ul>\n<li>Physiotherapy to improve coordination of movements.<\/li>\n<li>Psychotherapy and support for the patient&#039;s emotional state.<\/li>\n<li>Educational programs to improve daily activity.<\/li>\n<\/ul>\n<p>Pharmacological treatment may include the following groups of drugs:<\/p>\n<ul>\n<li>Antidepressants to manage psychological manifestations.<\/li>\n<li>Neurotropic agents to improve neurological symptoms.<\/li>\n<\/ul>\n<p>In some cases, surgery may be recommended, for example to correct vestibular dysfunction or polyneuropathy, but these are extremely rare.<\/p>\n<h2><span class=\"ez-toc-section\" id=\"%D0%A1%D0%BF%D0%B8%D1%81%D0%BE%D0%BA_%D0%BB%D0%B5%D0%BA%D0%B0%D1%80%D1%81%D1%82%D0%B2_%D0%BF%D1%80%D0%B8%D0%BC%D0%B5%D0%BD%D1%8F%D0%B5%D0%BC%D1%8B%D1%85_%D0%B4%D0%BB%D1%8F_%D0%BB%D0%B5%D1%87%D0%B5%D0%BD%D0%B8%D1%8F_%D0%B4%D0%B0%D0%BD%D0%BD%D0%BE%D0%B3%D0%BE_%D0%B7%D0%B0%D0%B1%D0%BE%D0%BB%D0%B5%D0%B2%D0%B0%D0%BD%D0%B8%D1%8F\"><\/span>List of drugs used to treat this disease<span class=\"ez-toc-section-end\"><\/span><\/h2>\n<p>Although there are no specific drugs for SCA27, medications that work on the symptoms are used. These include:<\/p>\n<ul>\n<li>Sertraline (antidepressant).<\/li>\n<li>Doxepin (for managing insomnia and anxiety).<\/li>\n<li>Gabapentin (pain reliever for neuralgia).<\/li>\n<\/ul>\n<p>These drugs help control the patient&#039;s emotional and physical state.<\/p>\n<h2><span class=\"ez-toc-section\" id=\"%D0%9C%D0%BE%D0%BD%D0%B8%D1%82%D0%BE%D1%80%D0%B8%D0%BD%D0%B3_%D0%B7%D0%B0%D0%B1%D0%BE%D0%BB%D0%B5%D0%B2%D0%B0%D0%BD%D0%B8%D1%8F\"><\/span>Disease monitoring<span class=\"ez-toc-section-end\"><\/span><\/h2>\n<p>The key to monitoring SCA27 is regular neurological examinations and periodic MRI to assess disease progression. Prognosis can vary, but most cases progress slowly. Complications can occur in the form of secondary diseases associated with loss of function, such as pneumonia or blood clots.<\/p>\n<h2><span class=\"ez-toc-section\" id=\"%D0%92%D0%BE%D0%B7%D1%80%D0%B0%D1%81%D1%82%D0%BD%D1%8B%D0%B5_%D0%BE%D1%81%D0%BE%D0%B1%D0%B5%D0%BD%D0%BD%D0%BE%D1%81%D1%82%D0%B8_%D0%B7%D0%B0%D0%B1%D0%BE%D0%BB%D0%B5%D0%B2%D0%B0%D0%BD%D0%B8%D1%8F\"><\/span>Age-related features of the disease<span class=\"ez-toc-section-end\"><\/span><\/h2>\n<p>SCA27 symptoms may manifest in different age groups. In childhood and adolescence, the disease most often has milder forms and slow progression. In middle age (30-50 years), the most pronounced clinical symptoms are observed, requiring active intervention. In elderly patients, SCA27 may be accompanied by concomitant neurodegenerative diseases, which requires a comprehensive approach to treatment.<\/p>\n<h2><span class=\"ez-toc-section\" id=\"%D0%92%D0%BE%D0%BF%D1%80%D0%BE%D1%81%D1%8B_%D0%B8_%D0%BE%D1%82%D0%B2%D0%B5%D1%82%D1%8B\"><\/span>Questions and Answers<span class=\"ez-toc-section-end\"><\/span><\/h2>\n<ul>\n<li><strong>What are the main symptoms of spinocerebellar ataxia type 27?<\/strong> The main symptoms are unsteadiness when walking, impaired coordination of movements, dysarthria and difficulty performing fine motor skills.<\/li>\n<li><strong>Can SCA27 be prevented?<\/strong> Because the disease is linked to genetic mutations, prevention involves monitoring and treating symptoms, not preventing the disease itself.<\/li>\n<li><strong>What is the prognosis for patients with SCA27?<\/strong> The prognosis varies, but the disease is characterized by slow progression and many patients maintain a level of independence in daily life for a long time.<\/li>\n<li><strong>What diagnostic methods are used to detect SCA27?<\/strong> The main methods are clinical examinations, genetic testing for mutations in the TBP gene, and imaging studies such as MRI.<\/li>\n<li><strong>Are there effective treatments for SCA27?<\/strong> There is no specific treatment, but symptomatic therapy, including physical therapy and medication, can significantly improve patients&#039; quality of life.<\/li>\n<\/ul>\n<div class=\"fpm_end\"><\/div>","protected":false},"excerpt":{"rendered":"<p>Spinocerebellar ataxia type 27 (SCA27) is a neurodegenerative disorder belonging to the group of spinocerebellar ataxias, characterized by progressive impairment of motor coordination and<\/p>","protected":false},"author":1,"featured_media":0,"comment_status":"open","ping_status":"","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[298],"tags":[],"class_list":["post-13066","post","type-post","status-publish","format-standard","hentry","category-medlibrary"],"_links":{"self":[{"href":"https:\/\/valintermed.com\/en\/wp-json\/wp\/v2\/posts\/13066","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/valintermed.com\/en\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/valintermed.com\/en\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/valintermed.com\/en\/wp-json\/wp\/v2\/users\/1"}],"replies":[{"embeddable":true,"href":"https:\/\/valintermed.com\/en\/wp-json\/wp\/v2\/comments?post=13066"}],"version-history":[{"count":1,"href":"https:\/\/valintermed.com\/en\/wp-json\/wp\/v2\/posts\/13066\/revisions"}],"predecessor-version":[{"id":13854,"href":"https:\/\/valintermed.com\/en\/wp-json\/wp\/v2\/posts\/13066\/revisions\/13854"}],"wp:attachment":[{"href":"https:\/\/valintermed.com\/en\/wp-json\/wp\/v2\/media?parent=13066"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/valintermed.com\/en\/wp-json\/wp\/v2\/categories?post=13066"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/valintermed.com\/en\/wp-json\/wp\/v2\/tags?post=13066"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}