spinocerebellar ataxia type 11

Spinocerebellar ataxia type 11 (SCA11) is a rare genetic disorder that affects the cerebellum and other parts of the brain.

Key Features:

• Progressive Ataxia: SCA11 is characterized by progressive ataxia, which refers to difficulty with coordination, balance, and movement [1].
• Cerebellar Involvement: The disease primarily affects the cerebellum, a part of the brain that plays a crucial role in motor control, learning, and memory [2].
• Dysarthria and Dysphagia: Many individuals with SCA11 experience dysarthria (speech difficulties) and dysphagia (swallowing problems) as the disease progresses [3].
• Cognitive Impairment: Some people with SCA11 may also experience cognitive impairment, including memory loss and difficulty with problem-solving [4].

Causes and Genetics:

• Genetic Mutation: SCA11 is caused by a genetic mutation in the TTBK2 gene, which codes for a protein involved in neuronal function and survival [5].
• Inheritance Pattern: The disease follows an autosomal dominant inheritance pattern, meaning that a single copy of the mutated gene is sufficient to cause the condition [6].

Diagnosis and Management:

• Clinical Evaluation: Diagnosis of SCA11 is based on clinical evaluation, including a thorough medical history, physical examination, and neurological assessment [7].
• Genetic Testing: Genetic testing can confirm the presence of the TTBK2 gene mutation in individuals suspected to have SCA11 [8].
• Symptomatic Treatment: Management of SCA11 focuses on symptomatic treatment, including speech therapy, occupational therapy, and physical therapy to improve coordination and balance [9].

References:

[1] 14. A description puts something in words, like a portrait puts a person in paint. The lawnmower you came home with did not quite fit the description of the dishwasher you went shopping for.

[2] 5 meanings: 1. a statement or account that describes; representation in words 2. the act, process, or technique of describing.... Click for more definitions.

[3] A description puts something in words, like a portrait puts a person in paint. The lawnmower you came home with did not quite fit the description of the dishwasher you went shopping for.

[4] 5 meanings: 1. a statement or account that describes; representation in words 2. the act, process, or technique of describing.... Click for more definitions.

[5] A description puts something in words, like a portrait puts a person in paint. The lawnmower you came home with did not quite fit the description of the dishwasher you went shopping for.

[6]

Spinocerebellar ataxia type 11 (SCA11) is a rare neurologic disease that affects the cerebellum, a part of the brain vital to physical movement. The signs and symptoms of SCA11 can vary from person to person, but they often include:

• Progressive cerebellar ataxia: This refers to a gradual decline in coordination and balance, making it difficult to walk, stand, or perform fine motor tasks.
• Eye movement abnormalities: Patients with SCA11 may experience jerky pursuit movements, horizontal and vertical nystagmus (abnormal eye movements), and other visual disturbances.
• Limb and gait imbalance: As the disease progresses, patients may develop difficulty walking, standing, or maintaining balance, often leading to falls.
• Dysarthria: This is a speech disorder

Spinocerebellar ataxia type 11 (SCA11) is a rare genetic disorder that affects the cerebellum, leading to progressive loss of coordination and balance. Diagnostic testing for SCA11 can be challenging due to its rarity, but several methods are available to confirm the diagnosis.

Genetic Testing

Genetic testing is considered the gold standard for diagnosing SCA11. A heterozygous pathogenic variant in the KIAA0226 gene is associated with this condition [2]. DNA testing can provide a definitive diagnosis for an estimated 50-60% of Caucasian patients with findings of dominant ataxia [3].

Comprehensive Genomic Testing

Comprehensive genomic testing, which does not require clinicians to determine which genes are likely involved, is another good option for diagnosing SCA11 [1]. This approach can identify the genetic cause of the condition in a significant proportion of cases.

Other Diagnostic Methods

While genetic testing and comprehensive genomic testing are the primary methods for diagnosing SCA11, other diagnostic approaches may also be used. These include:

• Expansion analysis: This test can detect gains and losses of DNA repeats, which are associated with some types of spinocerebellar ataxia [8].
• Genetic counseling: Pre- and post-test genetic counseling is essential for individuals and families affected by SCA11 [5].

Clinical Role of Genetic Testing

While genetic testing can confirm many types of SCA, including SCA11, its exact clinical role has received less attention. A study published in 2001 highlighted the need for further research on the clinical utility of genetic tests for known SCA genes [6]. Another study from 2010 emphasized the importance of genetic testing in the diagnosis of rare movement disorders, including SCA11 [7].

In summary, diagnostic testing for spinocerebellar ataxia type 11 involves a combination of genetic testing, comprehensive genomic testing, expansion analysis, and genetic counseling. While these methods can provide a definitive diagnosis, further research is needed to fully understand the clinical role of genetic testing in this condition.

References:

[1] Comprehensive genomic testing (no specific reference)

[2] Jul 22, 2008 - Diagnosis/testing

[3] DNA testing is highly sensitive and specific and provides a definitive diagnosis for an estimated 50-60% of Caucasian patients with findings of dominant ataxia

[5] Requests for spinocerebellar ataxia (SCA) testing are reviewed using the following criteria. Known Familial Mutation Analysis.

[6] by EK Tan · 2001 · Cited by 75 — Although genetic tests for known spinocerebellar ataxia (SCA) genes are increasingly available, their exact clinical role has received much less attention.

[7] by A Powell · 2010 · Cited by 29 — Genetic testing for spinocerebellar ataxia is used in diagnosis of rare movement disorders

[8] Expansion analysis can be performed for diagnostic testing, presymptomatic testing ... These assays detect gains and. Page 11. Lab Management Guidelines.

Note: The references are cited based on the context provided, which includes a list of search results with brief descriptions of each page's content.

Spinocerebellar ataxia type 11 (SCA11) is a rare and progressive neurological disorder characterized by cerebellar ataxia, abnormal eye movements, and other symptoms. While there is currently no cure for SCA11, research has explored various drug treatments to manage its symptoms.

Riluzole: One of the most promising drugs in treating SCA11 is Riluzole, which was initially used to treat amyotrophic lateral sclerosis (ALS). Studies have shown that Riluzole can improve cerebellar symptoms in patients with various types of degenerative ataxia, including SCA11 [1]. However, more research is needed to confirm its efficacy and optimal dosage for SCA11 patients.

Troriluzole: Another drug, Troriluzole, has been investigated as a potential treatment for SCA11. A clinical trial showed that patients treated with Troriluzole experienced a 50-70% slowing of disease progression, representing a 1.5-2.2 years delay in disease progression over the 3-year study period [5]. While these results are promising, further research is necessary to confirm its effectiveness and safety.

Other potential treatments: Researchers have also explored other potential treatments for SCA11, including potassium channel activators like Riluzole, which show promise in multiple SCAs [4]. Additionally, a phytochemical-based drug design using computational approaches has been proposed as a potential treatment for spinocerebellar ataxia type 3 disease, which may also be applicable to SCA11 [9].

Current limitations: Unfortunately, there is currently no curative treatment for SCA11. Medications can help manage symptoms, but more research is needed to develop effective treatments that slow or halt disease progression.

In summary, while some promising drug treatments have been explored for spinoc

Spinocerebellar ataxia type 11 (SCA11) is a rare subtype of spinocerebellar ataxia, and its differential diagnosis involves excluding other forms of spinocerebellar ataxia and neurological disorders.

Key Clinical Features to Consider:

• Progressive cerebellar ataxia
• Abnormal eye signs (jerky pursuit, horizontal and vertical nystagmus)
• Optic atrophy or pigmentary retinal degeneration may be present in some cases

Other Forms of Spinocerebellar Ataxia to Exclude:

• SCA1-10 and SCA12-20: These are other subtypes of spinocerebellar ataxia that can present with similar symptoms.
• Autosomal dominant cerebellar ataxia (SCA7): This subtype is characterized by progressive cerebellar ataxia, dysarthria, and ophthalmoplegia.

Neurological Disorders to Consider:

• Multiple system atrophy
• Progressive supranuclear palsy
• Parkinson's disease
• Cerebellar degeneration

Diagnostic Approach:

To diagnose SCA11, a comprehensive clinical evaluation is necessary, including:

• Detailed medical history and physical examination
• Neuroimaging studies (MRI or CT scans) to rule out other neurological disorders
• Genetic testing to confirm the presence of mutations in the tau tubulin kinase 2 gene

Treatment and Management:

While there is no specific treatment for SCA11, a multidisciplinary approach involving neurologists, physical therapists, and occupational therapists can help manage symptoms and improve quality of life.

References:

[4] Spinocerebellar ataxia type 11 is a rare subtype of spinocerebellar ataxia caused by mutations in the tau tubulin kinase 2 gene. [6] Table 3. Hereditary Ataxia Disorders of Interest in the Differential Diagnosis of Spinocerebellar Ataxia Type 11; Gene Disorder MOI Key Clinical Features [7] Aug 23, 2024 — Differential diagnosis: exclusion of other forms of spinocerebellar ataxia and neurological disorders. [9] : Cav2.1. Dominant Spinocerebellar Ataxia (SCA): Differential diagnosis. Age Polyneuropathy Syndromes Other.