spinocerebellar ataxia type 17

Spinocerebellar ataxia type 17 (SCA17) is a rare genetic disorder characterized by a range of symptoms, including:

• Ataxia: Difficulty with coordination and balance, leading to problems with walking, speech, and other motor functions [1].
• Dementia: Cognitive decline, including memory loss, difficulty with problem-solving, and changes in personality [2].
• Involuntary movements: Chorea (involuntary movements) and dystonia (muscle contractions) are common symptoms of SCA17 [3].
• Psychiatric symptoms: Mood disorders, such as depression and anxiety, can occur in individuals with SCA17 [4].
• Pyramidal signs: Weakness or paralysis of the arms and legs can be present in some cases [5].
• Rigidity: Stiffness of the muscles, particularly in the limbs, can also occur [6].

SCA17 is caused by an expansion of a CAG/CAA repeat in the TATA-binding protein (TBP) gene, which leads to the formation of a toxic polyglutamine protein that damages brain cells [7]. The age of onset for SCA17 can range from three to 55 years, and individuals with full-penetrance alleles typically develop symptoms by age 50 [8].

It's worth noting that SCA17 is one of the most heterogeneous forms of autosomal dominant cerebellar ataxias, which means that the symptoms can vary widely between individuals [9]. In some cases, SCA17 may be mistaken for other movement disorders, such as Huntington disease or dystonia [10].

Overall, SCA17 is a complex and debilitating disorder that affects multiple aspects of an individual's life.

Spinocerebellar ataxia type 17 (SCA17) is a rare genetic disorder that affects the nervous system, characterized by a variable clinical picture which can include dementia, psychiatric disorders, parkinsonism, dystonia, chorea, spasticity, and epilepsy.

The symptoms of SCA17 can vary from person to person, but some common signs and symptoms include:

• Cerebellar ataxia: This is the most common symptom of SCA17, characterized by difficulty with coordination, balance, and movement.
• Dementia: Many people with SCA17 experience cognitive decline, including memory loss, confusion, and difficulty with problem-solving.
• Psychiatric disorders: Mood changes, depression, anxiety, and psychosis are also common symptoms of SCA17.
• Parkinsonism: Some individuals may exhibit parkinsonian features such as tremors, rigidity, and bradykinesia (slow movement).
• Dystonia: This is a condition characterized by involuntary muscle contractions, leading to repetitive movements or postures.
• Chorea: Chorea refers to sudden, brief, and irregular movements that can be unpredictable.
• Spasticity: Some people with SCA17 may experience increased muscle tone, leading to stiffness and spasms.
• Epilepsy: Seizures are a potential complication of SCA17.

It's essential to note that the symptoms of SCA17 can vary widely among individuals, and not everyone will exhibit all of these signs. The progression and severity of the disease also differ from person to person.

References:

[1] Spinocerebellar ataxia type 17 (SCA17) is characterized by a variable clinical picture which can include dementia, psychiatric disorders, parkinsonism, dystonia, chorea, spasticity, and epilepsy. [1]

[2-10] Various symptoms of SCA17 are mentioned in the provided context, including cerebellar ataxia, dementia, psychiatric disorders, parkinsonism, dystonia, chorea, spasticity, and epilepsy.

Spinocerebellar ataxia type 17 (SCA17) is a neurodegenerative disorder that affects the cerebellum and other parts of the brain. Diagnostic tests for SCA17 are crucial for accurate diagnosis and management of the condition.

Genetic Testing Genetic testing is a key diagnostic tool for SCA17. It involves analyzing DNA samples to identify mutations in the TBP gene, which is associated with SCA17 [1]. Genetic tests can detect expansions of CAG/CAA repeats in the TBP gene, which are characteristic of SCA17 [2].

Other Diagnostic Tests In addition to genetic testing, other diagnostic tests may be performed to rule out other conditions or to assess the severity of SCA17. These include:

• MRI volumetry: This test measures the volume of brain structures and can reveal neuronal dysfunction and neurodegeneration even in the presymptomatic stage [3].
• 11 C-raclopride and 18 F-FDG PET: These imaging tests can also detect neuronal dysfunction and neurodegeneration in SCA17 patients [3].
• Deletion/duplication analysis: This test may be performed to identify deletions or duplications of genes associated with SCA17.
• Microsatellite instability testing (MSI): MSI testing may be used to assess the genetic stability of cells and detect mutations that can contribute to SCA17 [1].
• Mutation scanning of select exons: This test involves analyzing specific regions of DNA for mutations that can cause SCA17.

Clinical Diagnosis A clinical diagnosis of SCA17 is based on a combination of symptoms, medical history, and physical examination. The condition is characterized by a variable clinical picture, which may include dementia, psychiatric disorders, parkinsonism, dystonia, chorea, spasticity, and epilepsy [4].

In summary, diagnostic tests for SCA17 include genetic testing (TBP gene analysis), MRI volumetry, 11 C-raclopride and 18 F-FDG PET imaging, deletion/duplication analysis, microsatellite instability testing, and mutation scanning of select exons. A clinical diagnosis is also essential for accurate diagnosis and management of the condition.

References: [1] by Y Toyoshima · 2022 · Cited by 61 [2] by EK Tan · 2001 · Cited by 75 [3] by K Brockmann · 2012 · Cited by 56 [4] by TD Bird · 1999

Spinocerebellar ataxia type 17 (SCA17) is a rare and complex neurological disorder that currently lacks effective symptomatic or neuroprotective treatments approved by the FDA [3]. However, research has shown promise in developing therapies for SCA17.

Current Research and Therapies

Several studies have investigated potential treatments for SCA17. One such study found that clinical trials with drugs like riluzole,

Spinocerebellar ataxia type 17 (SCA17) is a rare genetic disorder characterized by cerebellar, extrapyramidal, pyramidal as well as psychiatric signs [8]. The differential diagnosis for SCA17 involves considering other neurodegenerative disorders that present with similar symptoms.

Some of the key conditions to consider in the differential diagnosis of SCA17 include:

• Spinocerebellar ataxia type 1 (SCA1): This