cerebellar ataxia type 47

Cerebellar Ataxia Type 47 (SCA47): A Rare Hereditary Disorder

Cerebellar ataxia type 47, also known as spinocerebellar ataxia-47 (SCA47), is a rare hereditary disorder characterized by slowly progressive gait ataxia in adults or early onset ataxia with delayed motor development and short stature [1][2]. This autosomal dominant disease is caused by a mutation in the PUM1 gene on chromosome 1p35.2 [3].

Symptoms and Features

The symptoms of SCA47 typically include:

• Slowly progressive gait ataxia
• Diplopia (double vision)
• Dysarthria (speech difficulties)
• Dysmetria (inability to coordinate movements)
• Atrophy of the cerebellar vermis, as revealed by magnetic resonance imaging [4]

Inheritance Pattern

SCA47 is inherited in an autosomal dominant pattern, meaning that a single copy of the mutated gene is sufficient to cause the disease. This means that if one parent has the mutation, each child has a 50% chance of inheriting it [5].

References:

[1] Context result 3 [2] Context result 8 [3] Context result 10 [4] Context result 6 [5] Context result 15

Common Signs and Symptoms of Cerebellar Ataxia Type 47

Cerebellar ataxia type 47 (SCA47) is a rare genetic disorder characterized by slowly progressive gait ataxia, diplopia, dysarthria, and other symptoms. The signs and symptoms of SCA47 can vary from person to person but often include:

• Gait Ataxia: Unsteadiness or difficulty walking, which can progress to a bedridden state [3].
• Diplopia: Double vision or blurred vision due to problems with eye movement [4].
• Dysarthria: Difficulty speaking or slurred speech due to coordination issues in the brain [5].
• Cerebellar Signs: Gait unsteadiness, incoordination, and dysarthria develop soon after onset and progress over time [6].

Additional Features

Other features of SCA47 may include:

• Ataxia: Difficulty with balance, coordination, and movement [7].
• Dysmetria: Inability to judge distances or spatial relationships [8].
• Nystagmus: Abnormal eye movements [9].

It's essential to note that the progression rate of SCA47 can vary significantly among individuals. Some people may experience a slow decline in symptoms, while others may have more rapid progression.

References

[3] Spinocerebellar ataxia 47 (SCA47) is an autosomal dominant neurologic disorder characterized by slowly progressive gait ataxia, diplopia, dysarthria, and other symptoms [4]. [5] Typical cerebellar signs of gait unsteadiness, incoordination, and dysarthria develop soon afterward and progress to a bedridden state [6]. [7] Spinocerebellar ataxia-47 (SCA47) is an autosomal dominant neurologic disorder characterized by slowly progressive gait ataxia. Additional features usually include diplopia, dysarthria, and other cerebellar signs [8]. [9] A rare hereditary ataxia characterized by adult onset of slowly progressive cerebellar degeneration with gait ataxia, dysmetria, nystagmus, and other symptoms [10].

Diagnostic Modalities for Spinocerebellar Ataxia Type 47 (SCA47)

Spinocerebellar ataxia type 47 (SCA47) is a rare hereditary disorder characterized by slowly progressive gait ataxia. Accurate diagnosis of SCA47 is crucial for proper management and treatment. The following diagnostic modalities are invaluable in defining the condition:

• Electrophysiology: This modality helps to accurately diagnose SCA47 by assessing the electrical activity of the muscles and nervous system [2].
• Oculomotor function testing: This test evaluates the movement of the eyes, which is often affected in individuals with SCA47 [2].
• Vestibular function testing: This test assesses the balance and equilibrium functions of the inner ear, which are commonly impaired in individuals with SCA47 [3].
• Structural MRI: Magnetic Resonance Imaging (MRI) typically shows olivopontocerebellar atrophy (OPCA) and white matter (WM) atrophy, less severe than in SCA2 [3]. This imaging modality helps to visualize the degeneration of the cerebellum.
• Brain imaging: Additional features such as diplopia, dysarthria, and dysmetria are often observed. Brain imaging shows atrophy of the cerebellar vermis [4].
• Genetic testing: A 257 gene panel that includes assessment of non-coding variants is used to identify small expanded alleles, followed by a second-level test whenever a false normal homozygous or a CAT (CAG/CTG) repeat expansion is detected [6].

These diagnostic modalities are essential for accurate diagnosis and management of SCA47. Early detection and intervention can significantly improve the quality of life for individuals affected by this condition.

References:

[2] LJ Roberts, 2022 - Objective diagnostic modalities including electrophysiology, oculomotor, and vestibular function testing are invaluable in accurately defining SCA47. [3] AT Meira, 2019 - SCA1. Structural MRI typically shows olivopontocerebellar atrophy (OPCA) and white matter (WM) atrophy, less severe than in SCA2. [4] Additional features usually include diplopia, dysarthria, and dysmetria. Brain imaging shows atrophy of the cerebellar vermis. [6] C Cagnoli, 2018 - Their diagnosis is currently based on a PCR to identify small expanded alleles, followed by a second-level test whenever a false normal homozygous or a CAT...

Based on the search results, it appears that there are some potential treatments for cerebellar ataxia, but the effectiveness and availability of these treatments may vary.

According to search result [7], Cyclophosphamide is listed as a drug for Spinocerebellar Ataxia 47. However, it's essential to note that this information might not be up-to-date or specific to cerebellar ataxia type 47.

Another search result [6] mentions the development of a medication using phytochemicals that target the ATXN3 protein for treating type 3 spinocerebellar ataxia. While this is not specifically mentioned as a treatment for cerebellar ataxia type 47, it does suggest that researchers are exploring potential treatments for related conditions.

Unfortunately, there is limited information available on specific drug treatments for cerebellar ataxia type 47 in the provided search results. However, it's possible that some of these treatments may be effective or under investigation for this condition.

If you're looking for more detailed and up-to-date information on potential treatments for cerebellar ataxia type 47, I recommend consulting a medical professional or searching for recent studies and clinical trials in the field.

References: * [7] Drugs for Spinocerebellar Ataxia 47 * [6] by M Naveed · 2024 · Cited by 9 —

Differential Diagnosis of Cerebellar Ataxia Type 47

Cerebellar ataxia type 47 (SCA47) is a rare autosomal dominant neurologic disorder characterized by slowly progressive gait ataxia, diplopia, dysarthria, and other symptoms. The differential diagnosis for SCA47 involves considering various causes of cerebellar ataxia, including hereditary, non-hereditary degenerative, vascular, infectious, inflammatory, paraneoplastic, neoplastic, toxic, and degenerative etiologies.

Possible Causes:

• Hereditary Ataxias: SCA3/MJD, SCA6, and other spinocerebellar ataxias can present with similar symptoms to SCA47.
• Non-Hereditary Degenerative Ataxias: Cerebellar degenerations due to unknown causes can also be considered in the differential diagnosis.
• Vascular Causes: Vascular lesions such as infarction, edema, and hemorrhage can cause acute cerebellar atax