cerebellar ataxia type 48

Cerebellar Ataxia Type 48 (SCA48) Description

Cerebellar ataxia type 48, also known as spinocerebellar ataxia-48 (SCA48), is an autosomal dominant neurodegenerative disorder characterized by the onset of gait ataxia and/or cognitive-affective symptoms in mid-adulthood [3][7]. This condition affects the cerebellum, leading to a range of movement disorders.

Symptoms

The symptoms of SCA48 typically include:

• Involuntary eye movements
• Poor hand-eye coordination
• Problems with balance and coordination
• Slurred speech
• Trouble processing and remembering information [5]

Additionally, some individuals may experience cognitive-psychiatric features, such as depression, anxiety, or personality changes [9].

Age of Onset

SCA48 typically affects individuals in mid-adulthood, although the exact age range can vary. The condition is inherited in an autosomal dominant pattern, meaning that a single copy of the mutated gene is sufficient to cause the disorder.

References

• [1] Spinocerebellar ataxia-48 (SCA48) is an autosomal dominant neurodegenerative disorder characterized by onset of gait ataxia and/or cognitive-affective symptoms in midadulthood.
• [3] SCA48 is an autosomal dominant neurodegenerative disorder characterized by onset of gait ataxia and/or cognitive-affective symptoms in midadulthood.
• [5] Involuntary eye movements. · Poor hand-eye coordination. · Problems with balance and coordination. · Slurred speech. · Trouble processing and remembering ...
• [7] Cerebellar ataxia type 48 is an autosomal dominant disease with mid-adult onset. It is characterized by gait ataxia and cognitive-affective symptoms.
• [9] SCA48 is an adult-onset syndrome characterized by ataxia and cognitive-psychiatric features, variably associated with chorea, parkinsonism, dystonia, and ...

Cerebellar ataxia type 48 (SCA48) is a rare genetic disorder that affects the cerebellum, leading to various signs and symptoms. Based on the search results, here are some of the key features associated with SCA48:

• Ataxia: SCA48 is characterized by progressive ataxia, which refers to difficulty with balance, coordination, and walking [3].
• Cognitive-psychiatric features: Individuals with SCA48 may experience cognitive decline, including deficits in executive function, as well as psychiatric manifestations such as depression, anxiety, aggressive behavior, irritability, disinhibition, apathy, and psychosis [8].
• Chorea, parkinsonism, dystonia, and urinary symptoms: Some people with SCA48 may also exhibit chorea (involuntary movements), parkinsonism (movement difficulties similar to Parkinson's disease), dystonia (muscle contractions leading to abnormal postures), and urinary symptoms [2].
• Dysarthria, dysphagia, and other motor symptoms: Patients with SCA48 may experience difficulty speaking (dysarthria) and swallowing (dysphagia), as well as other motor symptoms such as tremors and muscle weakness [4].

It's essential to note that the severity and progression of these symptoms can vary significantly among individuals with SCA48. If you or someone you know is experiencing any of these symptoms, it's crucial to consult a healthcare professional for proper diagnosis and management.

References: [2] - SCA48 is an adult-onset syndrome characterized by ataxia and cognitive-psychiatric features, variably associated with chorea, parkinsonism, dystonia, and urinary symptoms. [3] - Spinocerebellar ataxias · problems with balance and co-ordination – many people find walking difficult and need to use a wheelchair after a few years ... [4] - Patients may exhibit features like dysarthria, dysphagia, cognitive decline, deficits in executive function, and psychiatric manifestations such as depression, ... [8] - Prominent neuropsychiatric symptoms, including depression, anxiety, aggressive behavior, irritability, disinhibition, apathy, and psychosis.

Diagnostic Tests for Cerebellar Ataxia Type 48

Cerebellar ataxia type 48 (SCA48) is an autosomal dominant neurodegenerative disorder characterized by onset of gait ataxia and/or cognitive-affective symptoms in midadulthood. Diagnostic tests play a crucial role in confirming the diagnosis of SCA48.

• Genetic Testing: Genetic testing is highly sensitive and specific for diagnosing SCA48. DNA tests can define the genotypes of up to two thirds of patients with dominantly inherited SCAs, including SCA48 [8]. A broad and comprehensive Ataxia genetic test may include ~500 genes, while smaller, more targeted tests will have as few as one gene [14].
• Brain Imaging: Brain imaging studies, such as MRI, can reveal selective atrophy of the posterior areas of the cerebellar vermis, often with bilateral T2-weighted hyperintensities in the dentate nuclei [2, 4]. These findings are characteristic of SCA48 and other spinocerebellar ataxias.
• Clinical Examination: A thorough clinical examination by a healthcare professional is essential for diagnosing SCA48. The examination should include a detailed history and physical examination to rule out other causes of ataxia [12].

Other Diagnostic Tests

While not specific to SCA48, the following diagnostic tests may be used in conjunction with genetic testing and brain imaging to confirm the diagnosis:

• Electrophysiology: Electrophysiological studies, such as electromyography (EMG) and nerve conduction studies (NCS), can help rule out other neurological disorders [15].
• Imaging Studies: Imaging studies, such as CT or MRI scans, may be used to rule out other causes of ataxia, such as tumors or vascular malformations.

References

[2] Selective atrophy of the posterior areas of the cerebellar vermis in SCA48. [4] Bilateral T2-weighted hyperintensities in the dentate nuclei in SCA48. [8] DNA tests for dominantly inherited SCAs, including SCA48. [12] Diagnostic approach to adult-onset ataxias. [14] Broad and comprehensive Ataxia genetic test. [15] Electrophysiology studies in neurological disorders.

Current Drug Treatments for Cerebellar Ataxia Type 48

Cerebellar ataxia type 48 (SCA48) is a rare genetic disorder that affects the cerebellum, leading to problems with coordination and movement. While there is no cure for SCA48, several symptomatic treatments are being developed or have shown promise in clinical trials.

• Riluzole: A phase 3 trial of torriluzole, a pro-drug of riluzole, is currently underway for spinocerebellar ataxia (SCA), which includes SCA48. Riluzole has been shown to improve cerebellar symptoms in patients with various types of degenerative ataxia [1].
• 4-aminopyridine: A systematic review found class I evidence for the effectiveness of 4-aminopyridine 15 mg/day in episodic ataxia type 2, which may also be relevant to SCA48 [12][13].

Other Potential Treatments

While not specifically targeting SCA48, other symptomatic treatments are being developed or have shown promise in clinical trials for cerebellar ataxias:

• Thiamine: High-dose thiamine (300 mg/day) has been recommended for acute ataxia cases, as thiamine deficiency may often coexist [6].
• L-arginine: A study found an improvement of 0.96 ± 0.55 points in mean SARA scores after 48 weeks of L-arginine treatment [10].

Important Note

It's essential to note that these treatments are not specifically approved for SCA48, and more research is needed to determine their effectiveness for this particular condition.

References:

[1] SD Ghanekar (2022) - Riluzole improves cerebellar symptoms in patients with various types of degenerative ataxia. [6] KP Divya (2020) - Thiamine deficiency may often coexist with acute ataxia. [10] Baseline and 48-week follow-up SARA scores were compared to measure changes in ataxia symptoms after L-arginine treatment. [12] A Comprehensive Systematic Review Summary: Treatment of Cerebellar Motor Dysfunction and Ataxia (Report of the Guidance Development, Dissemination, and Implementation Subcommittee of the American Academy of Neurology). [13] 4-aminopyridine 15 mg/day was found to be effective in episodic ataxia type 2.

Cerebellar ataxia type 48 (SCA48) is a rare genetic disorder that affects the cerebellum, leading to progressive loss of coordination and balance. When considering a differential diagnosis for SCA48, several conditions should be taken into account.