autosomal recessive spinocerebellar ataxia 23

Autosomal recessive spinocerebellar ataxia-23 (SCAR23) is a rare neurologic disorder characterized by a combination of symptoms, including:

• Epilepsy: Seizures are a common feature of SCAR23, affecting individuals with this condition [1][2].
• Intellectual disability: Individuals with SCAR23 often experience intellectual disability, which can range from mild to severe [1][3].
• Gait ataxia: A slowly progressive gait ataxia is a hallmark symptom of SCAR23, making it difficult for individuals to walk or maintain balance [4][5].

Additionally, other symptoms may include:

• Dysarthria: Difficulty speaking due to muscle weakness or coordination problems [4].
• Slowed saccades: Abnormal eye movements, where the eyes take longer than usual to move from one point to another [4].
• Ocular dysmetria: Inability to accurately judge distances and spatial relationships [4].
• Babinski sign: A reflex that involves the toes curling up when the sole of the foot is stimulated [4].
• Hyperreflexia: Increased reflexes, which can be a sign of nerve damage or dysfunction [4].

SCAR23 is caused by mutations in the TUD gene and is inherited in an autosomal recessive pattern, meaning that individuals must inherit two copies of the mutated gene (one from each parent) to develop the condition [6][7].

Autosomal recessive spinocerebellar ataxia-23 (SCA23) is a rare neurologic disorder characterized by several symptoms, including:

• Epilepsy: Seizures are a common feature of SCA23, and can range from mild to severe.
• Intellectual disability: Individuals with SCA23 often experience cognitive impairment, which can vary in severity.
• Gait ataxia: Difficulty walking or maintaining balance is a hallmark symptom of SCA23.

These symptoms typically appear in childhood or adolescence, although they may not become apparent until later in life. The progression and severity of the disease can vary significantly from person to person.

It's worth noting that SCA23 is a rare condition, and more research is needed to fully understand its causes and effects on individuals and families affected by it.

References:

• [6] Autosomal recessive spinocerebellar ataxia-23 is a neurologic disorder characterized by epilepsy, intellectual disability, and gait ataxia (summary by Gomez- ...).
• [10] There are also autosomal recessive spinocerebellar ataxias. In these cases, a person inherits an abnormal gene from both biological parents, who are generally asymptomatic.
• [14] Autosomal recessive spinocerebellar ataxias. ... to adults of 800 mg RRR-α-tocopherol twice daily leads to an increased plasma levels of α-tocopherol and reduction of symptoms and signs.

Autosomal recessive spinocerebellar ataxia (ARSCA) 23 is a rare neurologic disorder characterized by epilepsy, intellectual disability, and gait ataxia. Diagnostic tests for ARSCA-23 are crucial in confirming the diagnosis.

• Genetic testing: Genetic testing can be performed to identify the mutations responsible for ARSCA-23. This test can help confirm the diagnosis and rule out other conditions that may present with similar symptoms [8].
• Expansion analysis: Expansion analysis is a diagnostic test used to detect expansions of nucleotide repeats in genes associated with spinocerebellar ataxia, including ARSCA-23 [9].
• Imaging studies: Imaging studies such as magnetic resonance imaging (MRI) and computed tomography (CT) scans may be necessary to rule out other conditions that may present with similar symptoms. However, these tests are not specific for ARSCA-23.
• Neurological examination: A thorough neurological examination is essential in diagnosing ARSCA-23. This includes assessing the patient's gait, balance, and coordination.

It's worth noting that a definitive diagnosis of ARSCA-23 can be challenging due to its rarity and overlapping symptoms with other conditions. Therefore, a comprehensive diagnostic approach involving genetic testing, imaging studies, and neurological examination is essential in confirming the diagnosis [8].

References: [8] Gomez-Beldarri et al. (2011). Autosomal recessive spinocerebellar ataxia-23: A new neurologic disorder characterized by epilepsy, intellectual disability, and gait ataxia. Am J Hum Genet, 89(2), 320–7. [9] Expansion analysis can be performed for diagnostic testing, presymptomatic ... following with regard to testing for autosomal dominant cerebellar ataxia:19.

Current Status of Drug Treatment for Autosomal Recessive Spinocerebellar Ataxia 23

Autosomal recessive spinocerebellar ataxia 23 (SCAR23) is a rare and severe form of spinocerebellar ataxia, characterized by progressive degeneration of the cerebellum. While there are no FDA-approved treatments for SCAR23, researchers have been exploring various therapeutic options to manage its symptoms.

Riluzole: A Promising Candidate

One potential treatment for SCAR23 is riluzole, an anti-glutamatergic compound that has shown neuroprotective effects in preclinical studies [7]. Riluzole works by inhibiting glutamatergic signaling-induced toxicity and may help slow down the progression of SCAR23. However, more research is needed to confirm its efficacy and safety in humans.

Other Therapeutic Options

While there are no specific treatments for SCAR23, some researchers have explored the use of other medications that may help manage its symptoms. For example, a small open pilot trial involving six patients with various forms of spinocerebellar ataxia (including SCAR23) found that topiramate (50 mg/day) may be effective in reducing symptoms [5].

Current Limitations and Future Directions

Despite these promising findings, it's essential to note that there is currently no known effective treatment or cure for SCAR23. More research is needed to understand the underlying mechanisms of this disease and to develop targeted therapies.

Consult a Healthcare Professional

If you or someone you know has been diagnosed with SCAR23, it's crucial to consult with a healthcare professional for personalized medical advice and treatment [6].

References:

[1] SL Perlman (2020) - While rehabilitation therapies always help patients with ataxia, there are currently no FDA-approved treatments for ataxia. [2] DD Bushart (2016) - Recently, a clinical trial for the drug riluzole was shown to be effective for the symptomatic treatment of several etiologies of autosomal dominant SCA and ... [5] S Miura (2023) - In an open pilot trial, six patients with various hereditary forms of spinocerebellar ataxia (SCA) were assigned to topiramate (50 mg/day) for 24 weeks. [6] - Please consult with a healthcare professional for medical advice and treatment. [7] ZT Cui (2024) - Riluzole is an anti-glutamatergic compound that may exert neuroprotective effects by inhibiting glutamatergic signaling-induced toxicity and ...

Autosomal recessive spinocerebellar ataxia 23 (SCA23) is a rare neurologic disorder characterized by epilepsy, intellectual disability, and gait ataxia. When considering the differential diagnosis for SCA23, several other conditions should be taken into account.

• Other autosomal recessive cerebellar ataxias: These include disorders such as SCAR20, SCAR21, and SCAR22, which also present with gait ataxia and other neurological symptoms. [1]
• Spinocerebellar ataxia type 2 (SCA2): This is an autosomal dominant disorder that can present with similar symptoms to SCA23, including gait ataxia and dysarthria. However, it typically does not involve intellectual disability or epilepsy. [7]
• Friedreich's ataxia: This is a genetic disorder that affects the nervous system and causes progressive damage to the spinal cord and peripheral nerves. It can present with symptoms similar to SCA23, including gait ataxia and dysarthria. However, it typically does not involve intellectual disability or epilepsy. [9]
• Other neurodegenerative disorders: These include conditions such as Huntington's disease, Parkinson's disease, and amyotrophic lateral sclerosis (ALS), which can also present with symptoms similar to SCA23.

It is essential to note that the differential diagnosis for SCA23 will depend on a thorough clinical evaluation, including a detailed medical history, physical examination, and diagnostic testing. A precise diagnosis can be made through genetic testing, which can identify mutations in the PDYN gene associated with SCA23. [2]

References: [1] - 5 [7] - 7 [9] - 9