spinocerebellar ataxia type 23

Spinocerebellar ataxia type 23 (SCA23) is a rare neurodegenerative disorder characterized by slowly progressive gait and limb ataxia [4,6]. The clinical phenotype of SCA23 is highly variable, but its cardinal feature is a late onset, slowly progressive cerebellar ataxia [5].

The major symptoms of SCA23 include:

• Gait ataxia: difficulty walking or maintaining balance
• Limb ataxia: coordination and movement problems in the arms and legs
• Dysarthria: slurred speech
• Tendon hyperreflexia: increased reflexes in the muscles
• Dysfunction of muscular apparatus [7]

Other features associated with SCA23 may include:

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

SCA23 is an adult-onset autosomal dominant neurodegenerative disorder, meaning that a single copy of the mutated gene is sufficient to cause the condition [4,6]. The age of onset for SCA23 typically ranges from 43-56 years old [1].

It's worth noting that there are different types of spinocerebellar ataxias, and SCA23 is one of them. The symptoms and characteristics of each type can vary, but they all involve some form of cerebellar dysfunction.

References:

[1] DS Verbeek · 2009 [4] Spinocerebellar ataxia-23 (SCA23) is an adult-onset autosomal dominant neurodegenerative disorder characterized by slowly progressive gait and limb ataxia, ... [5] The clinical phenotype of SCA23 is highly variable, but its cardinal feature is a late onset, slowly progressive cerebellar ataxia [1, 6]. [6] Spinocerebellar ataxia-23 (SCA23) is an adult-onset autosomal dominant neurodegenerative disorder characterized by slowly progressive gait and limb ataxia, ... [7] The major symptoms of SCA23 are gait ataxia, limb ataxia, dysarthria, tendon hyperreflexia, dysfunction of muscular apparatus. Other features ...

Spinocerebellar ataxia type 23 (SCA23) is a rare subtype of autosomal dominant cerebellar ataxia, characterized by a range of clinical features. The signs and symptoms of SCA23 include:

• Gait ataxia: Progressive incoordination of gait, which can lead to difficulty walking or maintaining balance [3].
• Dysarthria: Difficulty speaking or articulating words 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 [5].
• Ocular dysmetria: Inability to accurately judge distances and make precise eye movements [6].
• Babinski sign: A reflex that indicates damage to the nervous system, characterized by a toe extension when the sole of the foot is stimulated [7].
• Hyperreflexia: Increased reflexes in response to stimuli, which can indicate nerve damage or disease [8].

These symptoms are often accompanied by progressive ataxia, pyramidal and brainstem signs, as well as eye movement abnormalities such as nystagmus. The disorder typically affects adults and is characterized by slowly progressive gait and limb ataxia [9].

Spinocerebellar ataxia type 23 (SCA23) is a rare genetic disorder that affects the cerebellum, leading to progressive loss of coordination and balance. Diagnostic tests for SCA23 are crucial in confirming the diagnosis and ruling out other conditions with similar symptoms.

Diagnostic Features

• DNA testing is highly sensitive and specific, providing a definitive diagnosis for an estimated 50-60% of Caucasian patients with findings of dominant spinocerebellar ataxia (SCA) [1].
• Clinical features, head magnetic resonance imaging (MRI), and neuropathological findings are indistinguishable from other SCA subtypes [2].

Genetic Testing

• Genetic testing for SCA23 involves a genome-wide screen to identify the disease-causing gene [3].
• The primary benefit of diagnostic genetic testing is that it may provide a specific and accurate diagnosis, such as an SCA gene test in a patient whose symptoms are consistent with SCA23 [4].

Diagnostic Process

• Regular diagnostic screening and linkage analysis exclude known SCA genes and loci, prompting a genome-wide screen to map the disease-causing gene [3].
• A PCR (polymerase chain reaction) is used to identify small expanded alleles, followed by a second-level test whenever a false normal homozygous or a CAT (cytosine-adenine-thymine) repeat expansion is detected [5].

Other Diagnostic Considerations

• Due to broad clinical overlap, most laboratories that test for the hereditary ataxias have a battery of tests including testing for SCA1, SCA2, SCA3, SCA6, and other subtypes [6].
• A comprehensive diagnostic approach is essential to accurately diagnose SCA23 and rule out other conditions with similar symptoms.

References:

[1] Context 4 [2] Context 2 [3] Context 3 [4] Context 5 [5] Context 9 [6] Context 11

Spinocerebellar ataxia type 23 (SCA23) is a rare and complex neurodegenerative disorder that affects the cerebellum, leading to problems with coordination and movement. While there is no cure for SCA23, various treatments have been explored to manage its symptoms.

Current Treatment Options

According to recent studies [1], treatment options for SCA23 are limited, and most patients rely on symptomatic management rather than disease-modifying therapies. However, some promising approaches include:

• Riluzole: A drug used to treat amyotrophic lateral sclerosis (ALS), which has shown potential in improving cerebellar symptoms in patients with various types of degenerative ataxia [1].
• Troriluzole: A derivative of riluzole, which has been reported to slow disease progression in some SCA patients by 50-70% over a 3-year period [4].

Other Investigational Therapies

Research is ongoing to explore new treatment options for SCA23. For instance:

• Phytochemical-based drugs: A study aims to design a phytochemical-based drug using computational approaches to treat spinocerebellar ataxia type 3 disease, which may also be applicable to SCA23 [2].
• Topiramate: An open pilot trial has investigated the efficacy of topiramate in patients with various hereditary forms of spinocerebellar ataxia (SCA), including SCA23 [7].

Important Considerations

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Spinocerebellar ataxia type 23 (SCA23) is a subtype of the SCA family, characterized by mutant prodynorphin (PDYN) gene. When it comes to differential diagnosis, several conditions need to be considered.

• Pure cerebellar ataxia: This condition presents with progressive incoordination of gait, hands, and other movements, similar to SCA23. However, genetic testing is required to rule out SCA23.
• Non-cerebellar features: Some cases of SCA23 may present with non-cerebellar symptoms such as peripheral neuropathy, which can be a challenge in differential diagnosis [10].
• Other spinocerebellar ataxias: As SCA23 is part of the larger SCA family, other types of SCAs need to be ruled out through genetic testing and clinical evaluation.
• Differential diagnosis for isolated cases of unexplained progressive ataxia: In cases where a patient presents with progressive ataxia without a clear family history or known cause, a thorough differential diagnosis is necessary to rule out other conditions [6].

It's essential to note that SCA23 is diagnosed via genetic testing, which can help differentiate it from other conditions. A comprehensive evaluation by a healthcare professional, including clinical assessment and genetic testing, is crucial for accurate differential diagnosis.

References: [1] by F Wu · 2021 · Cited by 6 — Spinocerebellar ataxia type 23 (SCA23), one subtype of the SCA family, is characterized by mutant prodynorphin (PDYN) gene. [9] by S Fujioka · 2013 · Cited by 46 — This disease is mainly diagnosed via genetic testing; however, differential diagnoses include pure cerebellar ataxia and non-cerebellar features ... [10] by F Wu · 2021 · Cited by 6 — Gait, progressive ataxia, dysarthria, and eye movement disorder are common symptoms of spinocerebellar ataxias. Other symptoms include peripheral neuropathy, ...