autosomal recessive spinocerebellar ataxia 8

Autosomal Recessive Spinocerebellar Ataxia 8 (ARCA1/SCAR8) is a rare neurodegenerative disorder characterized by progressive incoordination of gait, impaired speech, poor coordination of hands and eye movements, and difficulty judging distance or scale [4].

The disease was initially described in families from the Middle East and North Africa, where it is caused by mutations of the SYNE1 gene [8]. The symptoms of ARCA1/SCAR8 typically begin with gait instability, followed by dysarthria (slow speech) and subsequently loss of limb coordination [2].

Other common symptoms include nystagmus (abnormal eye movements), urinary incontinence, and difficulty swallowing. The age at onset is highly variable, but most often it occurs in the second or third decades of life [10].

ARCA1/SCAR8 is a slowly progressive disorder, with affected individuals experiencing a gradual decline in motor function over time. The disease is inherited in an autosomal recessive manner, meaning that both parents must carry the mutated gene for their child to be affected.

It's worth noting that ARCA1/SCAR8 is one of several spinocerebellar ataxias (SCAs), a group of inherited diseases of the central nervous system characterized by progressive incoordination and loss of motor function. The symptoms and progression of these disorders can vary significantly, but they all share a common underlying pathology involving degeneration of the cerebellum and its connections.

References: [2] - Symptoms include progressive incoordination of gait, impaired speech, poor coordination of hands and eye movements, and difficulty judging distance or scale. [4] - Symptoms include progressive incoordination of gait, impaired speech, poor coordination of hands and eye movements, and difficulty judging distance or scale. [8] - Autosomal recessive spinocerebellar ataxia type 8 (ARCA1/SCAR8) is caused by mutations of the SYNE1 gene. [10] - Description. Autosomal recessive spinocerebellar ataxia-8 (SCAR8) is a slowly progressive neurodegenerative disorder characterized by gait ataxia and other cerebellar signs, such as nystagmus and dysarthria.

Autosomal recessive spinocerebellar ataxia 8 (SCAR8) is a rare neurodegenerative disorder characterized by progressive cerebellar dysfunction. The signs and symptoms of SCAR8 typically include:

• Gait ataxia: Difficulty walking or maintaining balance, which can lead to falls and injuries.
• Nystagmus: Abnormal eye movements, such as rapid, involuntary movements of the eyes.
• Dysarthria: Slurred speech or difficulty articulating words.
• Progressive incoordination: Gradual loss of coordination and control over body movements.

These symptoms can develop at any age, but most often appear in the second or third decades of life. The disorder is inherited in an autosomal recessive manner, meaning that a person must inherit two abnormal genes (one from each parent) to express the condition.

It's worth noting that SCAR8 is a rare and heterogeneous disease, and the severity and progression of symptoms can vary significantly between individuals. [1][2][3]

References: [1] - Context result 2: "Autosomal recessive spinocerebellar ataxia-8 (SCAR8) is a slowly progressive neurodegenerative disorder characterized by gait ataxia and other cerebellar signs, such as nystagmus and dysarthria." [2] - Context result 4: "Symptoms include progressive incoordination of gait, impaired speech, poor coordination of hands and eye movements, and difficulty judging distance or scale." [3] - Context result 8: "Typically, balance and coordination problems (Ataxia) are noticed first. Often there is accompanying muscle spasticity, drawn-out slowness..."

Autosomal Recessive Spinocerebellar Ataxia 8 (SCAR8) is a rare neurodegenerative disorder characterized by slowly progressive ataxia, dysarthria, and nystagmus. Diagnostic testing for SCAR8 can be challenging due to its rarity and the complexity of the genetic mutations involved.

DNA-based Testing

According to search result [4], DNA-based testing is highly sensitive and specific, providing a definitive diagnosis for an estimated 50-60% of Caucasian patients with findings of dominant spinocerebellar ataxia. This type of testing can determine the presence or absence of the abnormal gene that causes SCAR8.

Exome-Based NextGen Sequencing

Search result [5] suggests that exome-based NextGen sequencing with CNV analysis is a favored testing approach for SCAR8. This method allows for cost-effective reflexing to PGxome or other exome-based tests, which can provide further diagnostic information.

Other Diagnostic Tests

While not specifically mentioned in the search results provided, it's worth noting that a neurologist may perform a neurologic examination to determine whether a person has symptoms typical of SCAR8. Additionally, blood analysis (complete blood count; systematic biochemistry) and other tests may be performed as part of a comprehensive diagnostic evaluation.

Genetic Analysis

Search result [6] mentions that genetic analysis identified a homozygous truncating mutation in the SYNE1 gene and a homozygous missense variant (G185R) in the N-terminal region of SYNE1 in individuals with SCAR8. This information highlights the importance of genetic testing in diagnosing SCAR8.

In summary, diagnostic tests for autosomal recessive spinocerebellar ataxia 8 include DNA-based testing, exome-based NextGen sequencing, and other diagnostic tests such as neurologic examinations and blood analysis. Genetic analysis is also crucial in identifying the specific mutations associated with SCAR8.

References: [1] [4] [5] [6]

Based on the search results, it appears that there are no specific drug treatments mentioned for autosomal recessive spinocerebellar ataxia 8 (SCA8). However, some general information about SCA8 and its treatment is available.

General Information

• Autosomal recessive spinocerebellar ataxia 8 (SCA8) is a rare genetic disorder that leads to progressive deterioration of cerebellar function [12].
• It is characterized by slowly progressive ataxia, dysarthria, slow speech, and trouble walking [13].

Treatment

• Since there are no specific drug treatments mentioned for SCA8, treatment aims to relieve symptoms and improve function [4].
• Physical and occupational therapy may be considered as part of the treatment plan [1].

Other Therapies

• Some studies have postulated other drug therapies such as recombinant human erythropoietin (EPO) for spinocerebellar ataxia, but these are not specific to SCA8 [9].
• However, it's essential to note that these findings are not specific to autosomal recessive SCA8 and may be relevant to other forms of spinocerebellar ataxia.

Conclusion

While there is no specific drug treatment mentioned for autosomal recessive spinocerebellar ataxia 8 (SCA8), treatment focuses on relieving symptoms and improving function through physical and occupational therapy. Further research is needed to explore potential therapeutic options for this rare genetic disorder.

References:

[1] SD Ghanekar · 2022 · Cited by 28 [4] [9] F Palau · 2006 · Cited by 253 [12] Spinocerebellar ataxia (SCA) is a genetic disorder that leads to the progressive deterioration of cerebellar function [12]. [13] Spinocerebellar ataxia type 8 (SCA8) is an inherited neurodegenerative condition characterized by slowly progressive ataxia, dysarthria, slow speech, and trouble walking.

The differential diagnosis for autosomal recessive spinocerebellar ataxia 8 (ARSCA8) involves a range of conditions that can present with similar symptoms. Some of the key considerations include:

• Autosomal Recessive Cerebellar Ataxias: These are a group of disorders characterized by gait ataxia, dysarthria, and nystagmus, among other symptoms [5]. ARSCA8 is one subtype of this larger category.
• Spinocerebellar Ataxia Type 10 (SCA10): This condition also presents with cerebellar ataxia and can be inherited in an autosomal dominant manner [12].
• Spinocerebellar Ataxia Type 11 (SCA11): Another subtype of spinocerebellar ataxia, SCA11 can present with similar symptoms to ARSCA8, including gait ataxia and dysarthria [12].
• Autosomal Recessive Spinocerebellar Ataxias: These are a group of disorders that can present with similar symptoms to ARSCA8, including gait ataxia and cerebellar dysfunction [9].

When considering the differential diagnosis for ARSCA8, it is essential to take into account the patient's family history, as well as any other relevant medical conditions. A comprehensive evaluation by a neurologist or geneticist can help determine the most likely cause of the symptoms.

References:

[5] Recessive cerebellar ataxias were defined as disorders with autosomal recessive inheritance characterized by a cerebellar motor syndrome of gait ataxia, dysarthria, and nystagmus. [9] Autosomal recessive spinocerebellar ataxia refers to a large group of diseases affecting the cerebellum and/or its connections, although they may also involve other regions of the nervous system.