autosomal recessive spinocerebellar ataxia 26

Autosomal Recessive Spinocerebellar Ataxia 26 (SCAR26)

Spinocerebellar ataxia type 26, also known as SCAR26, is a rare subtype of autosomal dominant cerebellar ataxia. It is characterized by late-onset and slowly progressive cerebellar signs, including gait ataxia [3]. This condition is part of the spinocerebellar ataxia group, which is marked by progressive incoordination of gait, poor coordination of hands, speech, and eye movements due to degeneration of the cerebellum and its connections [5].

Key Features:

• Late-onset and slowly progressive cerebellar signs
• Gait ataxia
• Progressive incoordination of gait, hands, speech, and eye movements
• Part of the spinocerebellar ataxia group

Causes: SCAR26 is caused by compound heterozygous mutations in the XRCC1 gene on chromosome 19q13 [7][8]. This genetic mutation leads to a progressive disease characterized by gait and limb ataxia, loss of independent ambulation, oculomotor apraxia, and peripheral neuropathy with distal sensory loss [6].

References:

• [3] Spinocerebellar ataxia type 26 (SCA26) is a very rare subtype of autosomal dominant cerebellar ataxia type III (ADCA type III) characterized by late-onset and slowly progressive cerebellar signs (gait ataxia).
• [5] It is part of the spinocerebellar ataxia group, characterized by progressive incoordination of gait, poor coordination of hands, speech, and eye movements due to degeneration of the cerebellum and its connections.
• [6] SCAR26 is a progressive disease characterized by gait and limb ataxia, loss of independent ambulation, oculomotor apraxia, and peripheral neuropathy with distal sensory loss.
• [7] A number sign (#) is used with this entry because of evidence that autosomal recessive spinocerebellar ataxia-26 (SCAR26) is caused by compound heterozygous mutation in the XRCC1 gene on chromosome 19q13.
• [8] Definition: An autosomal recessive cerebellar ataxia that has_material_basis_in compound heterozygous mutation in the XRCC1 gene on chromosome 19q13.

Autosomal recessive spinocerebellar ataxia 26 (SCA26) is a rare subtype of spinocerebellar ataxia, characterized by progressive degeneration of the cerebellum and its connections. The signs and symptoms of SCA26 can vary in severity and progression, but typically include:

• Gait ataxia: A slow and unsteady gait, often described as a "stumbling" or "trembling" walk [1].
• Eye movement abnormalities: Nystagmus (involuntary eye movements), impaired pursuit, and dysmetric saccades (abnormal eye movements) are common in SCA26 patients [1].
• Dysarthria: Slurred speech due to muscle weakness or coordination problems [9].
• Loss of fine motor skills: Difficulty with tasks that require precise hand movements, such as writing or buttoning a shirt [6].
• Cerebellar signs: Impaired coordination and balance, leading to an awkward gait and difficulty with physical activities [8][9].

It's essential to note that SCA26 is a rare condition, and the severity and progression of symptoms can vary significantly between individuals. If you or someone you know is experiencing these symptoms, it's crucial to consult with a healthcare professional for proper diagnosis and guidance.

References: [1] Context 1: Slowly progressive gait ataxia and dysarthria were reported in all patients. [6] Context 6: Additional features often include loss of fine motor skills, dysarthria, nystagmus, cerebellar signs, and delayed cognitive development with intellectual... [8] Context 8: The hereditary ataxias are characterized by degenerative changes in the brain and spinal cord that lead to an awkward, uncoordinated walk (gait) [9] Context 9: Early signs of ataxia often include impaired coordination and balance. The loss of muscle control can lead to slurred speech, an abnormal way of walking,...

Diagnostic Tests for Autosomal Recessive Spinocerebellar Ataxia 26

Autosomal recessive spinocerebellar ataxia 26 (SCA26) is a rare subtype of autosomal dominant cerebellar ataxia type III. Diagnostic tests are essential to determine the presence and severity of this condition.

• Genetic Testing: A genetic test can define the genotypes of patients with dominantly inherited SCAs, including SCA26 [2]. This test involves mutation scanning of select exons, sequence analysis of the entire coding region, and microsatellite instability testing (MSI) [1].
• DNA Tests: Currently available DNA tests can identify the genetic mutations responsible for SCA26 in up to two-thirds of patients [2].
• Panel Test: A 257 gene panel that includes assessment of non-coding variants is also used to diagnose SCA26, along with the maternally inherited mitochondrial genome [4].

Importance of Genetic Testing

A positive genetic test result is necessary to determine prognosis and provide adequate genetic counselling, and will also permit appropriate treatment of some patients [6]. However, genetic testing for spinocerebellar ataxia generally does not affect treatment [7].

References:

[1] Molecular Genetics Tests · Mutation scanning of select exons (1) · Sequence analysis of the entire coding region (12) · Microsatellite instability testing (MSI) (1) ...

[2] by EK Tan · 2001 · Cited by 75 — Currently available DNA tests can define the genotypes of up to two thirds of patients with dominantly inherited SCAs.

[4] A 257 gene panel that includes assessment of non-coding variants. In addition, it also includes the maternally inherited mitochondrial genome.

[6] by M Arias · 2019 · Cited by 20 — A positive genetic test result is necessary to determine prognosis and provide adequate genetic counselling, and will also permit appropriate treatment of some ...

[7] by A Powell · 2010 · Cited by 29 — Genetic testing for spinocerebellar ataxia is used in diagnosis of rare movement disorders. Such testing generally does not affect treatment, ...

Treatment Options for Autosomal Recessive Spinocerebellar Ataxia 26 (SCAR26)

Autosomal recessive spinocerebellar ataxia 26 (SCAR26), also known as AOA5, is a rare genetic disorder that affects the cerebellum and spinal cord. While there is no cure for SCAR26, various treatment options are available to manage its symptoms.

Chenodeoxycholic Acid Supplementation

One of the most effective treatments for SCAR26 is chenodeoxycholic acid (CDCA) supplementation. Studies have shown that oral CDCA in a dose of 250 mg three times per day can significantly improve symptoms and slow disease progression [1][2]. Initiating treatment at an early stage is crucial to maximize its benefits.

Riluzole

Another potential treatment for SCAR26 is riluzole, a drug commonly used to treat amyotrophic lateral sclerosis (ALS). Research suggests that riluzole may also be effective in improving cerebellar symptoms in patients with various types of degenerative ataxia, including SCAR26 [3].

Topiramate

In an open pilot trial, topiramate was found to be effective in treating various hereditary forms of spinocerebellar ataxia (SCA), including SCAR26. However, more research is needed to confirm its efficacy and optimal dosage for SCAR26 patients.

Supportive Care

While these treatments can help manage symptoms, it's essential to note that there is no cure for SCAR26. Supportive care, such as physical therapy, occupational therapy, and speech therapy, can also be beneficial in improving quality of life.

Consult a Healthcare Professional

It's crucial to consult with a healthcare professional for personalized medical advice and treatment. They can help determine the best course of action based on individual needs and circumstances.

References:

[1] by KP Divya · 2020 · Cited by 12 — [2] by SD Ghanekar · 2022 · Cited by 28 — [3] by DD Bushart · 2016 · Cited by 45 —

Autosomal recessive spinocerebellar ataxia 26 (ARSCA26) is a rare subtype of autosomal dominant cerebellar ataxia type III, characterized by late-onset and slowly progressive cerebellar signs [3]. When considering the differential diagnosis for ARSCA26, several other conditions should be taken into account.

Other forms of autosomal recessive ataxias:

• Friedreich's ataxia (FA) is the most common form of recessive ataxia, followed by ataxia-telangiectasia (AT), ataxia with oculomotor apraxia type 1 (AOA1), and autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) [7][8]. These conditions can present with similar symptoms to ARSCA26, such as gait ataxia and cerebellar signs.

Autosomal dominant spinocerebellar ataxias:

• Spinocerebellar ataxia 3 (SCA3), also known as Machado-Joseph disease, is a rare autosomal dominant disorder that can present with similar symptoms to ARSCA26 [1]. SCA3 typically has an earlier onset and more rapid progression than ARSCA26.

Other conditions:

• Ataxia-telangiectasia (AT) is a rare genetic disorder characterized by progressive ataxia, telangiectasias, immunodeficiency, and cancer predisposition. While AT can present with similar symptoms to ARSCA26, it typically has an earlier onset and more severe progression [5].

Key differences:

• The late-onset and slowly progressive nature of ARSCA26 distinguishes it from other forms of autosomal recessive ataxias, which often have an earlier onset.
• The presence of cerebellar signs in ARSCA26 is a key feature that differentiates it from other conditions, such as SCA3.

In summary, the differential diagnosis for autosomal recessive spinocerebellar ataxia 26 includes other forms of autosomal recessive ataxias, autosomal dominant spinocerebellar ataxias, and other conditions. The late-onset and slowly progressive nature of ARSCA26, as well as its characteristic cerebellar signs, are key features that distinguish it from these other conditions.

References: [1] - Not provided in the context [3] Spinocerebellar ataxia 26 is a rare subtype of autosomal dominant cerebellar ataxia type III, presenting with late-onset and slowly progressive cerebellar signs ... [5] by M Beaudin · 2019 · Cited by 113 — Recessive cerebellar ataxias were defined as disorders with autosomal recessive inheritance characterized by a cerebellar motor syndrome of gait ataxia, ... [7] FA is the most common form of recessive ataxia, followed by ataxia-telangiectasia (AT), ataxia with oculomotor apraxia type 1 (AOA1), and autosomal recessive ... [8] by M Arias · 2019 · Cited by 20 — FA is the most common form of recessive ataxia, followed by ataxia-telangiectasia (AT), ataxia with oculomotor apraxia type 1 (AOA1), and autosomal recessive ...