autosomal recessive spinocerebellar ataxia 11

Autosomal Recessive Spinocerebellar Ataxia 11 (ARSCA11) Overview

ARSCA11 is a rare hereditary disorder characterized by late-onset ataxia, gait disturbances, dysarthria, limb and truncal ataxia, and other cerebellar symptoms [5]. It is caused by mutations in the SYT14 gene [1].

Key Features:

• Late-onset spinocerebellar ataxia
• Slowly progressive gait disturbances
• Dysarthria (speech difficulties)
• Limb and truncal ataxia (loss of coordination and balance)
• Other cerebellar symptoms, such as eye movement abnormalities and pyramidal signs [3]

Important Notes:

• ARSCA11 is a rare disorder, and its exact prevalence is unknown.
• The disease progression is typically slow, with symptoms worsening over time.

References:

[1] - Any autosomal recessive syndromic cerebellar ataxia in which the cause of the disease is a mutation in the SYT14 gene. (Search result 1) [5] - Spinocerebellar ataxia, autosomal recessive 11 is a rare hereditary disorder characterized by late-onset ataxia, gait disturbances, dysarthria, limb and truncal ... (Search result 5)

Autosomal recessive spinocerebellar ataxia (SCA) refers to a group of rare genetic disorders that affect the cerebellum, leading to progressive loss of coordination and balance. Autosomal recessive SCA11 is one such disorder.

Common signs and symptoms:

• Progressive incoordination: Patients with autosomal recessive SCA11 experience gradual worsening of motor coordination, affecting gait, stance, limbs, and speech.
• Dysarthria: Speech difficulties are a common symptom, often manifesting as slurred or slow speech.
• Oculomotor disturbances: Abnormal eye movements, such as nystagmus (jerky pursuit), horizontal, and vertical, may be observed.
• Pyramidal features: In some cases, pyramidal signs like weakness in the muscles may occur.
• Peripheral neuropathy: Rarely, peripheral neuropathy may be present.

Age of onset:

The age of onset for autosomal recessive SCA11 can vary, but it typically appears after 18 years of age and gradually worsens over several years.

Genetic inheritance:

Autosomal recessive SCA11 is inherited in an autosomal recessive pattern, meaning that a person must inherit two copies of the mutated gene (one from each parent) to express the condition. The parents themselves are usually asymptomatic carriers.

These symptoms and characteristics are based on information available up to 2024 [1][2][3][4].

Diagnosis of Autosomal Recessive Spinocerebellar Ataxia 11

Autosomal recessive spinocerebellar ataxia 11 (SCA11) is a rare genetic disorder that affects the cerebellum, leading to progressive loss of coordination and balance. The diagnosis of SCA11 can be challenging, but several diagnostic tests can help confirm the condition.

• Genetic Testing: Genetic testing is the most accurate method for diagnosing SCA11. It involves analyzing DNA samples from affected individuals to identify mutations in the SYT14 gene [5]. This test can distinguish SCA11 from other forms of spinocerebellar ataxia.
• Clinical Evaluation: A thorough clinical evaluation by a neurologist or geneticist is essential for diagnosing SCA11. The evaluation includes a detailed medical history, physical examination, and assessment of symptoms such as coordination and balance problems [3].
• Imaging Studies: Imaging studies like magnetic resonance imaging (MRI) can help rule out other conditions that may cause similar symptoms. However, MRI findings are not specific for SCA11 and should be interpreted in conjunction with genetic testing results.
• Other Diagnostic Tests: Other diagnostic tests, such as blood tests or molecular analysis, may be performed to confirm the diagnosis of SCA11.

It's essential to note that a definitive diagnosis of SCA11 can only be made through genetic testing. A positive test result is necessary for determining prognosis and providing adequate genetic counseling [11].

References: [3] - Diagnosis is based on signs and symptoms and is confirmed by genetic testing finding a change in the TTBK2 gene. It is inherited in an autosomal dominant manner ... [5] - Any autosomal recessive syndromic cerebellar ataxia in which the cause of the disease is a mutation in the SYT14 gene. [11] - A positive genetic test result is necessary to determine prognosis and provide adequate genetic counselling, and will also permit appropriate treatment of some ...

Treatment Options for Autosomal Recessive Spinocerebellar Ataxia 11 (SCA11)

Autosomal recessive SCA11 is a rare genetic disorder characterized by progressive cerebellar ataxia and abnormal eye signs. While there is no cure for this condition, various treatment options can help manage its symptoms.

• Dietary or biochemical treatments: Four autosomal recessive types of SCA have dietary or biochemical treatment modalities [8]. However, it's essential to note that these treatments are specific to the type of SCA and may not be applicable to all cases.
• Vitamin E deficiency treatment: One of the autosomal recessive forms of SCA is associated with vitamin E deficiency. Supplementing with vitamin E can help alleviate symptoms in this particular case [8].
• Supportive care: The primary focus for treating SCA11 is supportive care, which includes managing symptoms and improving quality of life [3]. This may involve physical therapy to maintain mobility, speech therapy to address dysarthria, and the use of assistive devices such as canes.
• Medications: While there are no FDA-approved medications specifically for SCA11, some studies suggest that certain drugs like riluzole may be effective in managing symptoms [5]. However, more research is needed to confirm their efficacy.

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 circumstances.

References:

[3] - There is no cure for SCA11 and treatment is supportive. Language and speech therapy can help patients with dysarthria. Physiotherapy and the use of canes, ...

[5] by DD Bushart · 2016 · Cited by 45 — 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 ...

[8] by S Jayadev · 2013 · Cited by 324 — Four autosomal recessive types have dietary or biochemical treatment modalities (ataxia with vitamin E deficiency, cerebrotendinous ...

Based on the search results, it appears that Autosomal Recessive Spinocerebellar Ataxia 11 (SCA11) is a rare subtype of spinocerebellar ataxia. However, to provide an accurate differential diagnosis, we need to consider other conditions that may present with similar symptoms.

Similar Conditions:

• Friedreich's Ataxia: This is the most common autosomal recessive ataxia and typically presents in childhood or adolescence. It is characterized by progressive gait and limb ataxia, dysarthria, lower limb areflexia, and other neurological symptoms [7].
• Ataxia-Telangiectasia: This is a rare genetic disorder that affects the nervous system, immune system, and other bodily systems. It typically presents in childhood with symptoms such as ataxia, telangiectasias (dilated blood vessels), immunodeficiency, and cancer predisposition [9].
• Autosomal Recessive Cerebellar Ataxias (ARCAs): These are a heterogeneous group of neurodegenerative disorders affecting primarily the cerebellum and/or its afferent pathways. ARCAs can present with symptoms such as ataxia, dysarthria, and other neurological deficits [8].

Key Differences:

• Age of Onset: SCA11 typically presents in adulthood or late childhood, whereas Friedreich's Ataxia and Ataxia-Telangiectasia often present in childhood.
• Genetic Cause: SCA11 is caused by mutations in the tau tubulin kinase 2 gene [5], while Friedreich's Ataxia and Ataxia-Telangiectasia are caused by different genetic mutations.
• Clinical Presentation: While all three conditions can present with ataxia, dysarthria, and other neurological symptoms, SCA11 is often characterized by progressive cerebellar ataxia, abnormal eye signs (jerky pursuit, horizontal and vertical nystagmus), and dysarthria [3].

Differential Diagnosis:

Based on the above information, a differential diagnosis for Autosomal Recessive Spinocerebellar Ataxia 11 might include:

• Friedreich's Ataxia
• Ataxia-Telangiectasia
• Other autosomal recessive cerebellar ataxias (ARCAs)

It is essential to note that a definitive diagnosis of SCA11 can only be made through genetic testing and clinical evaluation.

References: [3] by D Felício · 2024 — SCA11 is a rare type of autosomal dominant cerebellar ataxia, mainly characterized by progressive cerebellar ataxia, abnormal eye signs and dysarthria. [5] by Z Gong · 2023 · Cited by 1 — Spinocerebellar ataxia type 11 is a rare subtype of spinocerebellar ataxia caused by mutations in the tau tubulin kinase 2 gene. [7] by F Palau · 2006 · Cited by 253 — Patients with AVED show clinical signs similar to those in Friedreich ataxia, including gait and limb ataxia, dysarthria, lower limb areflexia, ... [8] by D Lopergolo · 2024 · Cited by 1 — Autosomal recessive cerebellar ataxias (ARCAs) are a heterogeneous group of neurodegenerative disorders affecting primarily the cerebellum and/or its afferent ... [9] by S Jayadev · 2013 · Cited by 324 — Autosomal recessive ataxias usually have onset in childhood; the most common subtypes are Friedreich, ataxia-telangiectasia, ataxia with ...