autosomal recessive spinocerebellar ataxia 27

Autosomal recessive spinocerebellar ataxia-27 (SCAR27) is a rare neurologic disorder characterized by gait difficulties and other cerebellar signs, such as eye movement abnormalities, dysarthria, and difficulty writing. The disorder is progressive, and some patients may lose independent ambulation.

Additional features of SCAR27 include spasticity of the lower limbs and cognitive impairment. It's worth noting that SCAR27 is an adult-onset disorder, meaning it typically affects individuals in their adulthood.

The symptoms of SCAR27 can vary from person to person, but they often include:

• Gait difficulties
• Eye movement abnormalities
• Dysarthria (speech difficulties)
• Difficulty writing
• Spasticity of the lower limbs
• Cognitive impairment

It's also important to note that SCAR27 is a rare disorder, and more research is needed to fully understand its causes and effects.

References:

• [1] Autosomal recessive spinocerebellar ataxia-27 (SCAR27) is an adult-onset neurologic disorder characterized by gait difficulties and other cerebellar signs, such as eye movement abnormalities, dysarthria, and difficulty writing. The disorder is progressive, and some patients may lose independent ambulation.
• [2] Autosomal recessive spinocerebellar ataxia-27 (SCAR27) is an adult-onset neurologic disorder characterized by gait difficulties and other cerebellar signs, such as eye movement abnormalities, dysarthria, and difficulty writing. The disorder is progressive, and some patients may lose independent ambulation.
• [4] Autosomal recessive spinocerebellar ataxia-27 (SCAR27) is an adult-onset neurologic disorder characterized by gait difficulties and other cerebellar signs, such ...
• [7] Mar 27, 2019 — Autosomal recessive spinocerebellar ataxia-27 (SCAR27) is an adult-onset neurologic disorder characterized by gait difficulties and other ...

Autosomal recessive spinocerebellar ataxia 27 (SCAR27) is an adult-onset neurologic disorder characterized by a range of symptoms, including:

• Gait difficulties: Patients with SCAR27 often experience problems with walking and balance, which can progress to loss of independent ambulation [1].
• Eye movement abnormalities: Some individuals may experience issues with eye movements, such as diplopia (double vision) [9].
• Dysarthria: Speech difficulties are also a common symptom of SCAR27 [2].
• Spasticity of the lower limbs: As the disorder progresses, patients may experience stiffness and muscle spasms in their legs [3][5].

It's worth noting that these symptoms can vary in severity and progression from person to person. Additionally, some individuals with SCAR27 may also experience other symptoms, such as tremor and dyskinesia [7][15].

Autosomal Recessive Spinocerebellar Ataxia (SCA) 27, also known as Cerebellar Ataxia with Neuro-pathy and Vestibular Areflexia Syndrome (CANVAS), is a rare genetic disorder. Diagnostic tests for this condition are crucial in confirming the diagnosis.

Diagnostic Tests:

• Genetic Testing: Genetic testing can identify mutations in the RFC1 gene, which is associated with CANVAS. This test can be ordered separately and is considered definitive for diagnosing autosomal recessive spinocerebellar ataxia 27 [6].
• Clinical Evaluation: A thorough clinical evaluation by a neurologist or geneticist is essential to diagnose CANVAS. The evaluation includes medical history, family history, and a neurological examination to rule out other disorders [9].
• Imaging Studies: Imaging studies such as MRI may be necessary to confirm the diagnosis of CANVAS. These studies can help identify changes in the brain and cerebellum associated with this condition.

Other Diagnostic Tests:

• Microsatellite Instability Testing (MSI): MSI testing is a diagnostic test that can be used to rule out other genetic disorders [5].
• Targeted Variant Analysis: This test can also be used to identify mutations in the RFC1 gene associated with CANVAS [8].

References:

[6] A DNA test for Friedreich ataxia, an autosomal recessive disorder, can be ordered separately (Online Test Guide Lab Mnemonic Friedreich's Ataxia DNA [FRDAX]).

[5] Microsatellite instability testing (MSI) is a diagnostic test that can be used to rule out other genetic disorders.

[8] Targeted variant analysis is a diagnostic test that can be used to identify mutations in the RFC1 gene associated with CANVAS.

[9] Clinical evaluation by a neurologist or geneticist is essential to diagnose CANVAS.

Based on the provided context, it appears that there are some potential treatment options for autosomal recessive spinocerebellar ataxia 27 (SCA27). However, it's essential to note that these treatments may not be specifically tailored for SCA27.

• Riluzole: A clinical trial has shown the effectiveness of riluzole in treating several etiologies of autosomal dominant SCA, but its efficacy in SCA27 is unknown [3].
• 4-AP (Potassium Channel Blocker): This medication may improve symptoms in SCA27 by restoring the rhythmic firing property of cerebellar Purkinje cells. However, more research is needed to confirm its effectiveness [5].
• N-Acetyl-Leucine: Published case series studies have demonstrated the effects of acute treatment with N-Acetyl-Leucine for inherited cerebellar ataxias, but its specific efficacy in SCA27 is unclear [8].

It's also worth noting that treatments are available for a few autosomal recessive ataxias, such as Vitamin E therapy for AVED and chenodeoxycholic acid for cerebrotendinous xanthomatosis. However, these treatments may not be directly applicable to SCA27.

In summary, while there are some potential treatment options for spinocerebellar ataxia 27, more research is needed to determine their specific efficacy in this condition.

References: [3] Bushart DD (2016) - Cited by 45 [5] Pellerin D (2024) - Cited by 15 [8] - Published case series studies

The differential diagnosis for autosomal recessive spinocerebellar ataxia 27 (SCA27) involves excluding other conditions that may present with similar symptoms.

According to the provided context, SCA27 is a slowly progressive, autosomal dominant cerebellar ataxia caused by a mutation in the FGF14 gene [12]. To diagnose SCA27, a neurologic examination can determine whether a person has symptoms typical of SCA27B. This suspected diagnosis is then confirmed through genetic testing.

Other conditions that may be considered in the differential diagnosis for SCA27 include:

• Friedreich Ataxia: an autosomal recessive disorder that affects the dorsal and spinocerebellar tracts, causing impaired proprioception, vibration, and depressed tendon reflexes [5].
• Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay (ARSACS): caused by mutations in the sacsin gene, which shows a carrier frequency of 1/21 in French Canadian populations [9].
• Other autosomal recessive ataxias: such as those listed in Table 1, which includes 59 primary recessive ataxias, including 15 disorders that are more prevalent and widely distributed [13].

It's essential to note that the diagnosis of SCA27 requires a comprehensive evaluation, including genetic testing, to confirm the presence of the FGF14 gene mutation.

References: [5] - Friedreich Ataxia [9] - Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay (ARSACS) [12] - SCA27 caused by a mutation in the FGF14 gene [13] - Table 1, listing 59 primary recessive ataxias