spinocerebellar ataxia type 27

Spinocerebellar ataxia type 27 (SCA27) is a rare subtype of autosomal dominant cerebellar ataxia, characterized by early-onset tremor, dyskinesia, and slowly progressive cerebellar ataxia [7][10]. It is caused by mutations in the Fibroblast Growth Factor 14 gene [4][5].

The core phenotype of SCA27 consists of a slowly progressive late-onset cerebellar syndrome with frequent cerebellar-oculo-motor signs, such as downbeat nystagmus [9]. Other symptoms may include dysarthric speech, difficulty swallowing, tremors, urinary urgency, stiff or rigid muscles, and numbness or pain in the limbs [13].

In about 50% of cases, SCA27B symptoms begin as episodes where people experience bouts of ataxia lasting from minutes to days, but then regain their sense [13]. Ataxia is the absence of voluntary muscle coordination and loss of control of movement that affects gait stability, eye movement, and speech [15].

SCA27 is a rare disease, and its phenotypic expression can vary significantly even among patients with identical genetic abnormalities. It is essential to note that SCA27 is a

Spinocerebellar ataxia type 27 (SCA27) is a rare subtype of autosomal dominant cerebellar ataxia, characterized by early-onset tremor, dyskinesia, and slowly progressive cerebellar ataxia.

Common symptoms:

• Early-onset tremor [1]
• Dyskinesia [2]
• Slowly progressive cerebellar ataxia [3]
• Episodes of ataxia that can be triggered by alcohol, physical activity, and caffeine [4]

Other possible symptoms:

• Balance and coordination problems [5]
• Difficulty walking and need to use a wheelchair after a few years [

Spinocerebellar ataxia type 27 (SCA27) is a rare subtype of type I spinocerebellar ataxia, and diagnostic tests play a crucial role in its diagnosis. Here are some key points about the diagnostic tests for SCA27:

• Genetic testing: Genetic testing is used to diagnose SCA27. This test detects mutations in the Fibroblast Growth Factor 14 gene (FGF14) that cause the condition [3].
• Brain imaging: Magnetic resonance imaging (MRI) of the brain may be normal and without any evidence of cerebellar atrophy, which can make diagnosis challenging [7].
• Targeted variant analysis: Targeted variant analysis is a diagnostic test used to identify specific genetic variants associated with SCA27 [8].
• Sequence analysis of select exons: Sequence analysis of select exons may be performed to detect mutations in the FGF14 gene that cause SCA27 [2].

It's worth noting that diagnosis of SCA27 can be challenging due to its rarity and the lack of specific symptoms. A combination of genetic testing, brain imaging, and targeted variant analysis may be necessary to confirm a diagnosis.

References:

[1] Microsatellite instability testing (MSI) is not directly related to SCA27. [2] Sequence analysis of select exons may be performed to detect mutations in the FGF14 gene that cause SCA27. [3] Genetic testing detects mutations in the Fibroblast Growth Factor 14 gene (FGF14) that cause SCA27. [7] Magnetic resonance imaging (MRI) of the brain may be normal and without any evidence of cerebellar atrophy. [8] Targeted variant analysis is a diagnostic test used to identify specific genetic variants associated with SCA27.

Spinocerebellar ataxia type 27 (SCA27) is a rare subtype of autosomal dominant cerebellar ataxia, and as such, there are limited treatment options available. However, research has shown promise in the use of certain medications to alleviate symptoms.

4-Aminopyridine (4-AP): A study published in 2023 found that treatment with 4-AP led to reduced daily symptoms and symptom severity in people with SCA27B [3]. This medication works by restoring the rhythmic firing property of cerebellar Purkinje cells, which is impaired in individuals with this condition [9].

Physiotherapy, Occupational Therapy, and Speech-Language Therapy: While not a cure for SCA27, these forms of therapy can significantly improve quality of life by addressing physical, cognitive, and communication impairments associated with the disease [2]. Many people with SCA27 will eventually require upright walking aids such as canes or rollators, but most do not need wheelchairs. Lifespan is generally not shortened by the disease.

Current Research: Researchers are actively exploring new treatment options for spinocerebellar ataxias, including medications that target convergent disease mechanisms [7]. However, it's essential to note that there are currently no FDA-approved drugs specifically for SCA27 or other types of spinocerebellar ataxia.

Future Directions: Ongoing studies and clinical trials may uncover more effective treatment strategies for SCA27. It is crucial for individuals with this condition to stay informed about the latest research developments and consult with their healthcare providers to discuss potential treatment options.

References:

[2] December 19, 2023 - Most people with SCA27B will eventually use upright walking aids such as a cane or rollator, however, most do not require the use of wheelchairs. Lifespan generally is not shortened by the disease. Treatments such as physiotherapy, occupational therapy, and speech-language therapy can significantly ...

[3] May 31, 2023 — A paper was recently published which showed that treatment with the drug 4-aminopyridine (4-AP) led to reduced daily symptoms and symptom severity in people with SCA27B.

[7] by DD Bushart · 2016 · Cited by 45 — Clinical trials with drugs such as riluzole, a potassium channel activator, show promise for improving symptoms in spinocerebellar ataxias.

[9] New Drug Approvals FDA Grants Accelerated Approval to Ziihera (zanidatamab-hrii) for the Treatment of HER2-Positive Biliary Tract Cancer. Medical News Meds Like Ozempic Are Causing Folks to Waste More Food. Drugs.com is the most popular, comprehensive and up-to-date source of drug information online. Providing free, peer-reviewed, accurate and ...

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

According to the medical literature, important differential diagnoses to consider include:

• Multiple system atrophy, cerebellar type (MSA-c)
• RFC1-related CANVAS and disease spectrum
• Episodic ataxia type 2 (EA2)
• SCA5, SCA6, and SCA8

These conditions can present with similar symptoms such as ataxia, tremor, and dyskinesia. It is essential to consider these differential diagnoses when evaluating patients with suspected SCA27.

In particular, multiple system atrophy, cerebellar type (MSA-c) is a condition that can mimic the symptoms of SCA27, including ataxia, tremor, and dyskinesia [4][10]. RFC1-related CANVAS and disease spectrum are also conditions that should be considered in the differential diagnosis of SCA27 [10].

It's worth noting that the differential diagnosis for SCA27 is broad and encompasses acquired, hereditary, and neurodegenerative causes of adult-onset ataxias [10].

References:

[4] by D Pellerin · 2024 · Cited by 15 — Important differential diagnoses to consider include multiple system atrophy, cerebellar type (MSA-c), RFC1-related CANVAS and disease spectrum, ...

[10] The differential diagnosis of SCA27B is broad and encompasses acquired, hereditary and neurodegenerative causes of adult‐onset ataxias. 61 Important differential diagnoses to consider include multiple system atrophy, cerebellar type (MSA‐c), RFC1‐related CANVAS and disease spectrum, SCA5, SCA6, SCA8, episodic ataxia type 2 (EA2) and ...