spinocerebellar ataxia type 31

Spinocerebellar ataxia type 31 (SCA31) is a rare neurodegenerative disorder that affects the cerebellum, leading to progressive ataxia.

Characteristics:

• Adult-onset: SCA31 typically manifests in adulthood, with an average age of onset around 60 years old [1].
• Slowly progressive: The disease progresses slowly over time, with a gradual decline in motor function and coordination.
• Pure cerebellar syndrome: SCA31 is characterized by a relatively pure form of ataxia, meaning that it primarily affects the cerebellum and its connections [2][5].
• Cerebellar signs: The disease presents with various cerebellar symptoms, including:
  • Ataxia (loss of coordination and balance)
  • Dysarthria (speech difficulties)
  • Oculomotor dysfunction (eye movement problems) [2][5]
• Autosomal dominant inheritance: SCA31 is inherited in an autosomal dominant pattern, meaning that a single copy of the mutated gene is sufficient to cause the disease [3][7][8].

References:

[1] K Ishikawa · 2023 · Cited by 7 — Clinical features of SCA31 were summarized as, late-onset (average around 60 years old), slowly progressive ataxia.

[2] J Saucier · 2023 · Cited by 10 — SCA31 is described as a slowly progressive pure cerebellar syndrome characterized by cerebellar signs such as ataxia, dysarthria and oculomotor dysfunction.

[3] Spinocerebellar ataxia type 31 (SCA31) is an adult-onset autosomal dominant neurodegenerative disorder showing progressive cerebellar ataxia mainly ...

[4] by T Ishiguro · 2021 · Cited by 12 — Spinocerebellar ataxia type 31 (SCA31) is a progressive neurodegenerative disease characterized by degeneration of Purkinje cells in the cerebellum.

[5] J Saucier · 2023 · Cited by 10 — SCA31 is described as a slowly progressive pure cerebellar syndrome characterized by cerebellar signs such as ataxia, dysarthria and oculomotor dysfunction.

[6] by J Saucier · 2023 · Cited by 10 — SCA31 is an autosomal dominant neurodegenerative disorder characterized by a late-onset, progressive, relatively pure cerebellar form of ataxia.

[7] Spinocerebellar ataxia type 31 (SCA31) is an adult-onset autosomal dominant neurodegenerative disorder showing progressive cerebellar ataxia ...

[8] by J Saucier · 2023 · Cited by 10 — Spinocerebellar ataxia type 31 (SCA31) is an autosomal dominant disease, classified amongst pure cerebellar ataxias (ADCA type 3).

Spinocerebellar ataxia type 31 (SCA31) is a rare autosomal dominant neurodegenerative disorder that primarily affects the cerebellum, leading to progressive cerebellar ataxia. The signs and symptoms of SCA31 can vary from person to person but often include:

• Progressive ataxia: A gradual decline in coordination and balance, affecting gait, stance, and limb movements.
• Dysarthria: Difficulty speaking due to muscle weakness or coordination problems.
• Horizontal gaze nystagmus: Uncontrolled eye movements when looking sideways.
• Pyramidal tract signs: Weakness or stiffness in the arms and legs.
• Tremor: Shaking or trembling of the hands, arms, or other body parts.
• Decreased vibration sense: Reduced sensitivity to vibrations in the skin.
• Hearing difficulties: Problems with hearing or decreased auditory acuity.

These symptoms can occur at any age but typically begin in adulthood, around 58 years old on average. However, they may start earlier or later in life, and their progression can vary significantly from person to person [10][12].

It's essential to note that SCA31 is a rare condition, and its symptoms might be similar to those of other neurodegenerative disorders. A proper diagnosis by a healthcare professional, often involving genetic testing, is necessary for an accurate identification of the disease [3][5].

Spinocerebellar ataxia type 31 (SCA31) can be diagnosed based on the expansion of a non-coding pentanucleotide repeat in the BEAN1 gene. The diagnostic methods involve genetic testing, which can be performed using various techniques such as PCR (polymerase chain reaction).

• Genetic Testing: Genetic tests are available for SCA31, and they typically involve analyzing the DNA sequence of the BEAN1 gene to detect the expansion of the pentanucleotide repeat. This test is usually offered by genetic testing laboratories, such as Fulgent Genetics.
• Pentanucleotide Repeat-Primed PCR: A specific technique called pentanucleotide repeat-primed PCR can be used for genetic diagnosis of SCA31 (Ishige et al., 2012). This method involves using primers that are complementary to the expanded repeat sequence, allowing for the amplification and detection of the repeat expansion.
• Clinical Genetic Test: A clinical genetic test is available for conditions including SCA31. This test includes testing genes such as BEAN1 (16q21) and can be offered by laboratories like Fulgent Genetics.

It's essential to consult with a healthcare professional or a genetic counselor to discuss the diagnostic options and determine the best course of action for an individual suspected of having SCA31.

References: [3] [5]

Current Treatment Options for Spinocerebellar Ataxia Type 31 (SCA31)

Spinocerebellar ataxia type 31 (SCA31) is a progressive neurodegenerative disease characterized by degeneration of Purkinje cells in the cerebellum. While there is no cure for SCA31, various treatment options are available to manage its symptoms and slow down disease progression.

• Supportive Care: Physical therapy, occupational therapy, and speech therapy can help improve mobility, balance, and communication skills [1]. The use of canes, walkers, and other assistive devices can also be beneficial.
• Medications: Potential therapies such as medications, botulinum toxin, and riluzole may be considered to alleviate symptoms [

Spinocerebellar ataxia type 31 (SCA31) is a rare autosomal dominant disorder characterized by progressive cerebellar degeneration, leading to symptoms such as ataxia, dysarthria, and oculomotor dysfunction. When considering the differential diagnosis of SCA31, it's essential to rule out other types of autosomal dominant cerebellar ataxias (ADCA).

Other forms of ADCA:

• SCA31 is often confused with other forms of ADCA due to its similar symptoms and inheritance pattern.
• However, SCA31 has a distinct clinical presentation, including pure cerebellar signs without extracerebellar features.

Key differences from other SCAs:

• Unlike some other SCAs, SCA31 is characterized by a slowly progressive course with minimal extracerebellar involvement.
• The disease typically presents in adulthood, and the progression of symptoms can be slow over several years.

Genetic counseling:

• Genetic counseling is possible for individuals suspected to have SCA31 due to its autosomal dominant inheritance pattern.
• This allows for informed decision-making regarding family planning and genetic testing for at-risk relatives.

Differential diagnosis considerations:

• Clinicians should consider SCA31 in the differential diagnosis of autosomal dominant ataxia, particularly when presented with a pure cerebellar syndrome.
• A thorough clinical evaluation, including a detailed medical history and physical examination, is crucial to differentiate SCA31 from other forms of ADCA.

References:

• [3] describes SCA31 as a slowly progressive pure cerebellar syndrome characterized by ataxia, dysarthria, and oculomotor dysfunction.
• [4] emphasizes the importance of considering SCA31 in the differential diagnosis of autosomal dominant ataxia.
• [9] classifies SCA31 amongst pure cerebellar ataxias (ADCA type 3).