spinocerebellar ataxia type 10

Spinocerebellar ataxia type 10 (SCA10) is a rare, inherited neurodegenerative disorder characterized by slowly progressive cerebellar ataxia.

Key Features:

• Cerebellar Ataxia: SCA10 typically starts with poor balance and unsteady gait, followed by upper-limb ataxia [10].
• Slow Progression: The disease progresses slowly over time, affecting various parts of the nervous system.
• Autosomal Dominant Inheritance: SCA10 is inherited in an autosomal dominant pattern, meaning a single copy of the mutated gene is enough to cause the condition.

Symptoms:

• Involuntary Eye Movements: Patients may experience involuntary eye movements and poor hand-eye coordination [15].
• Balance and Coordination Problems: Balance and coordination difficulties are common symptoms, often accompanied by slurred speech.
• Epilepsy and Neuropsychological Symptoms: Some individuals with SCA10 may also experience epilepsy, mild pyramidal signs, peripheral neuropathy, and neuropsychological symptoms.

Causes:

• Genetic Defects: SCA10 is caused by genetic defects that lead to impairment of specific nerve fibers carrying messages to and from the brain [11][14].
• Large Expansion of ATTCT Repeat: The mutation responsible for SCA10 involves a large expansion of the ATTCT repeat in the NAIP gene.

References:

[10] Matsuura, T. (2019). SCA10 is characterized by slowly progressive cerebellar ataxia that usually starts as poor balance and unsteady gait, followed by upper-limb ataxia, scanning speech, and other symptoms. Cited by 24.

[11] Ashizawa, T. (2012). SCA10 is an autosomal dominant neurodegenerative disorder with cerebellar ataxia caused by genetic defects that lead to impairment of specific nerve fibers carrying messages to and from the brain. Cited by 21.

[14] As in other inherited ataxias, SCA10 is caused by genetic defects that lead to impairment of specific nerve fibers carrying messages to and from the brain.

[15] Involuntary eye movements, poor hand-eye coordination, problems with balance and coordination, slurred speech, trouble processing and remembering information are common symptoms of SCA10.

Spinocerebellar ataxia type 10 (SCA10) is a rare genetic disorder that affects the cerebellum, leading to various signs and symptoms. Based on the available information, here are some of the common signs and symptoms associated with SCA10:

• Involuntary eye movements: People with SCA10 may experience involuntary eye movements, which can be a sign of the disease's impact on the brain (1).
• Poor hand-eye coordination: Individuals with SCA10 may struggle with hand-eye coordination, making everyday activities like walking or using utensils challenging (1).
• Problems with balance and coordination: SCA10 can cause problems with balance and coordination, leading to difficulties with walking, standing, or maintaining posture (1, 5).
• Slurred speech: Some people with SCA10 may experience slurred speech due to the disease's impact on the brain's motor control systems (1, 7).
• Trouble processing and remembering information: Individuals with SCA10 may have trouble processing and remembering information, which can affect their daily lives (1).

In addition to these symptoms, some individuals with SCA10 may experience:

• Mood disorders: People with SCA10 may be more prone to mood disorders, such as depression or anxiety (2).
• Peripheral neuropathy: Some individuals with SCA10 may develop peripheral neuropathy, which can cause weakness or loss of feeling in the feet, legs, or hands (2).

It's essential to note that these symptoms can vary in severity and impact from person to person. If you suspect you or someone else has SCA10, it's crucial to consult with a healthcare professional for an accurate diagnosis and guidance.

References: (1) Context result 1 (2) Context result 2

Spinocerebellar ataxia type 10 (SCA10) is a rare genetic disorder that affects the cerebellum, leading to progressive ataxia and other neurological symptoms. Diagnostic tests for SCA10 are crucial in

Spinocerebellar ataxia type 10 (SCA10) is a rare genetic disorder that affects the cerebellum, leading to progressive symptoms such as ataxia, epilepsy, and other neurological problems. While there is no specific treatment to delay or halt the progression of SCA10, medication may help control seizures.

Medications for Seizure Control

• Conventional anticonvulsants have been used to manage seizures associated with SCA10 [4].
• Riluzole, a potassium channel activator, has shown promise in clinical trials for multiple SCAs, including SCA10 [6].

Other Potential Therapies

• Botulinum toxin injections may be considered to alleviate symptoms such as muscle spasms and tremors.
• Physical and occupational therapy can help manage ataxia and other motor symptoms.

It's essential to note that these treatments are not specific to SCA10 and may have varying degrees of effectiveness. A healthcare professional should be consulted for personalized medical advice and treatment.

References: [4] - Although there is no specific treatment to delay or halt the progression of SCA10, medication may help to control the seizures. [6] - Clinical trials with drugs such as riluzole, a potassium channel activator, show promise for multiple SCAs and suggest that convergent disease mechanisms do exist.

Spinocerebellar ataxia type 10 (SCA10) is a rare genetic disorder characterized by slowly progressive cerebellar ataxia, which typically starts as poor balance and unsteady gait, followed by upper-limb ataxia, scanning speech, and other symptoms.

Differential Diagnosis

The differential diagnosis of SCA10 involves distinguishing it from other spinocerebellar ataxias (SCAs) and other