spinocerebellar ataxia type 8

Spinocerebellar ataxia type 8 (SCA8) is a slowly progressive neurodegenerative disease that affects the central nervous system. It is characterized by:

• Cerebellar ataxia: Problems with movement, balance, and coordination due to degeneration of the cerebellum.
• Dysarthria: Slow speech and difficulty articulating words.
• Gait instability: Trouble walking and maintaining balance.
• Eye movement abnormalities: Nystagmus (involuntary eye movements) and other abnormal eye movements.
• Cognitive dysfunction: Almost three-quarters of patients experience cognitive decline, including memory loss and difficulty with problem-solving.
• Pyramidal and sensory signs: Approximately a third of patients may experience muscle spasticity, reduced vibration sense, and other sensory abnormalities.

SCA8 is an autosomal dominant inherited disease, meaning that a single copy of the mutated gene is enough to cause the condition. The disease typically affects individuals in their third to fifth decade, but can range from before age one year to after age 60 years.

The symptoms of SCA8 are similar to other types of spinocerebellar ataxia and may progress over a period of several years. Early diagnosis and management by a healthcare professional are essential for improving quality of life and slowing disease progression.

References:

• [1] SCA8 is a slowly progressive ataxia with onset typically in the third to fifth decade but with a range from before age one year to after age 60 years. Common initial manifestations are scanning dysarthria with a characteristic drawn-out slowness of speech and gait instability.
• [2] Spinocerebellar Ataxia type 8 (SCA8) is one type of Ataxia among a group of inherited diseases of the central nervous system.
• [10] Summary. Spinocerebellar ataxia type 8 (SCA8) is an inherited neurodegenerative condition characterized by slowly progressive ataxia (problems with movement, balance, and coordination).
• [12] Spinocerebellar ataxia type 8 (SCA8) is a subtype of type I autosomal dominant cerebellar ataxia (ADCA type I) characterized by cerebellar ataxia and cognitive dysfunction in almost three quarters of patients.

Spinocerebellar ataxia type 8 (SCA8) is a subtype of autosomal dominant cerebellar ataxia characterized by cerebellar degeneration. The symptoms of SCA8 can vary in severity and progression, but typically include:

• Balance and coordination problems: Ataxia is often the first noticeable symptom, affecting gait, balance, and coordination [1].
• Muscle spasticity: Muscle stiffness or rigidity may accompany ataxia, leading to slowness of movement [2].
• Speech difficulties: Scanning dysarthria, a type of speech disorder characterized by slow and drawn-out speech, is common in SCA8 patients [3].
• Gait instability: Patients often experience difficulty walking, with a tendency to stumble or lose balance [4].
• Swallowing and eye movement problems: As the disease progresses, swallowing difficulties (dysphagia) and eye movement abnormalities may occur [5].

Other symptoms can include sensory impairment, sphincter dysfunction, oculomotor palsy, extra pyramidal symptoms, and cognitive decline [6]. The age of onset for SCA8 is typically between 35 to 40 years old, with a slow progression of the disease [7].

It's essential to note that each individual may experience a unique combination of symptoms, and the severity can vary greatly from person to person. A proper diagnosis by a healthcare professional is necessary for an accurate understanding of the condition.

References: [1] Context 2 [2] Context 5 [3] Context 4 [4] Context 7 [5] Context 6 [6] Context 9 [7] Context 8

Spinocerebellar ataxia type 8 (SCA8) can be diagnosed through various diagnostic tests, which are used to determine the presence or absence of the abnormal gene that causes SCA8. Here are some of the diagnostic tests for SCA8:

• DNA-based testing: This test determines the presence or absence of the abnormal gene that causes SCA8. However, the nature of the SCA8 gene makes the diagnosis more complex than in other SCAs [4][5].
• Deletion/duplication analysis: This test is used to detect deletions or duplications in the ATXN8OS gene, which can cause SCA8 [6].
• Microsatellite instability testing (MSI): This test is used to detect microsatellite instability, which can be a sign of genetic instability and potentially lead to SCA8 [1].
• Mutation scanning of select exons: This test is used to scan specific exons in the ATXN8OS gene for mutations that may cause SCA8 [4][6].

It's worth noting that DNA-based testing can define the genotypes of up to two thirds of patients with dominantly inherited SCAs, including SCA8 [9]. However, the diagnostic tests for SCA8 are complex and require specialized expertise.

References:

[1] Context result 6 [4] Context result 6 [5] Context result 14 [6] Context result 6 [9] Context result 9

Spinocerebellar ataxia type 8 (SCA8) is a rare genetic disorder that affects the cerebellum, leading to problems with coordination and movement. While there is no cure for SCA8, various

Spinocerebellar ataxia type 8 (SCA8) is a subtype of autosomal dominant cerebellar ataxia (ADCA) that presents with unexplained ataxia, which is part of the larger differential diagnosis of various neurological conditions.

Key Features:

• Unexplained ataxia
• Cerebellar atrophy on MRI imaging
• Gait and limb ataxia
• Involuntary eye movements
• Poor hand-eye coordination
• Problems with balance and coordination
• Slurred speech (dysarthria)
• Nystagmus

Differential Diagnosis:

SCA8 should be considered as a potential differential diagnosis for cases presenting with parkinsonian syndrome-like symptoms, especially if there are other family members to suggest an autosomal dominant inheritance pattern.

Other Conditions to Consider:

• Spinocerebellar ataxia (SCA) is a progressive, degenerative, genetic disease with multiple types, each of which could be considered a neurological condition.
• Other forms of spinocerebellar ataxia may present with similar symptoms, such as SCA1, SCA2, and SCA3.

References:

• [1] Individuals with spinocerebellar ataxia type 8 (SCA8) may present with unexplained ataxia that is part of the larger differential diagnosis of various neurological conditions.
• [2] Clinical manifestations of SCA8 include gait and limb ataxia and cerebellar atrophy on MRI imaging.
• [3] SCA8 should be considered as a potential differential diagnosis for PSP-like cases if there were other family members to suggest an autosomal dominant inheritance pattern.
• [4] Spinocerebellar ataxia type 8 is an uncommon genetic condition and presents with gait disturbances, ataxia, dysarthria, nystagmus, and other symptoms.