ATXN1
ATXN1[edit | edit source]
ATXN1 (Ataxin-1) is a protein encoded by the ATXN1 gene in humans. It is primarily known for its role in the development of spinocerebellar ataxia type 1 (SCA1), a progressive neurodegenerative disorder characterized by loss of coordination and balance. The ATXN1 gene is located on chromosome 6p23.
Structure[edit | edit source]
The ATXN1 protein contains several important domains, including a polyglutamine tract, which is a sequence of glutamine amino acids. The length of this tract is variable and is associated with the pathogenesis of SCA1. Normal alleles typically have 6-44 repeats, while pathogenic alleles have 39 or more repeats.
Function[edit | edit source]
ATXN1 is involved in various cellular processes, including transcriptional regulation and RNA processing. It interacts with other proteins, such as Capicua, to modulate gene expression. The exact physiological role of ATXN1 is not fully understood, but it is believed to play a role in the development and function of the central nervous system.
Pathology[edit | edit source]
Mutations in the ATXN1 gene, particularly expansions of the CAG repeat in the coding region, lead to the production of an abnormally long polyglutamine tract in the ATXN1 protein. This results in protein misfolding and aggregation, which are toxic to neurons, particularly in the cerebellum and brainstem. The accumulation of these aggregates disrupts normal cellular functions, leading to the symptoms of SCA1.
Clinical Manifestations[edit | edit source]
Patients with SCA1 typically present with:
- Progressive ataxia
- Dysarthria (difficulty speaking)
- Dysphagia (difficulty swallowing)
- Nystagmus (involuntary eye movements)
- Cognitive impairments in some cases
Diagnosis[edit | edit source]
Diagnosis of SCA1 is confirmed through genetic testing, which identifies the expanded CAG repeat in the ATXN1 gene. Clinical evaluation and family history are also important components of the diagnostic process.
Treatment[edit | edit source]
Currently, there is no cure for SCA1. Treatment is symptomatic and supportive, focusing on improving quality of life. Physical therapy, occupational therapy, and speech therapy can help manage symptoms. Research is ongoing to find disease-modifying therapies.
Also see[edit | edit source]
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Contributors: Prab R. Tumpati, MD
