Azorean neurologic disease, also known as type 3 spinocerebellar ataxia, is a neurodegenerative disease. The neurons degrade due to the aggregation of misfolded protein ataxin-3. The cerebellum is the principal part of the brain affected due to the disease. It results in the loss of control and coordination of muscles in various parts, such as the legs, mouth, and eyes. The disease commonly occurs in the 40s.
There is no definitive cure for Azorean disease yet. However, there are treatment modalities to alleviate the symptoms and retain the quality of life of the patients.
1. Symptomatic therapies are:
- Anticonvulsants can decrease episodes of seizures.
- botulinum toxin injections can reduce dystonia
- Antidepressants for depression
- Levodopa can reduce parkinsonism-like symptoms.
- Tremors can be addressed with beta-blockers and primidone
2. Citalopram decreases the level of ataxin-3 and improves the behavioral status of patients.
3. Dantrolene inhibits the release of calcium from its stores and protects the Purkinje fibers.
4. Chlorzoxazone is an activator of calcium-activated potassium channels, which normalizes the electrophysiology and action potential firing of Purkinje cells.
5. Varenicline has shown improvement in cerebellar dysfunction in some SCA type-3 patients.
6. Rapamycin, an mTOR inhibitor, upregulates autophagy, one of the pathways that remove aggregated misfolded protein.
7. Neurorehabilitation and physical therapy are important to retain normal motor functions, including gait, postural balance, and physical strength. Occupational therapies help patients carry out daily chores easily and reduce their dependency.
Weakness in the arms or legs,Involuntary jerking,Cramping in hands and feet,Twitching of the facial muscles,Double vision,Bulging eyes, difficulty looking upward and opening eyes, and involuntary lateral movements of eye
Ataxia,Intranuclear inclusions of ataxin-3
Antiepileptic drugs for seizures,Botulinum toxin injections for dystonia,Beta-blockers and primidone for tremors,Antidepressants for depression,Levodopa for symptoms of parkinsonism,Citalopram, Dantrolene, Chlorzoxazone, Varenicline, Rapamycin