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Autosomal recessive cerebellar ataxia type 1 – Abstract
Autosomal recessive cerebellar ataxia type 1 (ARCA1) is a condition characterized by progressive problems with movement. Signs and symptoms of the disorder first appear in early to mid-adulthood. People with this condition initially experience impaired speech (dysarthria), problems with coordination and balance (ataxia), or both. They may also have difficulty with movements that involve judging distance or scale (dysmetria). Other features of ARCA1 include abnormal eye movements (nystagmus) and problems following the movements of objects with their eyes. The movement problems are slowly progressive, often resulting in the need for a cane, walker, or wheelchair.
Autosomal recessive cerebellar ataxia type 1 – Presentation
Most cases of autosomal recessive cerebellar ataxia are early onset, usually around the age of 20. People with this type of ataxia share many characteristic symptoms including:
- frequent falls due to poor balance
- imprecise hand coordination
- postural or kinetic tremor of extremities or trunk
- dysarthria
- dysphasia
- vertigo
- diplopia
- lower extremity tendon reflexes
- dysmetria
- minor abnormalities in ocular saccades
- attention defects
- impaired verbal working memory and visuospatial skills
- Normal life expectancy
Autosomal recessive ataxias are generally associated with a loss of proprioception and vibration sense. Arreflexia is more common in autosomal recessive ataxia than autosomal dominant ataxias. Also, they tend to have more involvement outside of the nervous system. Mutations in subunit of the mitochondrial DNA polymerase (POLG) have been found to be a potential cause of autosomal recessive cerebellar ataxia.