Autosomal dominant cerebellar ataxia represents a group of heterogeneous neurodegenerative diseases inherited in an autosomal dominant manner.
The term « autosomal dominant » refers to a genetic condition where a person inherits two copies of a gene mutation from each parent. This causes the disease to run in families. In most cases, the symptoms appear early in life and worsen over time.
Nearly twenty mutated genes have already been identified.
It typically causes a deterioration of the nervous system, especially the neurons of the cerebellum.
The cerebellum is part of the brain located behind the skull. It is responsible for coordination and balance. It controls movement and posture.
Because MRI is able to detect lesions that are the primary cause of ataxia, it is used to assess patients. CT scans can also be used to visualize neuronal deterioration.
Degeneration occurs at the cellular level and results in cell death most of the time
Cell death or dysfunction in the central nervous system causes a lack of communication between the central nervous system and target muscles in the body.
Symptoms of autosomal dominant cerebellar ataxia usually appear in adulthood and include:
- loss of movement coordination caused by damage to the brain, basal ganglia, medulla, and certain cranial nerves;
- a disturbance in the direction and amplitude of voluntary movements;
- speech disturbance;
- disruption of muscle contractions needed for balance and walking;
- episodes of altered consciousness.
The diagnosis of autosomal dominant cerebellar ataxia is made from the patient’s clinical history, previous health examinations, ongoing physical examination to detect any physical abnormalities, genetic screening of the patient’s genes, and study of the family genealogy.