This condition is caused by abnormalities of the cerebellum, which is the hind part of the brain responsible for the coordination of movement. Thus children with this disorder have instability of sitting, standing and walking. There are many different causes of cerebellar ataxia some of which will be genetic in origin.
Genetic counselling is indicated for affected families.
Inheritance may be dominant, recessive or, rarely, X-linked. Over the past few years there has been a tremendous increase in our understanding of the genetics of the autosominal dominant cerebellar ataxias. Interestingly all these different genes have a very similar abnormality called an expansion which can be detected relatively simply using molecular methods. These tests can be used to accurately define the genetic cause in a number of families and having once established a cause it can lead to more accurate presymptomatic and prenatal testing if required. There are undoubtedly still more genes to be found in this rapidly changing field.