Spinocerebellar Ataxia 42

Background and History: 

This is one of many hereditary neurological disorders that impacts mobility and other functions of daily life.

Clinical Correlations: 

Symptoms generally appear in midlife or later and consist primarily of gait problems.  It is slowly progressive but the ultimate disability level is mild to moderate in most individuals.  They may experience some swallowing difficulties and speech is slurred.  An unsteady gait (ataxia) is common.  Muscles in the limbs are tight (spastic) and reflexes are increased.  Mild cognitive impairment and depression are present in a minority of individuals.  Studies of the brain show some loss of cells in specific areas such as the cerebellum.


This is an autosomal dominant condition in which a gene change (mutation) in one member of a specific pair is present.  It follows a vertical pattern of transmission because the gene change is passed from parent to child with a 50% probability.

Diagnosis and Prognosis: 

Diagnosis of this disorder is most likely made by a neurologist.  There does not seem to be any impact on longevity.  No treatment is known.

Additional Information
Autosomal dominant