Diagnosis and management of progressive ataxia in adults.
Progressive ataxia in adults can be difficult to diagnose, owing to its heterogeneity and the rarity of individual causes. Many patients remain undiagnosed ('idiopathic' ataxia). This paper provides suggested diagnostic pathways for the general neurologist, based on Ataxia UK's guidelines for professionals. MR brain scanning can provide diagnostic clues, as well as identify 'structural' causes such as tumours and multiple sclerosis. Advances in molecular genetics, including the wider and cheaper availability of 'next-generation sequencing', have enabled clinicians to identify many more cases with a genetic cause. Finally, autoimmunity is probably an under-recognised cause of progressive ataxia: as well as patients with antigliadin antibodies there are smaller numbers with various antibodies, including some associated with cancer. There are a few treatable ataxias, but also symptomatic treatments to help people with the spectrum of complications that might accompany progressive ataxias. Multidisciplinary team involvement and allied health professionals' input are critical to excellent patient care, including in the palliative phase. We can no longer justify a nihilistic approach to the management of ataxia.
['de Silva|Rajith Nilantha|RN|', 'Vallortigara|Julie|J|', 'Greenfield|Julie|J|', 'Hunt|Barry|B|', 'Giunti|Paola|P|', 'Hadjivassiliou|Marios|M|']
D000328:Adult D001259:Ataxia D001921:Brain D005820:Genetic Testing D006801:Humans D009154:Mutation D013132:Spinocerebellar Degenerations D014202:Tremor
diagnosis and management progressive ataxia molecular genetics cerebellar disease immunity