Ataxia

Sheng-Han Kuo, MD p. 1036-1054 August 2019, Vol.25, No.4 doi: 10.1212/CON.0000000000000753
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PURPOSE OF REVIEW: This article reviews the symptoms, laboratory and neuroimaging diagnostic tests, genetics, and management of cerebellar ataxia.

RECENT FINDINGS: Recent advances in genetics have led to the identification of novel genetic causes for ataxia and a more comprehensive understanding of the biological pathways critical for normal cerebellar function. When these molecular pathways become dysfunctional, patients develop cerebellar ataxia. In addition, several ongoing clinical trials for Friedreich ataxia and spinocerebellar ataxia will likely result in novel symptomatic and disease-modifying therapies for ataxia. Antisense oligonucleotides for spinocerebellar ataxias associated with CAG repeat expansions might be a promising therapeutic strategy.

SUMMARY: Cerebellar ataxias include heterogeneous disorders affecting cerebellar function, leading to ataxic symptoms. Step-by-step diagnostic workups with genetic investigations are likely to reveal the underlying causes of ataxia. Some disease-specific therapies for ataxia exist, such as vitamin E for ataxia with vitamin E deficiency and thiamine for Wernicke encephalopathy, highlighting the importance of recognizing these forms of ataxia. Finally, genetic diagnosis for patients with ataxia will accelerate clinical trials for disease-modifying therapy and will have prognostic value and implications for family planning for these patients.

Address correspondence to Dr Sheng-Han Kuo, 650 West 168th St, Room 305, New York, NY 10032, sk3295@columbia.edu.

RELATIONSHIP DISCLOSURE: Dr Kuo has received personal compensation for serving on the medical advisory board of the International Essential Tremor Foundation and on the research advisory board of the National Ataxia Foundation. Dr Kuo has received research/grant support from the American Brain Research Training Fellowship, American Parkinson Disease Association, International Essential Tremor Foundation, the Louis V. Gerstner Jr Scholarship, National Ataxia Foundation, for the National Institute of Environmental Health Sciences pilot grant ES009089, as principal investigator for studies from the National Institute of Neurological Disorders and Stroke (R01 NS104423, K08 NS083738), Parkinson’s Foundation, and the Rare Disease Clinical Research Network (RC1NS068897).

UNLABELED USE OF PRODUCTS/INVESTIGATIONAL USE DISCLOSURE: Dr Kuo discusses the unlabeled/investigational use of amantadine, baclofen, chlorzoxazone, and riluzole for the treatment of cerebellar ataxia; 4-aminopyridine for the treatment of episodic ataxia type 2; deep brain stimulation for the treatment of spinocerebellar ataxia type 2; miglustat for the treatment of Niemann-Pick disease type C; and varenicline for spinocerebellar ataxia type 3.

© 2019 American Academy of Neurology.