Neurodegenerative Cerebellar Ataxia

Liana S. Rosenthal, MD, PhD Movement Disorders p. 1409-1434 October 2022, Vol.28, No.5 doi: 10.1212/CON.0000000000001180
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PURPOSE OF REVIEW Neurodegenerative cerebellar ataxia is a diverse collection of diseases that are unified by gait and balance abnormalities, appendicular incoordination, and abnormalities of eye movement and speech. The differential diagnosis is broad, ranging from paraneoplastic syndromes that progress quite rapidly to unidentified genetic disorders that progress slowly over the course of decades. This article highlights the diagnostic process, including the differential diagnosis, as well as treatment approaches and symptomatic management. The pillars of treatment are physical, occupational, and speech therapy as well as counseling and discussions of disease prognosis, genetics, and reproductive choices. There are many ways to help patients with neurodegenerative cerebellar ataxia and improve their quality of life.

RECENT FINDINGS Recent years have seen significant improvements in genetic testing, with reductions in cost of both Sanger sequencing and whole exome sequencing and increasing availability of the latter. These improvements increase clinicians’ ability to identify the etiology of neurodegenerative cerebellar ataxia and suggest future treatments. Although no medication has been approved by the US Food and Drug Administration (FDA) for treatment of cerebellar ataxia, research and clinical trials for these diseases are increasing.

SUMMARY Neurodegenerative cerebellar ataxia is characterized by dysarthria, dysmetria, oculomotor abnormalities, and ataxic gait. It has a broad differential diagnosis, and numerous options exist for managing symptoms. Although no medications have been approved specifically for cerebellar ataxia, treatment options are available to improve patients’ quality of life.

Address correspondence to Dr Liana S. Rosenthal, Johns Hopkins Neurology, 10751 Falls Rd, Ste 250, Lutherville, MD, 21093, [email protected].

RELATIONSHIP DISCLOSURE: Dr Rosenthal has received personal compensation in the range of $500 to $4999 for serving as a consultant for Biohaven Pharmaceuticals and on a scientific advisory or data safety monitoring board for Reata Pharmaceuticals, Inc; has received research support from Biohaven Pharmaceuticals, The Daniel B. and Florence E. Green Foundation, the Gordon and Marilyn Macklin Foundation, The Michael J. Fox Foundation, the National Ataxia Foundation, the National Institutes of Health, and Pfizer Inc; and has a noncompensated relationship as a Medical Director, ex-officio Member of the Board with National Ataxia Foundation that is relevant to American Academy of Neurology interests or activities.

UNLABELED USE OF PRODUCTS/INVESTIGATIONAL USE DISCLOSURE: Dr Rosenthal discusses the unlabeled/investigational use of medications for the treatment of neurodegenerative spinocerebellar ataxias, none of which are approved by the US Food and Drug Administration.

© 2022 American Academy of Neurology.