| Title: |
Overview of the clinical approach to individuals with cerebellar ataxia and neuropathy |
| Authors: |
Roberts, LJ; McVeigh, M; Seiderer, L; Harding, IH; Corben, LA; Delatycki, M; Szmulewicz, DJ |
| Publisher Information: |
LIPPINCOTT WILLIAMS & WILKINS |
| Publication Year: |
2022 |
| Collection: |
The University of Melbourne: Digital Repository |
| Description: |
Increasingly, cerebellar syndromes are recognized as affecting multiple systems. Extracerebellar features include peripheral neuropathies affecting proprioception; cranial neuropathies such as auditory and vestibular; and neuronopathies, for example, dorsal root and vestibular. The presence of such features, which in and of themselves may cause ataxia, likely contribute to key disabilities such as gait instability and falls. Based on the evolving available literature and experience, we outline a clinical approach to the diagnosis of adult-onset ataxia where a combination of cerebellar and peripheral or cranial nerve pathology exists. Objective diagnostic modalities including electrophysiology, oculomotor, and vestibular function testing are invaluable in accurately defining an individual's phenotype. Advances in MRI techniques have led to an increased recognition of disease-specific patterns of cerebellar pathology, including those conditions where neuronopathies may be involved. Depending on availability, a stepwise approach to genetic testing is suggested. This is guided by factors such as pattern of inheritance and age at disease onset, and genetic testing may range from specific genetic panels through to whole-exome and whole-genome sequencing. Management is best performed with the involvement of a multidisciplinary team, aiming at minimization of complications such as falls and aspiration pneumonia and maximizing functional status. |
| Document Type: |
article in journal/newspaper |
| Language: |
English |
| ISSN: |
2376-7839 |
| Relation: |
Roberts, L. J., McVeigh, M., Seiderer, L., Harding, I. H., Corben, L. A., Delatycki, M. & Szmulewicz, D. J. (2022). Overview of the clinical approach to individuals with cerebellar ataxia and neuropathy. Neurology Genetics, 8 (5), https://doi.org/10.1212/NXG.0000000000200021.; https://hdl.handle.net/11343/320074 |
| Availability: |
https://hdl.handle.net/11343/320074 |
| Rights: |
https://creativecommons.org/licenses/by-nc-nd/4.0 ; CC BY-NC-ND |
| Accession Number: |
edsbas.97D0D552 |
| Database: |
BASE |