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The term ataxia refers to a combination of symptoms and signs that result from damage to the cerebellum. Ataxia is not a diagnosis as it is caused by diverse conditions. Clinical history and examination dictate appropriate investigations, and with experience this is a rewarding approach to diagnosis. A case report in this issue highlights the importance of this clinical approach.1 The authors based their diagnosis of cerebrotendinous xanthomatosis (CTX) on the clinical observation of tendon xanthomata, early-onset cataracts and ataxia. Indeed, most of our patients with CTX attending the Sheffield Ataxia Centre were first diagnosed clinically and confirmed by the presence of raised serum cholestanol (without genetic testing). However, over the last 3 years, patients with a new diagnosis of CTX, made elsewhere and referred to our unit for management, have been diagnosed on the basis of genetic testing using next-generation sequencing with large panels of ataxia genes. Such panels can include up to 175 ataxia genes and any neurologist can request them.
This approach poses the following question: are we likely to become deskilled in the use of our clinical …
Contributors The editorial was commissioned by PN and written by MH.
Funding The authors have not declared a specific grant for this research from any funding agency in the public, commercial or not-for-profit sectors.
Competing interests None declared.
Provenance and peer review Commissioned. Externally peer reviewed by Simon Hammans, Southampton, UK.
- Editors’ commentary
- Neurological rarities
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