Nicholls, Z., Hobson, E., Martindale, J.A. et al. (1 more author) (2015) Diagnosis of spinal xanthomatosis by next-generation sequencing: identifying a rare, treatable mimic of hereditary spastic paraparesis. Practical Neurology, 15 (4). pp. 280-283. ISSN 1474-7758
Abstract
Cerebrotendinous xanthomatosis is an autosomal recessive disorder of bile acid metabolism causing a range of progressive neurological symptoms. Even in the presence of the classical triad of neurological dysfunction, tendon xanthoma and early onset cataracts, the diagnosis is often missed. It can mimic more common conditions such as hereditary spastic paraparesis or multiple sclerosis, particularly if the phenotype is spinal xanthomatosis where the disease causes a spastic paraplegia. Early recognition and treatment with chenodeoxycholic acid may prevent irreversible neurological damage. The introduction of next-generation sequencing to screen for a large number of genetic disorders associated with progressive spastic paraparesis will allow earlier identification and treatment of these patients and their families, and will particularly help in atypical cases such as the patient described here.
Metadata
Item Type: | Article |
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Authors/Creators: |
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Copyright, Publisher and Additional Information: | © 2016 by the BMJ Publishing Group Ltd. This is an author produced version of a paper subsequently published in Practical Neurology. Uploaded in accordance with the publisher's self-archiving policy. |
Keywords: | Genetics; hereditary spastic paraplegia; metabolic disease; neurogenetics; spasticity |
Dates: |
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Institution: | The University of Sheffield |
Academic Units: | The University of Sheffield > Faculty of Medicine, Dentistry and Health (Sheffield) > The Medical School (Sheffield) The University of Sheffield > Sheffield Teaching Hospitals |
Funding Information: | Funder Grant number NATIONAL INSTITUTE FOR HEALTH RESEARCH UNSPECIFIED |
Depositing User: | Symplectic Sheffield |
Date Deposited: | 22 Jan 2016 16:06 |
Last Modified: | 01 Jul 2017 15:13 |
Published Version: | http://dx.doi.org/10.1136/practneurol-2015-001117 |
Status: | Published |
Publisher: | BMJ Publishing Group |
Refereed: | Yes |
Identification Number: | 10.1136/practneurol-2015-001117 |
Related URLs: | |
Open Archives Initiative ID (OAI ID): | oai:eprints.whiterose.ac.uk:93670 |