Treatable disease commonly misdiagnosed as HSP

Clinical and genetic diagnostic markers well-defined


A treatable autosomal recessive disease, Cerebrotendinous xanthomatosis, is commonly misdiagnosed as HSP or MS, despite some distinctive clinical symptoms. Early recognition and treatment may prevent irreversible neurological damage. Next-generation gene testing is a valuable adjunct in identifying this condition.


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.


SOURCE: Pract Neurol. 2015 Apr 10. pii: practneurol-2015-001117. doi: 10.1136/practneurol-2015-001117. [Epub ahead of print] PMID: 25862734 [PubMed – as supplied by publisher]


Diagnosis of spinal xanthomatosis by next-generation sequencing: identifying a rare, treatable mimic of hereditary spastic paraparesis.


Nicholls Z1, Hobson E1, Martindale J2, Shaw PJ1.

1 Academic Neurology Unit, Sheffield Institute for Translational Neuroscience (SITraN), University of Sheffield, Sheffield, UK.

2 Sheffield Diagnostic Genetics Service (SDGS), Sheffield Children’s Hospital NHS Foundation Trust, Sheffield, UK.


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