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. Author manuscript; available in PMC: 2015 Jun 1.
Published in final edited form as: Clin Biochem. 2014 Apr 21;47(9):860–863. doi: 10.1016/j.clinbiochem.2014.04.017

Figure 1.

Figure 1

the plasma sample analyzed was from the daughter of a non-consanguineous couple, with two possibly affected siblings that died at 24 and 55 years old with neurological symptoms suggestive of CTX. The daughter had developed cataracts at age 22 years old that were surgically corrected and Achilles tendon xanthomas from age 13 (left panel) that could not be alleviated with surgery, resulting in difficulty walking and intense pain in the feet and knees. There was spastic gait present (pyramidal tract syndrome) with no ataxic manifestations, extrapyramidal signs or dementia, although an MRI of the brain showed bilateral occipital periventricular white matter signal hyperintensitiy on T2 and Flair (right panel).