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Table 1 Summary of clinical characteristics in 4 patients with CTX

From: Cerebrotendinous Xanthomatosis: diversity of presentation and refining treatment with chenodeoxycholic acid

Patients Sex Age at symptom onset Age at diagnosis Infantile onset Diarrhoea Intellectual Disability Tendon Xanthomata Early onset cataract
Patient 1 M 8 42 No Yes Yes Yes
Patient 2 F 8 37 Yes Yes No Yes
Patient 3 M 15 37 No Yes No No
Patient 4 M 25 41 Yes No No No
Patients Pyramidal signs Extrapyramidal signs Epilepsy Dementia Neuropathy Osteoporosis
Patient 1 Yes No Yes Yes Yes No
Patient 2 Yes No No No No Yes
Patient 3 Yes Yes No No Yes No
Patient 4 Yes No No No Yes No
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Cerebellum & Ataxias

ISSN: 2053-8871

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