Author's response to reviews Title: Multi-parametric neuroimaging evaluation of cerebrotendinous xanthomatosis and their correlation with the neuropsychological presentations Authors:

Multi-parametric neuroimaging evaluation of cerebrotendinous xanthomatosis and its correlation with neuropsychological presentations

BACKGROUND Cerebrotendinous xanthomatosis (CTX) is a rare genetic disorder. Recent studies show that brain damage in CTX patients extends beyond the abnormalities observed on conventional magnetic resonance imaging (MRI). We studied the MRI and 99 mTc-ethyl cysteinate dimer single photon emission computed tomography (SPECT) findings of CTX patients and made a correlation with the neuropsycholog...

Clinical and Genetic Characteristics of Splicing Variant in CYP27A1 in an Iranian Family with Cerebrotendinous xanthomatosis

Cerebrotendinous xanthomatosis (CTX) is a rare inborn lipid-storage disease leading to a progressive multisystem disease. CTX with autosomal recessive inheritance is caused by a defect in the CYP27A1 gene. Hallmark clinical manifestations of CTX include bilateral cataracts, chronic diarrhea, tendon xanthomas, and neurologic dysfunction. CTX is a rare disorder, which is supposed to be under-diag...

Cerebrotendinous xanthomatosis (van Bogaert-Scherer-Epstein disease): CT and MR findings.

PURPOSE To describe the CT and MR findings in the brain and spinal cord of patients with cerebrotendinous xanthomatosis and to seek possible correlations between clinical, biochemical (cholestanol levels), and neuroimaging findings. METHODS Ten patients with well-defined clinical and biochemical diagnoses of cerebrotendinous xanthomatosis were examined. Brain CT was performed in eight cases. ...

Author's response to reviews Title: Brain mapping in cognitive disorders: A multidisciplinary approach to learning the tools and applications of functional neuroimaging Authors:

Author's response to reviews Title: Evaluation of multi-segmental kinematic modelling in the paediatric foot using three concurrent foot models Authors: