title: Clinical and radiological findings of a cerebrotendinous xanthomatosis patient with a novel p.A335V mutation in the CYP27A1 gene.
abstract: We herein describe the case of a Japanese cerebrotendinous xanthomatosis (CTX) patient with a novel CYP27A1 gene mutation. The patient had been diagnosed with cataracts at 25 years of age and subsequently developed neurological symptoms in his forties, being referred to our hospital at 47 years of age. Upon admission, Achilles tendon xanthomas, cognitive impairment, dysphagia, dysarthria, dystonia, spasticity, muscle weakness and ataxia were observed. Brain MRI revealed abnormal signals in the dentate nuclei, periventricular white matter and pyramidal tract, and the serum cholestanol level was elevated. A CYP27A1 gene analysis identified compound heterozygosity for p.A335V, a novel mutation, and p.R405Q, a previously reported mutation. Making an early diagnosis of CTX is crucial, as the administration of chenodeoxycholic acid reverses metabolic derangement.
authors.affiliation: Department of Medicine (Neurology and Rheumatology), Shinshu University School of Medicine, Japan.
authors.forename: Tsuneaki
authors.initials: T
authors.lastname: Yoshinaga
authors.forename: Yoshiki
authors.initials: Y
authors.lastname: Sekijima
authors.forename: Shingo
authors.initials: S
authors.lastname: Koyama
authors.forename: Keiko
authors.initials: K
authors.lastname: Maruyama
authors.forename: Toshikazu
authors.initials: T
authors.lastname: Yoshida
authors.forename: Takeo
authors.initials: T
authors.lastname: Kato
authors.forename: Shu-ichi
authors.initials: S
authors.lastname: Ikeda
mesh_terms: D000125:Achilles Tendon / Q000473:pathology; D000409:Alanine; D001259:Ataxia / Q000209:etiology; D001921:Brain / Q000503:physiopathology*; D002386:Cataract / Q000235:genetics; D002635:Chenodeoxycholic Acid / Q000627:therapeutic use; D053493:Cholestanetriol 26-Monooxygenase / Q000235:genetics*; D004083:Cholestanol / Q000097:blood; D003680:Deglutition Disorders / Q000209:etiology; D004401:Dysarthria / Q000209:etiology; D004421:Dystonia / Q000209:etiology; D042241:Early Diagnosis; D006801:Humans; D008607:Intellectual Disability / Q000209:etiology; D008279:Magnetic Resonance Imaging; D008297:Male; D008875:Middle Aged; D009128:Muscle Spasticity / Q000209:etiology; D018908:Muscle Weakness / Q000209:etiology; D009154:Mutation; D010375:Pedigree; D011859:Radiography; D016896:Treatment Outcome; D014633:Valine; D019294:Xanthomatosis, Cerebrotendinous / Q000150:complications* / Q000175:diagnosis* / Q000000981:diagnostic imaging / Q000235:genetics / Q000473:pathology / Q000503:physiopathology
chemical_list: D002635:Chenodeoxycholic Acid; D004083:Cholestanol; C506831:CYP27A1 protein, human; D053493:Cholestanetriol 26-Monooxygenase; D014633:Valine; D000409:Alanine