The wide spectrum of cerebrotendinous xanthomatosis: Case report of a rare but treatable disease

Clinical Neurology and Neurosurgery

Volumn 143, Issue , 2016, Pages 1-3

  Rosafio, Francesca ^a   Cavallieri, Francesco ^a   Guaraldi, Pietro ^b   Taroni, Franco ^c   Nichelli, Paolo Frigio ^a   Mandrioli, Jessica ^a  

^a UNIVERSITY OF MODENA AND REGGIO EMILIA   (Italy)

^b AUSL Modena   (Italy)

^c DEPARTMENT OF NEUROSURGERY   (Italy)

Author keywords

Cerebrotendinous xanthomatosis; Chenodeoxycholic acid; Cholesterol and cholestanol deposition; CYP27A1 gene; Spinocerebellar ataxia

Indexed keywords

CHENODEOXYCHOLIC ACID; CHOLESTANETRIOL 26 MONOOXYGENASE; CYP27A1 PROTEIN, HUMAN;

ACHILLES TENDINITIS; ADULT; ARTICLE; ATAXIC GAIT; BEHAVIOR CHANGE; CASE REPORT; CATARACT; CEREBELLUM ATROPHY; CEREBROTENDINOUS XANTHOMATOSIS; COGNITIVE DEFECT; DISABILITY; DISEASE COURSE; DYSPHAGIA; DYSTONIA; ELECTROENCEPHALOGRAM; GENETIC SCREENING; HUMAN; HYPERSALIVATION; ITALY; JAPAN; JUVENILE; MALE; MENTAL DEFICIENCY; NUCLEAR MAGNETIC RESONANCE IMAGING; PHENOTYPE; RNA SPLICING; SIBLING; SPASTICITY; DIAGNOSTIC IMAGING; FEMALE; GENETICS; MIDDLE AGED; PEDIGREE; RARE DISEASES; TREATMENT OUTCOME; XANTHOMATOSIS, CEREBROTENDINOUS;

ADULT; CHENODEOXYCHOLIC ACID; CHOLESTANETRIOL 26-MONOOXYGENASE; FEMALE; HUMANS; MAGNETIC RESONANCE IMAGING; MALE; MIDDLE AGED; PEDIGREE; RARE DISEASES; TREATMENT OUTCOME; XANTHOMATOSIS, CEREBROTENDINOUS;

EID: 84957972634     PISSN: 03038467     EISSN: 18726968     Source Type: Journal    
DOI: 10.1016/j.clineuro.2016.01.032     Document Type: Article

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