Parkinsonism as neurological presentation of late-onset cerebrotendinous xanthomatosis

摘要

Cerebrotendinous xanthomatosis (CTX) is an inherited multisystem lipid storage disease due to mutations of CYP27A1 gene resulting in sterol-27-hydroxylase enzyme deficiency and increased concentration of plasma and tissue cholestanol. The phenotype is characterized by bilateral cataract and diarrhea in infancy, whereas tendon xanthomas, osteoporosis and neurological involvement including behavioural and cognitive impairment, spastic paraparesis and cerebellar ataxia usually present in early adulthood [1]. Signal abnormalities of the dentate nuclei on magnetic resonance imaging (MRI) of the brain are considered a characteristic feature of the disease [2]. Replacement therapy with chenodeoxycholic acid (CDCA) suppresses abnormal bile acid synthesis and stabilizes clinical and laboratory parameters.