Background Cerebrotendinous xanthomatosis (CTX) is a rare disorder due to defective
sterol 27-hydroxylase causing a lack of chenodeoxycholic acid (CDCA) production and high …

Background: Approximately 50% of cataracts are associated with genetic factors. Genetic
etiology and molecular mechanisms based on gene research increase the understanding of …

Cerebrotendinous xanthomatosis (CTX) is an autosomal recessive lipid storage disorder
caused by mutations in the CYP27A1 gene, which encodes the mitochondrial enzyme sterol …

Cerebrotendinous xanthomatosis (CTX) is an inborn error of metabolism caused by
recessive variants in the cytochrome P450 CYP27A1 gene. CTX is said to manifest with …

Importance Cerebrotendinous xanthomatosis (CTX) is a rare autosomal recessive bile acid
synthesis disorder caused by mutations inCYP27A1, the gene encoding sterol 27 …

Background Cerebrotendinous xanthomatosis (CTX) is a rare inborn lipid-storage disease
caused by mutations in the sterol 27-hydroxylase (CYP27A1) gene with an autosomal …

Background Cerebrotendinous xanthomatosis (CTX) is a rare genetic disorder related to
CYP27A1 biallelic mutations, leading to decreased synthesis of bile acids and increased …

Background Cerebrotendinous xanthomatosis (CTX) is an inborn disorder of bile acid
metabolism caused by deficiency of sterol 27-hydroxylase (CYP27A1) gene. CTX-related …

Ophthalmological abnormalities may occur in specific subtypes of hereditary spastic
paraplegia (HSP) and in genetic diseases that present with spastic paraplegia mimicking …

Autosomal recessive cerebellar ataxias (ARCAs) are a heterogeneous group of
neurodegenerative disorders affecting primarily the cerebellum and/or its afferent tracts …