Conditions / Genetic
cerebrotendinous xanthomatosis
info · Genetic
A xanthomatosis that is characterized by a deficiency in the production of the bile acid, chenodeoxycholic acid that has_material_basis_in homozygous or compound heterozygous mutation in the CYP27A1 gene, which encodes sterol 27-hydroxylase, on chromosome 2q35
A xanthomatosis that is characterized by a deficiency in the production of the bile acid, chenodeoxycholic acid that has_material_basis_in homozygous or compound heterozygous mutation in the CYP27A1 gene, which encodes sterol 27-hydroxylase, on chromosome 2q35.
Signs and symptoms
- Cerebellar atrophy
- EEG with generalized slow activity
- Lower limb muscle weakness
- Cerebral atrophy
- Babinski sign
- Gait disturbance
- Xanthomatosis
- Elevated CSF cholestanol concentration
- Ankle clonus
- Delayed somatosensory central conduction time
Also known as: Cholestanol storage disease