Ataxia due to Cerebrotendinous xanthomatosis

Definition

Ataxia in the setting of cerebrotendinous xanthomatosis, a rare autosomal recessive disorder of bile acid metabolism caused by a mutation in the CYP27A1 gene encoding mitochondrial enzyme sterol 27-hydroxylase. Accumulation of sterols in multiple tissues leads to premature cataracts and tendon xanthomas in late childhood, followed by progressive neurological dysfunction such as ataxia, dementia, and polyneuropathy.

Also indexed as

Nearby in Hereditary ataxia

• 8A03.10Friedreich ataxia
• 8A03.12Ataxia due to Refsum disease
• 8A03.13Ataxia due to abetalipoproteinemia
• 8A03.14Hereditary episodic ataxia
• 8A03.15Ataxia due to mitochondrial mutations
• 8A03.16Spinocerebellar ataxia
• 4B4YOther specified diseases of the immune system
• 4B4ZDiseases of the immune system, unspecified