ICD-11 classes
08 Diseases of the nervous system
Movement disorders
8A03 — Ataxic disorders
8A03.1 — Hereditary ataxia
8A03.11 — Ataxia due to Cerebrotendinous xanthomatosis

ICD-11 8A03.11 — Ataxia due to Cerebrotendinous xanthomatosis

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.

The diagnosis includes nothing.

The diagnosis excludes nothing.

It has no clarifying diagnoses.