RNF216 Leukodystrophy

Inheritance:

Autosomal Recessive

Inheritance from both parents will result in the disease

Age range at onset:

Specialists you may see:

Symptoms

RNF216 is a very rare and recently described condition inherited in an autosomal recessive fashion. It leads to a combination of ataxia, widespread leukodystrophy and hormonal problems (hypogonadotropic hypogonadism). Often patients with RNF216 mutations will have memory (cognitive) problems, balance problems (ataxia) and problems with excess movement (chorea). Sometimes the condition can resemble Huntington’s Disease, but it is a recessive disorder.

Cause

Caused by mutations in the RNF216 gene, which is involved in the breakdown and disposal of damaged proteins in the cell.

News, research and treatment: RNF 216 mutations as a novel cause of autosomal recessive Huntington-like disorder (Santens et al, 2015) See more here.