Catalog

Kufor-Rakeb syndrome

No MMS code

Link to WHO Definition

Kufor-Rakeb syndrome – http://id.who.int/icd/entity/1152636584

Kufor-Rakeb syndrome (KRS) presents with autosomal recessive young onset Parkinson's disease (YOPD), spastic paraparesis, abnormal eye movements and facial myokymia. KRS is caused by homozygous/compound heterozygous inactivating mutations in ATP13A2 (ATPase Cation Transporting 13A2) that is a lysosomal P5-type ATPase.