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Article

Kufor-Rakeb Syndrome/PARK9: One Novel and One Possible Recurring Ashkenazi ATP13A2 Mutation.

Journal of Parkinson's disease - 1 Jan 2018

Inzelberg Rivka, Estrada-Cuzcano Alejandro, Laitman Yael, De Vriendt Els, Friedman Eitan, Jordanova Albena

Abstract excerpt

Kufor-Rakeb syndrome (KRS)/PARK9 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. Two affected siblings (born to non-consanguineous Jewish parents) presenting a similar KRS phenotype (onset age 27, 23), carried compound heterozygous...

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PMID: 29966207
DOI: 10.3233/JPD-181360

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