Kufor-Rakeb syndrome
Sign in to saveAlso known as PARK9, autosomal recessive Parkinson disease 9, autosomal recessive juvenile onset Parkinson disease 9, Parkinson Disease 9, Autosomal Recessive, Ceroid Lipofuscinosis, Neuronal, 12, KUFOR-RAKEB SYNDROME; KRS, Pallidopyramidal Degeneration With Supranuclear Upgaze Paresis and Dementia
Kufor-Rakeb syndrome (KRS) is a rare genetic neurodegenerative disorder characterized by juvenile Parkinsonism, pyramidal degeneration (dystonia), supranuclear palsy, and cognitive impairment
Research
126 papers- Kufor Rakeb Syndrome with Novel Mutation and the Role of Deep Brain Stimulation.Movement disorders clinical practice · 2022
- Kufor-Rakeb Syndrome/ Parkinson Disease Type 9.Indian journal of pediatrics · 2020
- Kufor Rakeb syndrome without gaze palsy and pyramidal signs due to novel ATP13A2 mutations.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2023
- Kufor-Rakeb syndrome-associated psychosis: a novel loss-of-function ATP13A2 variant and response to antipsychotic therapy.Neurogenetics · 2024
- ATP13A2 deficiency disrupts lysosomal polyamine export.Nature · 2020
via PubMed