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Kufor-Rakeb syndrome · Vinony

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Kufor-Rakeb syndrome

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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

Connections

Categories

Autosomal recessive disorders Neurodegenerative disorders Syndromes

Sources

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Parkinson's disease

Entity

digital object identifier

International Standard Serial Number

magnetic resonance imaging

International Statistical Classification of Diseases and Related Health Problems

botulinum toxin group

genetic disease

Medical Subject Headings

What links here16 pages

hereditary spastic paraplegia

neurodegeneration with brain iron accumulation

keratosis follicularis

alternating hemiplegia of childhood

Hailey-Hailey disease

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