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Kufor-Rakeb syndrome MeSH Supplementary Concept Data 2023


MeSH Supplementary
Kufor-Rakeb syndrome
Unique ID
C537177
RDF Unique Identifier
http://id.nlm.nih.gov/mesh/C537177
Entry Term(s)
KRPPD Kufor Rakeb pallidopyramidal degeneration with supranuclear upgaze paresis and dementia
Pallidopyramidal Degeneration with Supranuclear Upgaze Paresis and Dementia
Parkinson disease 9
Registry Number
0
Heading Mapped to
*Parkinsonian Disorders
Frequency
40
Note
A rare autosomal recessive form of juvenile-onset atypical Parkinson disease (PARK9) associated with supranuclear gaze palsy, SPASTICITY, and DEMENTIA. Some patients have neuroradiologic evidence of iron deposition in the BASAL GANGLIA. Mutations in the ATP13A2 gene have been identified. OMIM: 606693
Date of Entry
2010/08/25
Revision Date
2019/06/19
Kufor-Rakeb syndrome Preferred
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