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Kufor-Rakeb syndrome

Synonyms
PARKINSON DISEASE 9, AUTOSOMAL RECESSIVE, JUVENILE-ONSET; Pallidopyramidal degeneration with supranuclear upgaze paresis, and dementia; Park 9

Summary

Kufor-Rakeb syndrome is 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, indicating that the pathogenesis of PARK9 can be considered among the syndromes of neurodegeneration with brain iron accumulation (NBIA; see 234200) (summary by Bruggemann et al., 2010). For a phenotypic description and a discussion of genetic heterogeneity of Parkinson disease (PD), see 168600. Biallelic mutation in the ATP13A2 gene also causes autosomal recessive spastic paraplegia-78 (SPG78; 617225), an adult-onset neurodegenerative disorder with overlapping features. Patients with SPG78 have later onset and prominent spasticity, but rarely parkinsonism. Loss of ATP13A2 function results in a multidimensional spectrum of neurologic features reflecting various regions of the brain and nervous system, including cortical, pyramidal, extrapyramidal, brainstem, cerebellar, and peripheral (summary by Estrada-Cuzcano et al., 2017). [from OMIM]

Available tests

62 tests are in the database for this condition.

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Clinical tests (62 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: CLN12, HSA9947, KRPPD, PARK9, SPG78, ATP13A2
    Summary: ATPase cation transporting 13A2

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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