PARK9 genetic Parkinson's disease (PD)

Written and reviewed by Dr Ibrahim Imam, Consultant Neurologist. Last reviewed .

PARK9 genetic Parkinson's disease (PD). This is caused by mutations in the ATP13A2 gene on chromosome 1p. Fully referenced neurology checklist.

Genetics

  • This is caused by mutations in the ATP13A2 gene on chromosome 1p
  • The transmission is autosomal recessive

Parkinsonian features

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Ophthalmic features

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Psychiatric features

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Other features

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Magnetic resonance imaging (MRI)

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Treatment

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Synonyms of PARK 9

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References

  1. Schneider SA, Hardy J, Bhatia KP. Syndromes of neurodegeneration with brain iron accumulation (NBIA): an update on clinical presentations, histological and genetic underpinnings, and treatment considerations. Mov Disord 2012; 27:42-53.
  2. Behrens MI, Brüggemann N, Chana P, et al. Clinical spectrum of Kufor-Rakeb syndrome in the Chilean kindred with ATP13A2 mutations. Mov Disord 2010; 25:1929-1937.
  3. Najim al-Din AS, Wriekat A, Mubaidin A, Dasouki M, Hiari M. Pallido-pyramidal degeneration, supranuclear upgaze paresis and dementia: Kufor-Rakeb syndrome. Acta Neurol Scand 1994; 89:347-352.
  4. Williams DR, Hadeed A, al-Din AS, Wreikat AL, Lees AJ. Kufor Rakeb disease: autosomal recessive, levodopa-responsive parkinsonism with pyramidal degeneration, supranuclear gaze palsy, and dementia. Mov Disord 2005; 20:1264-1271.
  5. Brüggemann N, Hagenah J, Reetz K, et al. Recessively inherited parkinsonism: effect of ATP13A2 mutations on the clinical and neuroimaging phenotype. Arch Neurol 2010; 67:1357-1363.
  6. And 5 more. Subscribe to see the full list

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