Perry syndrome

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

Perry syndrome. This is caused by mutations in the DCTN1 gene. Fully referenced neurology checklist.

Genetics

  • This is caused by mutations in the DCTN1 gene
  • The gene has a role in retrograde axonal and cytoplasmic transport
  • The transmission is autosomal dominant

Neurological features

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Systemic features

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Differential diagnosis

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Pathology: TDP-43 positive inclusions

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Pathology: others

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Treatment

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References

  1. Newsway V, Fish M, Rohrer JD, et al. Perry syndrome due to the DCTN1 G71R mutation: a distinctive levodopa responsive disorder with behavioral syndrome, vertical gaze palsy, and respiratory failure. Mov Disord 2010; 25:767-770.
  2. Wider C, Dachsel JC, Farrer MJ, Dickson DW, Tsuboi Y, Wszolek ZK. Elucidating the genetics and pathology of Perry syndrome. J Neurol Sci 2010; 289(1-2):149-154.
  3. Farrer MJ, Hulihan MM, Kachergus JM, et al. DCTN1 mutations in Perry syndrome. Nat Genet 2009; 41:163-165.
  4. Takezaki Y, Iriki Y, Madokoro Y, et al. Multifactorial anticholinergic toxicity-like presentation and malignant parkinsonism in Perry syndrome. Parkinsonism Relat Disord 2026; 146:108287.
  5. Aji BM, Medley G, O'Driscoll K, Larner AJ, Alusi SH. Perry syndrome: a disorder to consider in the differential diagnosis of Parkinsonism. J Neurol Sci 2013; 330:117-118.
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