Perry syndrome

Evidence-based neurology checklist on perry syndrome: 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 Systemic features Differential diagnosis Pathology: TDP-43…

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

Systemic features

Differential diagnosis

Pathology: TDP-43 positive inclusions

Pathology: others

Treatment

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. 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.
  5. Tacik P, Fiesel FC, Fujioka S, et al. Three families with Perry syndrome from distinct parts of the world. Parkinsonism Relat Disord 2014; 20:884-888.
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