Objective: Perry syndrome is an autosomal dominant disorder characterized by progressive parkinsonism and central hypoventilation.

Background: Since the original publication in 1975 there have been reported only 87 patients with Perry syndrome carrying DCTN1 mutations from 20 families, but no case had been reported from Estonia. The mean age of symptom onset is 48 years, and the mean disease duration is 5 years. Patients usually die of respiratory complications.

Methods: A 76-year-old Estonian male was admitted to the East Tallinn Central Hospital Hospital, with acute deterioration of his respiration after using levodopa at maximum single dosage 200 mg. The patient had a 2-year history of parkinsonism, which comprised hypomimia, cogwheel rigidity in all extremities, and low-frequency postural and intention tremor of the upper extremities that was more pronounced on the left side, positive family history of PD and supportive features such as autonomic dysfunction, normal MRI and no mutations detected in other genes. After genetics analysis an unclear clinical change was found in the DCTN1 gene, a rare heterozygous variant.

Results: After genetics analysis an unclear clinical change was found in the DCTN1 gene, a rare heterozygous variant, c.1288-10C> G. This variant has been previously described in Parkinson’s disease patient from Europe and was not detected in the case- control series nor present in ethnically matched patients from Norway. Therefore it is considered to be a rare variant.

Conclusions: Respiratory difficulties after the use of levodopa refer to Perry syndrome, even though all other characteristic symptoms of Perry syndrome may not be present. As most mutations with confirmed pathogenicity are so far known to be missense variants located into coding regions of DCTN1 gene this variant cannot be considered likely pathogenic at the moment as it is located into the intron 12 and its effect to the splicing is not predictable with in silico splice site-predicton programmes.

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MDS Abstracts - https://www.mdsabstracts.org/abstract/the-first-case-of-perry-syndrome-in-estonia/