[MIM 168 605]

(Parkinsonism with alveolar hypoventilation and depression)

Prevalence < 1.106. Autosomal dominant transmission of mutations in the DCTN1 gene coding for the main subunit of the protein complex of the dynactine protein complex.

Onset around 48 years of age (between 35 and 61).It presents with  parkinsonism (akinetic, rigid or symmetric), psychiatric manifestations (depression, lethargy, isolation, apathy, modified personality and sleep disorders). The syndrome usually spans over a period of 5 years and is characterized by weight loss. Central hypoventilation is observed late in the evolution of the disease.

Treatment is usually symptomatic. It is based on levodopa/carbidopa. Cases of hypoventilation require some kind of ventilatory support (invasive or non-invasive), especially overnight.

Anesthetic implications:

usual treatment must be continued; risk of dysphagia and gastroparesis; avoid the central effects of dopamine antagonists: butyrophenones, metoclopramide. Chronic use of L-dopa may induce orthostatic hypotension and a reduction of the response to indirect vasopressors like ephedrine. Direct vasopressors such as phenylephrine must be preferred.

References :

-        Carrière N, Defebvre L.
Syndrome parkinsonien à début précoce : quel bilan, à quel moment ?
Neurologies 2015 ; 18 ; 75-83

Updated: December 2018