[MIM 300 557, 600 116, 602 404, 605 909, 606 324, 610 297, 613 643, 615 528, 616 840]

Estimated incidence at 1.5/100,000 per year among 30 to 50 years old adults. Autosomal recessive or dominant transmission. 

There are different forms:

-         PARK2: autosomal recessive transmission of a mutation of the PARK2 gene. Penetrance is complete. Onset between 6 and 58 years. Typical clinical presentation; good response to levodopa.

-         PARK6: autosomal recessive transmission of a mutation of the PINK1 gene (1p36.12) coding for mitochondrial serine/threonine protein kinase

-        PARK7: autosomal recessive transmission

-         PARK8: sporadic mutation or autosomal dominant transmission of a mutation of the LRRK2 gene coding for dardarine.

Clinical signs: dystonic postures, especially at the lower limbs; resting tremor, rigidity, little or no cognitive impairment.

Segawa syndrome (see this term) is the most common form of dopa-responsive dystonia and also produces an early-onset Parkinson syndrome.

Treatment: (peribidil, rotigotine, ropinirole) dopaminergic agents, possibly L-dopa.

Other diseases can present signs of parkinsonism (see various items):

-        Huntington's disease

-               Wilson's disease

-                Perry syndrome

-           some spastic parapareses

-          Niemann-Pick disease type C

-               cerebrotendinous xanthomatosis

-                choreo-acanthocytosis

-                juvenile ceroid lipofuscinosis

-                PARK15, PARK20, DYT12, DYT16

-                DYT3 or X-linked dystonia-parkinsonism

-                deficiency of the dopamine transporter

-                cirrhosis-dystonia-polycythemia-hypermaganesemia syndrome

Not to mention the iatrogenic parkinsonian syndromes (linked to neuroleptics) and the secondary parkinsonisms: brain tumor, inflammatory vascular lesions, extrapontine myelinolysis , CO intoxication, methanol poisoning, etc ...

Anesthetic implications:

usual treatment must be continued; risk of dysphagia and gastroparesis; avoid using antagonists of the central effects of dopamine: butyrophenone, metoclopramide. Chronic L-dopa may induce orthostatic hypotension and a reduction of the response to the indirect vasopressors like ephedrine. It seems better to use direct vasopressors such as phenylephrine, but the published cases report no particular problems.

References :

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

Updated: December 2018