Early-onset parkinson disease
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[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