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LRRK2-Related Parkinson Disease.

Source

GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2017.
2006 Nov 02 [updated 2014 Dec 11].

Author information

1
Center of Applied Neurogenetics, University of British Columbia, Vancouver, British Columbia
2
Center of Applied Neurogenetics, University of British Columbia, Vancouver, British Columbia
3
Department of Neuroscience, Mayo Clinic, Jacksonville, Florida

Excerpt

CLINICAL CHARACTERISTICS:

LRRK2-related Parkinson disease (PD) is characterized by features consistent with idiopathic PD: initial motor features of slowly progressive asymmetric tremor at rest and/or bradykinesia, cog-wheel muscle rigidity, postural instability, and gait abnormalities that may include festination and freezing. Non-motor symptoms in LRRK2-related PD occur with similar frequency as observed in typical idiopathic PD. Onset is generally after age 50 years.

DIAGNOSIS/TESTING:

The diagnosis of LRRK2-related PD relies on clinical findings and the identification of a pathogenic variant in LRRK2.

MANAGEMENT:

Treatment of manifestations: Pharmacologic replacement of dopamine, most commonly accomplished with the precursor of dopamine, L-dopa, combined with carbi-dopa. Dopamine agonists may also be used, as well as inhibitors of catechol-O-methyltransferase (COMT) or monoamine oxidase-B (MAO-B). Physical, occupational, and speech therapy may help. Neurosurgical procedures, such as deep brain stimulation of the subthalamic nucleus/globus pallidus interna or pallido-pontine nucleus, benefit some individuals in whom dyskinesias or gait disorders are especially problematic. Less commonly pallidotomy, or rarely fetal brain transplant to the caudate nucleus, may also provide benefit. Prevention of secondary complications: Prevention of L-dopa induced dyskinesias may include deep-brain stimulation, constant drug delivery/stimulation (CDD/CDS), reduction of levodopa doses, and the use of dopamine receptor agonists. Surveillance: Annual neurologic examination to assess gait, tremor, rigidity, cognition and mood. Agents/circumstances to avoid: Neuroleptic treatment may exacerbate parkinsonism.

GENETIC COUNSELING:

LRRK2-related PD is inherited in an autosomal dominant manner. However, given the reduced penetrance associated with LRRK2-related PD, a high percentage of affected individuals report unaffected parents. De novo mutation may occur; its frequency is unknown. Each child of an individual with LRRK2-related Parkinson disease has a 50% chance of inheriting the pathogenic variant. However, the risk of developing disease is lower than 50% because of age-related penetrance. Prenatal diagnosis for pregnancies at increased risk is possible if the pathogenic variant in the family is known.

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