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autosomal dominant Parkinson disease 8 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

autosomal dominant Parkinson disease 8

MONDO:0011764

Also known as:LRRK2 Parkinson diseaseParkinson disease 8Parkinson disease caused by mutation in LRRK2

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Overview

Any Parkinson disease in which the cause of the disease is a mutation in the LRRK2 gene.

GeneticsAutosomal dominant

Clinical Trials1 registered

Clinical Presentation

Built from Human Phenotype Ontology (HPO) phenotype annotations and GeneReviews clinical descriptions. Features represent findings documented across known cases — not an exhaustive list of possible symptoms.

Features include: Resting tremor, Parkinsonism, Slowness of movement (bradykinesia), and Muscle stiffness (rigidity) and 6 more.

Organ System	Phenotype Count	Example Features
Brain and nerves	7	Resting tremor, Parkinsonism, Slowness of movement (bradykinesia)

Diagnosis

Drawn from GeneReviews diagnostic guidelines, newborn screening panel status (RUSP), and ClinGen gene-disease validity classifications. Reflects current clinical evidence and consensus where available.

GeneReviews

Diagnostic Criteria

No consensus clinical diagnostic criteria for LRRK2-related Parkinson disease (PARK-LRRK2) have been published.

Suggestive Findings

PARK-LRRK2 should be suspected in probands with the following clinical and imaging findings and family history. PARK-LRRK2 may not be distinguishable from other forms of Parkinson disease; suggestive findings include clinical findings of Parkinson disease, additional clinical findings, and features highly suggestive of but frequently not present in individuals with PARK-LRRK2.

Clinical findings of Parkinson disease

Treatment

Compiled from FDA-approved drug records, orphan drug designations, and FDA Adverse Event Reporting System (FAERS) safety data. GeneReviews management guidance is included where available.

No approved treatments are currently available for autosomal dominant Parkinson disease 8. The disease remains an area of unmet medical need.

GeneReviews

Management Guidelines

The clinical management of individuals with LRRK2-related Parkinson disease (PARK-LRRK2) does not differ from that of Parkinson disease of unknown cause and should be tailored to the individual (see also Parkinson Disease Overview).

Evaluations Following Initial Diagnosis

To establish the extent of disease and needs in an individual diagnosed with PARK-LRRK2, the evaluations summarized (if not performed as part of the evaluation that led to the diagnosis) are recommended.

Prognosis

Based on GeneReviews surveillance recommendations, HPO phenotype frequency and severity annotations, and published prevalence estimates from Orphanet and OMIM.

GeneReviews

Surveillance Guidelines

To monitor existing manifestations, the individual's response to supportive care, and the emergence of new manifestations, the evaluations summarized in are recommended.

Table 4.

LRRK2-Related Parkinson Disease: Recommended Surveillance

System/Concern | Evaluation | Frequency

Neurologic

| Neurologic exam1 incl assessment of slowness of movement dexterity, tremor, rigidity, gait postural stability assessment (MDS-UPDRS)2 | At least annually; typically every 3 mos

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

1 clinical trial registered. Interventions under study include drug therapy and other interventions. Pipeline includes 1 PHASE2. Research is primarily industry-sponsored.

161 publications have been identified in PubMed for autosomal dominant Parkinson disease 8. Research spans Basic Science / Preclinical (49%), Review / Meta-Analysis (23%), and Epidemiology / Natural History (12%).

Research Type	Count	% of Total
Laboratory research	79	49%

Data assembled from 6 of 12 sources · Last updated Sep 19, 2026, 5:25 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:607060

GARD

Genetic and Rare Diseases Info Center

GARD:18476

Questions for Your Care Team

→Are any of the 1 active clinical trial a good fit for my situation?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

← Back to All Diseases

Kisho

autosomal dominant Parkinson disease 8

Overview

Clinical Presentation

Diagnosis

Diagnostic Criteria

Suggestive Findings

Treatment

Management Guidelines

Evaluations Following Initial Diagnosis

Prognosis

Surveillance Guidelines

Neurologic

Research Landscape

Medical References

External Resources

OMIM

GARD

Questions for Your Care Team

Questions for Your Care Team

Clinical Guidance

Explore clinical features

Differential Diagnosis

Neurologic

Cognition

Autonomic dysfunction

Psychiatric

Melanoma

Clinical Guidance

Therapies Under Investigation

Clinical Trials

Gastrointestinal

Cognition

Psychiatric

Genitourinary manifestations

Sleep disorder

Cardiovascular

Recent Publications

autosomal dominant Parkinson disease 8

Overview

Clinical Presentation

Diagnosis

Diagnostic Criteria

Suggestive Findings

Treatment

Management Guidelines

Evaluations Following Initial Diagnosis

Prognosis

Surveillance Guidelines

Neurologic

Research Landscape

Medical References

External Resources

OMIM

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Clinical Guidance

Explore clinical features

Differential Diagnosis

Neurologic

Cognition

Autonomic dysfunction

Psychiatric

Melanoma

Clinical Guidance

Therapies Under Investigation

Clinical Trials

Gastrointestinal

Cognition

Psychiatric

Genitourinary manifestations

Sleep disorder

Cardiovascular

Recent Publications