Kisho

Kisho is an information platform, not a medical provider. Nothing on this site constitutes medical advice, diagnosis, or treatment recommendations. All content is aggregated from publicly available sources (including ClinicalTrials.gov, PubMed, FDA.gov, and Orphanet) and is provided for informational purposes only. Clinical trial eligibility, treatment decisions, and any health-related actions should always be discussed with a qualified healthcare professional. Kisho does not endorse any specific therapy, organization, or clinical trial. Terms of use · Privacy policy

young-onset Parkinson disease (YOPD) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

young-onset Parkinson disease

MONDO:0017279

Also known as:YOPDearly-onset Parkinson diseaseearly-onset Parkinson's disease

Find Clinical TrialsTrials

Overview

A form of Parkinson disease (PD) characterized by an age of onset between 21-45 years, rigidity, painful cramps followed by tremor, bradykinesia, dystonia, gait complaints and falls, and other non-motor symptoms. A slow disease progression and a more pronounced response to dopaminergic therapy are also observed in most YOPD forms.

Clinical Trials4 registered · 2 recruiting

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 very common findings: Muscle stiffness (rigidity); and common findings: Depression, Hallucinations, Lack of interest or motivation (apathy), and Tremor and others. 34 total HPO annotations.

Organ System	Phenotype Count	Example Features
Brain and nerves	18	Muscle stiffness (rigidity), Depression, Hallucinations

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

Updated guidelines on the molecular diagnosis of Parkinson disease were provided in a joint effort by the European Federation of Neurological Societies (EFNS), the European Section of the International Parkinson and Movement Disorders Society (MDS-ES), and the European Neurological Society (ENS) . Some national societies have also published guidelines on the molecular diagnosis of Parkinson disease, such as the German Society for Neurology. In addition, new diagnostic criteria using a biological classification referred to as SynNeurGe have been published .

Source: GeneReviews — "PINK1 Type of Young-Onset 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 young-onset Parkinson disease. The disease remains an area of unmet medical need.

GeneReviews

Management Guidelines

No clinical practice guidelines specifically for PINK1 type of young-onset Parkinson disease have been published. Some national societies (e.g., the German Society for Neurology) recommend treating PINK1 type of young-onset Parkinson disease similar to Parkinson disease of unknown cause. In the absence of internationally published guidelines, the following recommendations are based on the authors' personal experience managing individuals with this disorder. Evaluations Following Initial Diagnosis To establish the extent of disease and needs in an individual diagnosed with PINK1 type of young-onset Parkinson disease, the evaluations summarized (if not performed as part of the evaluation that led to the diagnosis) are recommended. Table 4. PINK1 Type of Young-Onset Parkinson Disease: Recommended Evaluations Following Initial Diagnosis

Prognosis

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

GeneReviews

Surveillance Guidelines

Table 6. PINK1 Type of Young-Onset Parkinson Disease: Recommended Surveillance

System/Concern

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.

4 clinical trials registered, 2 recruiting. Interventions under study include other interventions, drug therapy, and biologic therapy. Pipeline includes 1 PHASE2, 1 PHASE1. Research is sponsored by a mix of industry and academic institutions.

133 publications have been identified in PubMed for young-onset Parkinson disease. Research spans Basic Science / Preclinical (29%), Epidemiology / Natural History (20%), and Case Report / Case Series (17%).

Research Type	Count	% of Total
Laboratory research	39

Data assembled from 6 of 12 sources · Last updated Sep 19, 2026, 11:56 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

Orphanet

European rare disease database

Orphanet:2828

GARD

Genetic and Rare Diseases Info Center

GARD:16610

Questions for Your Care Team

→Are any of the 4 active clinical trials 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

GeneReviews

Clinical Guidance

PINK1 type of young-onset Parkinson disease is characterized by typically early-onset Parkinson disease that is often clinically indistinguishable from other genetic causes of Parkinson disease or idiopathic Parkinson disease. Typical features include bradykinesia, rigidity, dyskinesia, motor fluctuations, and dystonia. Some individuals have cognitive decline and psychiatric manifestations. The following information is based on a systematic review of published reports including 205 individuals with PINK1 type of young-onset Parkinson disease from 136 families (see www.mdsgene.org and references therein). Table 2. PINK1 Type of Young-Onset Parkinson Disease: Frequency of Select Features

Feature	% of Persons w/Feature1	Comment
Bradykinesia	95%	—
Rigidity	90%	—
Resting tremor	78%	—
Dyskinesia	67%	—
Motor fluctuations	79%	—
Dystonia	48%	Often of the lower limbs
Cognitive decline	29%	Including mild cognitive impairment dementia
Autonomic dysfunction	48%	Most commonly including urinary urgency or urge incontinence orthostatic hypotension
Psychiatric manifestations	33%-56%	Depression in 51%, anxiety in 56%, psychotic symptoms in 33% Data is based on 205 reported individuals identified through the MDSGene PINK1 Review, previously published by and updated on the MDSGene website in February 2024 (from www.mdsgene.org; last accessed 2-29-24).

Source: GeneReviews — "PINK1 Type of Young-Onset Parkinson Disease"

GeneReviews

Differential Diagnosis

Clinically, PINK1 type of young-onset Parkinson disease and idiopathic Parkinson disease are difficult to differentiate (see Parkinson Disease Overview). More than 80% of individuals with Parkinson disease have no family history of the disorder. A monogenic cause of Parkinson disease can be identified in some individuals with a positive family history or a young age at disease onset. Early-onset autosomal recessive Parkinson disease. PINK1 type of young-onset Parkinson disease and early-onset Parkinson disease of other etiologies are difficult to distinguish by clinical examination. Table 3. Genes Associated with Early-Onset Autosomal Recessive Parkinson Disease in the Differential Diagnosis of PINK1 Type of Young-Onset Parkinson Disease

Gene	PD Designation1	Median Age at Onset(Range)2	Selected Features
PRKN	Parkin type of early-onset Parkinson disease (PARK-Parkin)	31 yrs(3-81)	Most common cause of EOPD; PARK-PINK1 PARK-Parkin are clinically indistinguishable.
PARK7 (DJ1)	PARK-PARK7 (OMIM 606324)	27 yrs(15-40)	Phenotype similar to PARK-Parkin; IDD /or seizures occasionally DNAJC6
PARK-DNAJC6	11 yrs(7-42)	Pyramidal signs; IDD/ early cognitive impairment; Early vivid hallucinations on intake of dopamine agonists; Early falls; Saccadic abnormalities; Pyramidal signs	—
FBXO7	PARK-FBXO7 (OMIM 260300)	17 yrs(10-52)	IDD/ early cognitive impairment; Early vivid hallucinations behavioral abnormalities on intake of dopamine agonists; Early falls; Saccadic abnormalities; Gaze palsy; Oculogyric spasms; Pyramidal signs; Autonomic dysfunction
SYNJ1	PARK-SYNJ1 (OMIM 615530)	21 yrs(12-31)	Early cognitive impairment; Early falls; Saccadic abnormalities; Gaze palsy; Pyramidal signs; Ataxia; Autonomic dysfunction
VPS13C	PARK-VPS13C (OMIM 616840)	29 yrs(0-70)	Early cognitive impairment; Early falls; Pyramidal signs; Autonomic dysfunction EOPD = early-onset Parkinson disease; IDD = intellectual developmental disorder 1. Nomenclature based on and . 2. Data based on , , and the MDSGene website (www.mdsgene.org). Levodopa-responsive dystonia.

Source: GeneReviews — "PINK1 Type of Young-Onset Parkinson Disease"

System/Concern	Evaluation	Comment
Neurologic	Detailed neurologic exam focusing on presence extent of movement disorder	Using the Unified Parkinson Disease Rating Scale1 Assessment for presence/severity of atypical manifestations
Autonomic	Assessment for presence/severity of urinary urgency, urge incontinence, constipation, orthostatic hypotension	—
Neuropsychiatric	Formal neuropsychiatric assessment w/neuropsychiatrist	—
Cognition	Formal cognitive testing	—
Sleep	Assessment for presence/severity of sleep disturbances, e.g., difficulties falling asleep, staying asleep, or rapid eye movement sleep behavior disorder (RBD)	Consider polysomnography for persons w/suspected RBD.
Smell	Assessment for presence/severity of hyposmia	Nutrition/ Gastrointestinal
Genetic counseling	By genetics professionals2	To inform affected persons their families re nature, MOI, implications of PINK1 type of young-onset Parkinson disease to facilitate medical personal decision making Family support
resources	By clinicians, wider care team, family support organizations	Assessment of family social structure to determine need for:; Community or; Social work referral; Home nursing referral MOI = mode of inheritance; OT = occupational therapist; PT = physical therapist; SLP = speech-language therapist 1. Goetz et al2008] 2.
PINK1 Type of Young-Onset Parkinson Disease: Treatment of Manifestations Manifestation/Concern	Treatment	Considerations/Other Neurologic

Kisho

young-onset Parkinson disease

Overview

Clinical Presentation

Diagnosis

Diagnostic Criteria

Treatment

Management Guidelines

Prognosis

Surveillance Guidelines

Research Landscape

Medical References

External Resources

Orphanet

GARD

Questions for Your Care Team

Questions for Your Care Team

Clinical Guidance

Explore clinical features

Differential Diagnosis

Clinical Guidance

Therapies Under Investigation

Clinical Trials

Recent Publications

Latest News & Developments

Preventing Parkinson's disease in the context of movement disorders: a narrative review of current evidence and future directions.

Large-scale profiling of blood microbial signatures in patients with Parkinson's disease and its association with disease progression: a cross-sectional study.

young-onset Parkinson disease

Overview

Clinical Presentation

Diagnosis

Diagnostic Criteria

Treatment

Management Guidelines

Prognosis

Surveillance Guidelines

Research Landscape

Medical References

External Resources

Orphanet

GARD

Subtypes

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Clinical Guidance

Explore clinical features

Differential Diagnosis

Clinical Guidance

Therapies Under Investigation

Clinical Trials

Recent Publications

Latest News & Developments

Preventing Parkinson's disease in the context of movement disorders: a narrative review of current evidence and future directions.

Large-scale profiling of blood microbial signatures in patients with Parkinson's disease and its association with disease progression: a cross-sectional study.