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juvenile-onset Parkinson disease - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

juvenile-onset Parkinson disease

MONDO:0000828

Also known as:juvenile-onset Parkinson's disease

Overview

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.

No HPO annotations are available for this condition.

GeneReviews

Clinical Guidance

DNAJC6 Parkinson disease is a complex early-onset neurologic disorder characterized by typical parkinsonian symptoms including bradykinesia, resting tremor, rigidity, and postural instability. To date, 20 individuals with biallelic DNAJC6 pathogenic variants have been identified, 19 of whom have prominent motor features [, , , , , , ]. One additional individual with early-onset parkinsonism and other findings consistent with DNAJC6 Parkinson disease was compound heterozygous, with one DNAJC6 variant predicted to be pathogenic and one DNAJC6 variant that may potentially be associated with disease manifestations; further study is needed to determine if this variant is benign or pathogenic . The following description of the phenotypic features associated with this condition is based on reports of the 20 individuals with biallelic DNAJC6 pathogenic variants. Table 2. DNAJC6 Parkinson Disease: Frequency of Select Features

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

Suggestive Findings

DNAJC6 Parkinson disease should be considered in individuals with the following findings.

Juvenile-onset presentation (onset age 21 years)

Source: GeneReviews — "DNAJC6 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 juvenile-onset Parkinson disease. The disease remains an area of unmet medical need.

GeneReviews

Management Guidelines

Evaluations Following Initial Diagnosis To establish the extent of disease and needs in an individual diagnosed with DNAJC6 Parkinson disease, the evaluations summarized (if not performed as part of the evaluation that led to the diagnosis) are recommended. Table 5. Recommended Evaluations Following Initial Diagnosis in Individuals with DNAJC6 Parkinson Disease

Prognosis

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

GeneReviews

Surveillance Guidelines

Table 7. Recommended Surveillance for Individuals with DNAJC6 Parkinson Disease

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.

No clinical trials have been registered for juvenile-onset Parkinson disease.

24 publications have been identified in PubMed for juvenile-onset Parkinson disease. Research spans Basic Science / Preclinical (42%), Case Report / Case Series (29%), and Review / Meta-Analysis (21%).

Research Type	Count	% of Total
Laboratory research	10	42%

Data assembled from 3 of 12 sources · Last updated Sep 18, 2026, 3:18 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

Questions for Your Care Team

→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

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Feature	Proportion of Persons w/Feature	Comment
Juvenile onset (age 21 yrs)	Early onset (age 21-50 yrs) Parkinsonism (bradykinesia, resting tremor, rigidity, postural instability)	14/14
Developmental delay	10/14	–
Intellectual disability	12/14	1/6
Dystonia	9/14	–
Spasticity	6/14	–
Myoclonus	2/14	–
Seizures	7/14	–
Anxiety	3/14	–
Behavior disorders	3/14	—
Psychosis	2/14	1/6
Gastrointestinal /or bulbar dysfunction	5/14	–

Differential Diagnosis

Early-Onset Parkinson Disease DNAJC6 Parkinson disease is often clinically indistinguishable from early-onset Parkinson disease and parkinsonism of other etiologies (see Parkinson Disease Overview and ). Rigidity, bradykinesia, and resting tremor are variably combined in these disorders. Table 3. Genes Associated with Early-Onset Autosomal Recessive Parkinson Disease and Parkinsonism in the Differential Diagnosis of DNAJC6 Parkinson Disease

Gene	PDDesignation1	Median Ageat Onset(Range)2	Number ofPersons2,3	Comment
ATP13A2	PARK-ATP13A2 (Kufor-Rakeb syndrome) (OMIM 606693)	14 (0-30) yrs	36	Pyramidal signs, eye movement abnormalities, T2-weighted basal ganglia hypointensity, cerebral cerebellar atrophy, brain stem atrophy
DJ-1	PARK-DJ-1 (OMIM 606324)	27 (15-40) yrs	33	Phenotype similar to PARK-Parkin; ID, DD /or seizures occasionally; risk to heterozygotes unknown
FBXO7	PARK-FBXO7 (OMIM 260300)	17 (10-52) yrs	27	ID/DD/early cognitive impairment, early vivid hallucinations behavioral abnormalities w/intake of dopamine agonists, early falls, saccadic abnormalities, gaze palsy, oculogyric spasms, pyramidal signs, autonomic dysfunction
GBA1 (GBA)	PARK-GBA	May be 50 yrs; median onset: ~60 yrs4	100	Severe motor impairment rapid progression (akinetic-rigid onset), early onset of cognitive decline, neuropsychiatric autonomic vulnerability PINK1
PARK-PINK1	32 (9-67) yrs	151	2nd most common cause of EOPD; heterozygotes may have PD risk5. PRKN	—
PARK-Parkin	31 (3-81) yrs	1000	Most common cause of EOPD; dystonia, hyperreflexia5	—
SYNJ1	PARK-SYNJ1 (OMIM 615530)	21 (12-31) yrs	15	Early cognitive impairment, early falls, saccadic abnormalities, gaze palsy, pyramidal signs, ataxia, autonomic dysfunction
VPS13C	PARK-VPS13C (OMIM 616840)	29 (0-70) yrs	4	Early cognitive impairment, early falls, pyramidal signs, autonomic dysfunction
SPG11	Spastic paraplegia 11 (SPG11)	Typically in infancy or adolescence6; median onset of parkinsonism: ~15 yrs	5 (atypical parkinsonism)	Progressive spastic paraparesis, cognitive impairment, axonal neuropathy, MRI abnormalities (thin corpus callosum, T2 periventricular white matter hyperintensities) ZFYVE26
Spastic paraplegia 15	Childhood or early adulthood; median onset of parkinsonism: ~15 (14-30) yrs	6 (atypical parkinsonism)	Progressive spastic paraparesis, levodopa responsive, MRI abnormalities (thin corpus callosum) DD = developmental delay; EOPD = early-onset Parkinson disease; ID = intellectual disability; PD = Parkinson disease 1. Nomenclature based on 2. Data from MDSGene.org (accessed 10-10-2023) 3.	—

Source: GeneReviews — "DNAJC6 Parkinson Disease"

System/Concern	Evaluation	Comment
Neurologic	Detailed neurologic exam focusing on presence extent of movement disorder	Unified Parkinson Disease [Fahn Elton 1987] or Movement Disorder Society rating scale may be helpful. Detailed neurologic exam for movement abnormalities
Neuropsychiatric	Formal neuropsychiatric assessment w/neuropsychiatrist	Nutrition/ Gastrointestinal
Musculoskeletal	Detailed orthopedic exam	For secondary complications (e.g., fixed contractures, hip spine abnormalities)
Vision	Ophthalmology eval for eye movement abnormalities vision assessment	Genetic
counseling	By genetics professionals1	To obtain a pedigree inform affected persons their families re nature, MOI, implications of DNAJC6 Parkinson disease to facilitate medical personal decision making Family support resources
Treatment of Manifestations in Individuals with DNAJC6 Parkinson Disease Manifestation/Concern	Treatment	Considerations/Other Parkinsonism
Myoclonus	Oral medications: sodium valproate, clonazepam, levetiracetam, piracetam	DD/ID
Seizures	Anti-seizure medication depending on type frequency of seizures	Psychiatric
disorders	Treatment per neuropsychiatrist to determine need for antidepressants, antipsychotic medications, /or anxiolytics	—
Sleep disorder	Sleep aids (e.g., sleep system, conservative measures, melatonin, sedative medications) depending on underlying sleep disorder	GI manifestations
Recommended Surveillance for Individuals with DNAJC6 Parkinson Disease System/Concern	Evaluation	Frequency Movement
disorder	PT, OT, speech language therapy evals	Every 6 mos or more frequently as needed
Seizures	Assess for new manifestations (e.g., seizures, changes in tone, movement disorders).	At each visit EEG

Kisho

juvenile-onset Parkinson disease

Overview

Clinical Presentation

Clinical Guidance

Diagnosis

Diagnostic Criteria

Suggestive Findings

Treatment

Management Guidelines

Prognosis

Surveillance Guidelines

Research Landscape

Medical References

Questions for Your Care Team

Questions for Your Care Team

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.

juvenile-onset Parkinson disease

Overview

Clinical Presentation

Clinical Guidance

Diagnosis

Diagnostic Criteria

Suggestive Findings

Treatment

Management Guidelines

Prognosis

Surveillance Guidelines

Research Landscape

Medical References

Subtypes

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

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.