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

atypical juvenile parkinsonism - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

atypical juvenile parkinsonism

MONDO:0018321

Overview

Atypical juvenile parkinsonism (AJP) is a complex form of young-onset Parkinson disease (YOPD) that manifests with pyramidal signs, eye movement abnormalities, psychiatric manifestations (depression, anxiety, drug-induced psychosis, and impulse control disorders), intellectual disability, and other neurological symptoms (such as ataxia and epilepsy) along with classical parkinsonian symptoms.

ResearchLimited published research (1 article)

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 atypical juvenile parkinsonism. 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 atypical juvenile parkinsonism.

1 publication has been identified in PubMed for atypical juvenile parkinsonism. Research spans Epidemiology / Natural History (100%).

Recent Publications

Farsana MK (2026). [PMID: 40829774](https://pubmed.ncbi.nlm.nih.gov/40829774/). *J Mov Disord*. [Epidemiology / Natural History]

Data assembled from 4 of 12 sources · Last updated Sep 19, 2026, 10:13 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

Orphanet

European rare disease database

Orphanet:391411

GARD

Genetic and Rare Diseases Info Center

GARD:17621

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?

← Back to All Diseases

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"

Kisho

atypical juvenile parkinsonism

Overview

Clinical Presentation

Clinical Guidance

Diagnosis

Diagnostic Criteria

Suggestive Findings

Treatment

Management Guidelines

Prognosis

Surveillance Guidelines

Research Landscape

Recent Publications

Medical References

External Resources

Orphanet

GARD

Questions for Your Care Team

Questions for Your Care Team

Differential Diagnosis

Clinical Guidance

Therapies Under Investigation

Clinical Trials

Latest News & Developments

Pallidal Deep Brain Stimulation for Tremor Control in a Child with Juvenile DNAJC6-Associated Parkinsonism.

Levodopa intolerance as a potential clinical red flag for neuronal intranuclear inclusion disease (NIID) in atypical parkinsonism: a case report.

atypical juvenile parkinsonism

Overview

Clinical Presentation

Clinical Guidance

Diagnosis

Diagnostic Criteria

Suggestive Findings

Treatment

Management Guidelines

Prognosis

Surveillance Guidelines

Research Landscape

Recent Publications

Medical References

External Resources

Orphanet

GARD

Subtypes

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Differential Diagnosis

Clinical Guidance

Therapies Under Investigation

Clinical Trials

Latest News & Developments

Pallidal Deep Brain Stimulation for Tremor Control in a Child with Juvenile DNAJC6-Associated Parkinsonism.

Levodopa intolerance as a potential clinical red flag for neuronal intranuclear inclusion disease (NIID) in atypical parkinsonism: a case report.