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Atypical juvenile parkinsonism
Disease definition
A complex form of young-onset Parkinson disease 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.
ORPHA:391411
Classification level: DisorderSummary
Epidemiology
To date, only six families (from Iran, Italy, The Netherlands, Pakistan, and Turkey) have been reported.
Clinical description
The disease has a juvenile onset (usually in the early teens or early twenties) and manifests with pyramidal signs, dystonia, psychiatric (depression, anxiety, drug-induced psychosis, dementia, and impulse control disorders) and other neurological (such as ataxia and epilepsy) symptoms along with classical parkinsonian symptoms (bradykinesia, postural instability, rigidity, involuntary movements, dysarthria, supranuclear gaze, hypomimia, gait impairment, and myoclonic jerks). Intellectual disability is also observed.
Etiology
Mutations in the genes ATP13A2 (1p36), PLA2G6 (22q13.1), FBXO7 (22q12.3), DNAJC6 (1p31.3), SPG11 (15q13-q15), SPG15 (14q24.1) and SYNJ1 (21q22.2) are associated with Atypical juvenile parkinsonism (AJP).
Genetic counseling
AJP usually occurs in an autosomal recessive manner. However, sporadic cases have also been reported and the majority of these cases are born from consanguineous parents.
A summary on this disease is available in Deutsch (2015) Español (2015) Italiano (2015) Nederlands (2015)
Detailed information
Disease review articles
- Clinical genetics review
- English (2021) - GeneReviews
produced/endorsed by ERN(s) 
produced/endorsed by FSMR(s)Additional information