Search for a rare disease
Other search option(s)
Atypical juvenile parkinsonism
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:391411Classification level: Disorder
To date, only six families (from Iran, Italy, The Netherlands, Pakistan, and Turkey) have been reported.
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.
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).
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.