Autosomal-dominant and autosomal-recessive form of Juvenile parkinsonism – part I



Juvenile parkinsonism, Parkinson's disease, atypical parkinsonism, Parkin, levodopa


Juvenile parkinsonism (JP) is a rare, heterogeneous and often familial syndrome characterized by the manifestation of parkinsonism in patients under 21 years of age. The clinical picture may resemble that of idiopathic Parkinson's disease (PD), but there is often an atypical and complex phenotype, with other predominant motor symptoms (dystonia, choreoathetosis, spasticity, myoclonus, ataxia), cognitive and behavioural problems. Mutations in various genes are described in patients with juvenile parkinsonism, the Parkin gene being the most common. Patients with Parkin, PINK1 and DJ1 mutations have a similar phenotype that resembles that of idiopathic PD, although the disease often has an earlier onset and slower progression of the symptoms. Autosomal-dominant forms of JP are characterized by incomplete penetrance, a mean age of onset most often in the fifth decade and good response to dopaminergic treatment.
Pathological variants in LRRK2 and VPS35 have been demonstrated in patients with parkinsonism resembling the idiopathic form of PD, whereas mutations in SNCA have been described in cases of atypical parkinsonism. Usually, a good or excellent initial response to levodopa is observed, although this is complicated by levodopa-induced dyskinesias and motor fluctuations


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How to Cite

Aleksandrova, I., Asenova, A., & Bojinova, V. (2023). Autosomal-dominant and autosomal-recessive form of Juvenile parkinsonism – part I. Bulgarian Neurology, 24(3), 101–106. Retrieved from