Skip to
  1. Homepage
  2. Rare diseases
  3. Search
Simple search

Simple search

(*) mandatory field


Other search option(s)

Young adult-onset Parkinsonism

Orpha number ORPHA2828
Synonym(s) Early-onset Parkinson disease
Familial Parkinson disease
Hereditary Parkinson disease
Young-onset Parkinson disease
Prevalence 1-5 / 10 000
  • Autosomal dominant
  • Autosomal recessive
Age of onset Adulthood
  • G20
MeSH -
MedDRA -


Young adult onset parkinsonism disease (YOPD) groups together all forms of Parkinsonism manifesting before 50 years of age. The cause, clinical presentation, clinical course and management of the early-onset forms differ from those of the classic form of the disease, which generally becomes apparent after 60 years of age.

In addition to rigidity, resting tremor, akinesis and asymmetry, YOPD is characterised by dystonic posture (often the first sign of the disease, predominantly affecting the lower limbs); sharp reactions; a high frequency of bradykinesia; trembling and rigidity; a good response to anti-Parkinson treatment; absence of cognitive defects and axial involvement; higher frequency and earlier onset of motor fluctuations and dyskinesis; increased frequency of mood swings and disturbances affecting family and professional life and slower clinical progression.

Diagnosis is made by analysis of the clinical signs of the disease and is confirmed by genetic analysis and cerebral scintigraphy of the dopamine transporters.

Differential diagnosis should consider a diverse range of diseases including the L-Dopa-sensitive dystonias, Wilson disease, Gaucher disease type 3, pantothenate kinase-associated neurodegeneration and the juvenile forms of Huntington disease or Dento-Rubro-Pallido-Luysian atrophy, and central basal ganglia lesions. These diseases may manifest as a form of Parkinson's diseasebut are usually associated with neurological signs or morphological cerebral anomalies.

Several forms of YOPD have been identified. Autosomal recessive forms with earlier onset are caused by mutations in the PARK2, PARK6 and PARK7 genes. Mutations in the LRRK2 gene, encoding dardarin, may be responsible for sporadic or dominantly inherited familial forms of the disease. Genetic counselling is recommended for familial forms and/or if screening for specific mutations is indicated. However, counselling remains controversial as the disease is debilitating but non-lethal and effective treatments are available. In addition, the penetrance of the various causative mutations has not yet been established.

Treatment is targeted towards combating the symptoms linked to dopaminergenic denervation, delaying the appearance of and treating the later complications associated with the treatment (motor fluctuations and dyskinesis) and managing the symptoms not responding to dopaminergenic treatment. The initial recommended treatment is monotherapy with dopaminergenic agonists. Non-ergot derivatives (peribidil, ropinirole, pramipexole, rotigotine) should be administered in preference to ergot derivatives (bromocriptine, lisuride, pergolide) as a result of the small risk of cardiopulmonary and retroperitoneal fibrosis. Relatively early introduction of L-Dopa, which is often effective against the motor symptoms of the disease, should be discussed together with the possibility of minimising the risk of fluctuations in the effectiveness of the therapy by administration of catechol-O-methyl-transferase (COMT) inhibitors (entacapone, tolcapone). In the later stages of the disease, subtle adaptation of the drugs comprising the polytherapy should allow the therapeutic equilibrium to be maintained. Treatment should be accompanied by professional, personal and familial management of patients. When the pharmacological approach is no longer sufficient to allow a good quality of life, a surgical approach involving bilateral stimulation of the subthalamic ganglion, may be discussed.

Expert reviewer(s)

  • Dr Emmanuel ROZE

(*) Required fields.

Attention: Only comments seeking to improve the quality and accuracy of information on the Orphanet website are accepted. For all other comments, please send your remarks via contact us. Only comments written in English can be processed.

Captcha image

Detailed information

Clinical genetics review
  • EN (2012)
Get Acrobat Reader
The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.