Abstract
Mutations in the parkin gene are the most frequent cause of early onset, autosomal recessive familial Parkinson’s disease (PD) and isolated juvenile-onset parkinsonism occurring before age 20. Age at onset is typically between childhood and age 40. Patients with the parkin mutation are more likely than other PD patients to have symmetrical involvement, focal limb dystonia, and hyperreflexia at onset. Later they enjoy a very good response to levodopa but may develop levodopa-induced motor fluctuations. Although the rate of progression of PARK2-related parkinsonism is usually relatively slow, there are no specific clinical signs which distinguish these individuals from patients with other causes of PD.
Keywords
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.
This chapter contains a video segment which can be found at the URL: https://doi.org/10.1007/978-1-60327-426-5_13
This is a preview of subscription content, log in via an institution.
Buying options
Tax calculation will be finalised at checkout
Purchases are for personal use only
Learn about institutional subscriptionsReferences
Kitada T, Asakawa S, Hattori N, et al. Mutations in the parkin gene cause autosomal recessive juvenile parkinsonism. Nature. 1998;392:605–8.
Lucking CB, Durr A, Bonifati V, et al. Association between early-onset Parkinson’s disease and mutations in the parkin gene. N Eng J Med. 2000;342:1560–7.
Author information
Authors and Affiliations
Electronic Supplementary material
PD due to PARK2.mp4 (MP4 6,372KB)
Facial expression is normal. The patient displays impaired finger-tapping bilaterally. Gait is normal with reduced right arm swing. Pull testing reveals retropulsion (Video contribution from Dr. Yoshikuni Mizuno, Juntendo University School of Medicine, Tokyo, Japan).
Rights and permissions
Copyright information
© 2012 Springer Science+Business Media New York
About this chapter
Cite this chapter
Bhidayasiri, R., Tarsy, D. (2012). Parkinson’s Disease Due to PARK2. In: Movement Disorders: A Video Atlas. Current Clinical Neurology. Humana, Totowa, NJ. https://doi.org/10.1007/978-1-60327-426-5_13
Download citation
DOI: https://doi.org/10.1007/978-1-60327-426-5_13
Published:
Publisher Name: Humana, Totowa, NJ
Print ISBN: 978-1-60327-425-8
Online ISBN: 978-1-60327-426-5
eBook Packages: MedicineMedicine (R0)