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.
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References
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.
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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).
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© 2012 Springer Science+Business Media New York
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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
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DOI: https://doi.org/10.1007/978-1-60327-426-5_13
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Publisher Name: Humana, Totowa, NJ
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