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The PINK1 phenotype can be indistinguishable from idiopathic Parkinson disease

From the National Neurologic Institute "Carlo Besta" and Università Cattolica del Sacro Cuore (Drs. Albanese, Romito, and Elia), Milan, IRCCS CSS (Drs. Valente, Bellacchio and Dallapiccola), Mendel Institute, Rome; and Department of Experimental Medicine and Pathology (Dr. Dallapiccola), La Sapienza University, Rome, Italy.

Address correspondence and reprint requests to Dr. Alberto Albanese, Istituto Nazionale Neurologico Carlo Besta, Via G. Celoria, 11, 20133 Milan, Italy; e-mail: alberto.albanese{at}unicatt.it

Mutations in the PINK1 gene cause autosomal recessive parkinsonism characterized by early onset and a variable phenotypic presentation. A patient homozygous for the Ala168Pro mutation has been fully characterized clinically. Apart from onset at age 39 years and the excellent and sustained response to levodopa, all clinical and laboratory features, including SPECT and assessment of autonomic function, were indistinguishable from typical idiopathic Parkinson disease.

Additional material related to this article can be found on the Neurology Web site. Go to www.neurology.org and scroll down the Table of Contents for the June 14 issue to find the link for this article.

Supported by Telethon grant no. GGP04291 and by the Italian Ministry of Health (Ricerca Finalizzata 2003).

Received January 21, 2005. Accepted in final form March 1, 2005.

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