Peripheral synucleinopathy in a DJ1 patient with Parkinson disease, cataracts, and hearing loss
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Whereas Parkinson disease (PD) is usually sporadic, PD with onset under 50 years old can be associated with genetic abnormalities, including rare biallelic mutations in the DJ1 gene (PARK7).1 The DJ1 phenotype is incompletely described and has been presumed to be similar to the Parkin (PARK2) phenotype, in which atypical clinical features are usually absent, and, in contrast to idiopathic PD, synucleinopathy is lacking and olfaction preserved.2 Whether DJ1 patients have peripheral synucleinopathy and olfactory dysfunction has been unknown.
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- © 2019 American Academy of Neurology
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Letters: Rapid online correspondence
- Author Response: Peripheral synucleinopathy in a DJ1 patient with Parkinson disease, cataracts, and hearing loss
- Derek P. Narendra, Assistant Clinical Investigator, NINDS Intramural Program
- Risa Isonaka, Research Fellow, NINDS Intramural Program
- Diana Nguyen, Research Fellow, NHGRI Intramural Program
- Alice B. Schindler, Genetic Counselor, NINDS Intramural Program
- Angela D. Kokkinis, Registered Nurse, NINDS Intramural Program
- Debra Ehrlich, Staff Clinician, NINDS Intramural Program
- Tanya M. Bardakjian, Genetic Counselor, University of Pennsylvania
- David S. Goldstein, Senior Investigator, NINDS Intramural Program
- Tsao-Wei Liang, Associate Professor, Jefferson University Hospital
- Pedro Gonzalez-Alegre, Associate Professor, University of Pennsylvania and Children Hospital of Philadelphia
Submitted July 13, 2019 - Reader response: Peripheral synucleinopathy in a DJ1 patient with Parkinson disease, cataracts, and hearing loss
- Montaser Namnah, Neurologist, Hadassah Medical Center
- Orly Elpeleg, Geneticist, Hadassah Medical Center
- Marc Gotkine, Neurologist, Hadassah Medical Center
- David Arkadir, Neurologist, Hadassah Medical Center
Submitted June 23, 2019
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