Peripheral synucleinopathy in a DJ1 patient with Parkinson disease, cataracts, and hearing loss
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.
Neurology