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.尽管帕金森病（PD）多为散发性，但50岁前起病的PD可合并遗传异常，其中包括DJ1基因（PARK7）的罕见双等位基因突变[1]。DJ1表型目前尚未被完全阐明，既往推测其与帕金蛋白（PARK2）表型相似：该表型通常无典型临床特征，且与特发性PD不同，不存在突触核蛋白病且嗅觉保留[2]。目前尚不清楚DJ1相关PD患者是否存在外周突触核蛋白病与嗅觉功能障碍。