Author response: Peripheral synucleinopathy in a DJ1 patient with Parkinson disease, cataracts, and hearing loss

Abstract

We welcome the additional confirmed DJ1/PARK7 case and another probable case reported by Namnah et al. in their comment on our article.(1)They further substantiate the occurrence of early cataracts in DJ1/PARK7 present in 5/35 (14.3%) cases. The case reported by Namnah et al. also highlights lower and upper motor signs in DJ1/PARK7 patients. Lower motor neuron signs are now documented in 8/35 (22.9%) cases and upper motor neuron signs in 10/35 (28.6%) cases. Finally, it is notable that the 2 patients of Iranian-Jewish ancestry described by Namnah et al. carry a mutation recently identified in another family of Iranian-Jewish descent (GRCh37:NM_007262.4:c.80dupG, p[Ile31Aspfs*2]), consistent with a founder effect in this population.(2)