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

We read with interest the article by Narendra et al.1 that described a patient with Parkinson disease (PD) and young-onset bilateral cataracts associated with compound heterozygous DJ1 (PARK7) mutations. This observation confirms a suspected association between young-onset cataracts and DJ1-PD that was previously reported in 2 other cases.2,3 We report here an additional case that further strengthens this genotype-phenotype correlation and indicates that DJ1 mutations should be suspected in PD cases with young-onset cataracts.

[1]  P. Lockhart,et al.  Familial early onset Parkinson's disease caused by a homozygous frameshift variant in PARK7: Clinical features and literature update. , 2019, Parkinsonism & related disorders.

[2]  D. Goldstein,et al.  Peripheral synucleinopathy in a DJ1 patient with Parkinson disease, cataracts, and hearing loss , 2019, Neurology.

[3]  Hidetaka Mitsumura,et al.  Transcranial color-coded sonography findings of patients with reversible cerebral vasoconstriction syndromes , 2019, Journal of Clinical Neuroscience.

[4]  A. Singhal,et al.  RCVS2 score and diagnostic approach for reversible cerebral vasoconstriction syndrome , 2019, Neurology.

[5]  N. Hattori,et al.  MDSGene: Closing Data Gaps in Genotype-Phenotype Correlations of Monogenic Parkinson’s Disease , 2018, Journal of Parkinson's disease.

[6]  Yen-Feng Wang,et al.  Vascular wall imaging in reversible cerebral vasoconstriction syndrome – a 3-T contrast-enhanced MRI study , 2018, The Journal of Headache and Pain.

[7]  P. Petramfar,et al.  A Clinical and Molecular Genetic Study of 50 Families with Autosomal Recessive Parkinsonism Revealed Known and Novel Gene Mutations , 2017, Molecular Neurobiology.

[8]  E. Bertini,et al.  DJ‐1 modulates mitochondrial response to oxidative stress: clues from a novel diagnosis of PARK7 , 2017, Clinical genetics.

[9]  M. Frosch,et al.  Reversible cerebral vasoconstriction syndromes and primary angiitis of the central nervous system: clinical, imaging, and angiographic comparison , 2016, Annals of neurology.