| Literature DB >> 28892570 |
Letizia Straniero1, Ilaria Guella2, Roberto Cilia3, Laura Parkkinen4, Valeria Rimoldi1,5, Alexander Young2, Rosanna Asselta1,5, Giulia Soldà1,5, Vesna Sossi6, A Jon Stoessl6, Alberto Priori7, Kenya Nishioka8, Nobutaka Hattori8, Jordan Follett2, Alex Rajput9, Nenad Blau10, Gianni Pezzoli3, Matthew J Farrer2, Stefano Goldwurm3, Ali H Rajput9, Stefano Duga1,5.
Abstract
Biallelic DNAJC12 mutations were described in children with hyperphenylalaninemia, neurodevelopmental delay, and dystonia. We identified DNAJC12 homozygous null variants (c.187A>T;p.K63* and c.79-2A>G;p.V27Wfs*14) in two kindreds with early-onset parkinsonism. Both probands had mild intellectual disability, mild nonprogressive, motor symptoms, sustained benefit from small dose of levodopa, and substantial worsening of symptoms after levodopa discontinuation. Neuropathology (Proband-A) revealed no alpha-synuclein pathology, and substantia nigra depigmentation with moderate cell loss. DNAJC12 transcripts were reduced in both patients. Our results suggest that DNAJC12 mutations (absent in 500 early-onset patients with Parkinson's disease) rarely cause dopa-responsive nonprogressive parkinsonism in adulthood, but broaden the clinical spectrum of DNAJC12 deficiency. Ann Neurol 2017;82:640-646.Entities:
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Year: 2017 PMID： 28892570 DOI： 10.1002/ana.25048
Source DB: PubMed Journal: Ann Neurol ISSN： 0364-5134 Impact factor: 10.422