Journal article
DNAJC12 and dopa-responsive nonprogressive parkinsonism
- 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) r...
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- Publication status:
- Published
- Peer review status:
- Peer reviewed
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Authors
Funding
Pacific Parkinson's Research Institute
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Bibliographic Details
- Publisher:
- Wiley Publisher's website
- Journal:
- Annals of Neurology Journal website
- Volume:
- 82
- Issue:
- 4
- Pages:
- 640-646
- Publication date:
- 2017-10-11
- Acceptance date:
- 2017-09-07
- DOI:
- EISSN:
-
1531-8249
- ISSN:
-
0364-5134
Item Description
- Pubs id:
-
pubs:745548
- UUID:
-
uuid:ce5bb16a-ca95-44d4-b91a-4ea383076d12
- Local pid:
- pubs:745548
- Source identifiers:
-
745548
- Deposit date:
- 2017-11-13
Terms of use
- Copyright holder:
- American Neurological Association
- Copyright date:
- 2017
- Notes:
- This is the accepted manuscript version of the article. The final version is available online from the publisher at: https://doi.org/10.1002/ana.25048. © 2017 American Neurological Association. Published by John Wiley and Sons Ltd.
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