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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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Publisher copy:
10.1002/ana.25048

Authors


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Institution:
University of Oxford
Division:
MSD
Department:
Clinical Neurosciences
Role:
Author
More from this funder
Name:
European Research Council
Grant:
305444
More from this funder
Name:
TELETHON
Grant:
GTB12001
More from this funder
Name:
Italian Telethon Foundation
Grant:
GGP11164
More from this funder
Name:
Fondazione Cariplo
Grant:
2015-1017
More from this funder
Name:
Pacific Parkinson's Research Institute
Publisher:
Wiley
Journal:
Annals of Neurology More from this journal
Volume:
82
Issue:
4
Pages:
640-646
Publication date:
2017-10-11
Acceptance date:
2017-09-07
DOI:
EISSN:
1531-8249
ISSN:
0364-5134
Pubs id:
pubs:745548
UUID:
uuid:ce5bb16a-ca95-44d4-b91a-4ea383076d12
Local pid:
pubs:745548
Source identifiers:
745548
Deposit date:
2017-11-13

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