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) 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.

journal_name

Ann Neurol

journal_title

Annals of neurology

authors

Straniero L,Guella I,Cilia R,Parkkinen L,Rimoldi V,Young A,Asselta R,Soldà G,Sossi V,Stoessl AJ,Priori A,Nishioka K,Hattori N,Follett J,Rajput A,Blau N,Pezzoli G,Farrer MJ,Goldwurm S,Rajput AH,Duga S

doi

10.1002/ana.25048

subject

Has Abstract

pub_date

2017-10-01 00:00:00

pages

640-646

issue

4

eissn

0364-5134

issn

1531-8249

journal_volume

82

pub_type

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