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.
DNAJC12 and dopa-responsive nonprogressive parkinsonism / L. Straniero, I. Guella, R. Cilia, L. Parkkinen, V. Rimoldi, A. Young, R. Asselta, G. Soldã , V. Sossi, A.J. Stoessl, A. Priori, K. Nishioka, N. Hattori, J. Follett, A. Rajput, N. Blau, G. Pezzoli, M.J. Farrer, S. Goldwurm, A.H. Rajput, S. Duga. - In: ANNALS OF NEUROLOGY. - ISSN 0364-5134. - 82:4(2017 Oct), pp. 640-646.
|Titolo:||DNAJC12 and dopa-responsive nonprogressive parkinsonism|
|Parole Chiave:||adult; amyloid beta-peptides; anti-Parkinson agents; biogenic amines; brain; dna mutational analysis; DNA-binding proteins; family health; female; humans; levodopa; male; middle aged; mutation; parkinsonian disorders; phenylalanine; repressor proteins; sequestosome-1 protein; young adult; alpha-synuclein; tau proteins; neurology; neurology (clinical)|
|Settore Scientifico Disciplinare:||Settore MED/26 - Neurologia|
|Data di pubblicazione:||ott-2017|
|Digital Object Identifier (DOI):||http://dx.doi.org/10.1002/ana.25048|
|Appare nelle tipologie:||01 - Articolo su periodico|