Clinical, positron emission tomography, and pathological studies of DNAJC13 p.N855S Parkinsonism

Silke Appel-Cresswell, Ali H. Rajput, Vesna Sossi, Christina Thompson, Vanessa Silva, Jessamyn Mckenzie, Katherine Dinelle, Siobhan E. Mccormick, Carles Vilariño-Güell, A. Jon Stoessl, Dennis W. Dickson, Chris A. Robinson, Matthew J. Farrer, Alex Rajput

Research output: Contribution to journalArticle

12 Scopus citations

Abstract

Background: Families of Dutch-German-Russian Mennonite descent with multi-incident parkinsonism have been identified as harboring a pathogenic DNAJC13 p.N855S mutation and are awaiting clinical and pathophysiological characterization. Methods: Family members were examined clinically longitudinally, and 5 underwent dopaminergic PET imaging. Four family members came to autopsy. Results: Of the 16 symptomatic DNAJC13 mutation carriers, 12 had clinically definite, 3 probable, and 1 possible Parkinson's disease (PD). Symptoms included bradykinesia, tremor, rigidity, and postural instability, with a mean onset of 63 years (range, 40-85) and slow progression. Eight of ten subjects who required treatment had a good levodopa response; motor complications and nonmotor symptoms were observed. Dopaminergic PET imaging revealed rostrocaudal striatal deficits typical for idiopathic PD in established disease and subtle abnormalities in incipient disease. Pathological examinations revealed Lewy body pathology. Conclusion: PD associated with a DNAJC13 p.N855S mutation presents as late-onset, often slowly progressive, usually dopamine-responsive typical PD.

Original languageEnglish (US)
Pages (from-to)1684-1687
Number of pages4
JournalMovement Disorders
Volume29
Issue number13
DOIs
StatePublished - Nov 1 2014

Keywords

  • DNAJC13
  • Familial PD
  • Lewy Body Pathology
  • Mennonite
  • Parkinson's disease (PD)
  • Positron Emission Tomography (PET)

ASJC Scopus subject areas

  • Neurology
  • Clinical Neurology

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    Appel-Cresswell, S., Rajput, A. H., Sossi, V., Thompson, C., Silva, V., Mckenzie, J., Dinelle, K., Mccormick, S. E., Vilariño-Güell, C., Stoessl, A. J., Dickson, D. W., Robinson, C. A., Farrer, M. J., & Rajput, A. (2014). Clinical, positron emission tomography, and pathological studies of DNAJC13 p.N855S Parkinsonism. Movement Disorders, 29(13), 1684-1687. https://doi.org/10.1002/mds.26019