Clinical, positron emission tomography, and pathological studies of DNAJC13 p.N855S Parkinsonism. Issue 13 (3rd September 2014)

• Record Type: Journal Article
• Authors: Appel‐Cresswell, Silke; Rajput, Ali H; Sossi, Vesna; Thompson, Christina; Silva, Vanessa; McKenzie, Jessamyn; Dinelle, Katherine; McCormick, Siobhan E.; Vilariño‐Güell, Carles; Stoessl, A. Jon; Dickson, Dennis W; Robinson, Chris A.; Farrer, Matthew J.; Rajput, Alex
• Is Part Of: Movement disorders. Volume 29:Issue 13(2014)
• Page Start: 1684
• Page End: 1687
• Publication Date: 2014-09-03
• Subjects: Movement disorders -- Periodicals; 610
• DOI: 10.1002/mds.26019
• Languages: English
• ISSNs: 0885-3185

Abstract

<abstract abstract-type="main"> <title>Abstract</title> <sec id="mds26019-sec-0001" sec-type="section"> <title>Background</title> <p>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.</p> </sec> <sec id="mds26019-sec-0002" sec-type="section"> <title>Methods</title> <p>Family members were examined clinically longitudinally, and 5 underwent dopaminergic PET imaging. Four family members came to autopsy.</p> </sec> <sec id="mds26019-sec-0003" sec-type="section"> <title>Results</title> <p>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.</p> </sec> <sec id="mds26019-sec-0004" sec-type="section"> <title>Conclusion</title> <p>PD associated with a DNAJC13 p.N855S mutation presents as late‐onset, often slowly progressive, usually dopamine‐responsive typical PD. © 2014 International Parkinson and Movement Disorder Society</p> </sec> </abstract>