Selected box plots for metabolites of interest for PD (left) and RLS (right).

<p>Selected box plots for metabolites of interest for PD (left) and RLS (right).</p

<i>NPC1/2</i> variant frequencies by group^a.

<p>PD = Parkinson's disease; FTLD = frontotemporal lobar degeneration;</p><p>PSP = progressive supranuclear palsy.</p><p>^a Absolute number of variant carriers, percentage of carriers within the group, <i>p</i> values.</p><p>^b Variants previously described as disease-causing in a NPC patient.</p><p>^c All rare (MAF<1%) variants detected in <i>NPC1</i> and <i>NPC2</i> (synonymous changes omitted).</p

Disease-associated <i>NPC1</i> and <i>NPC2</i> variants detected in individuals with PD, FTLD, PSP, and KORA-AGE controls.

<p>Frequencies as found in the 4300 European American exomes of the NHLBI exome sequencing project (NHLBI-ESP, <a href="http://evs.gs.washington.edu/EVS/" target="_blank">http://evs.gs.washington.edu/EVS/</a>) are given for all identified variants. PD = Parkinson's disease; FTLD = frontotemporal lobar degeneration; PSP = progressive supranuclear palsy; Freq = frequency; EA = European American.</p

Clinical characteristics of PD patients carrying disease-associated <i>NPC1/2</i> variants.

<p>PD = Parkinson's disease; Sex: M = male, F = female; wt = wild type; IS = initial symptom; B = bradykinesia; R = rigor; RT = resting tremor; PI = postural instability; D = dementia; DA = dopamine agonist.</p