Schematic representation of data obtained in measuring the starting head angle.

<p>Data obtained in measuring the starting head angle (SHA) in control subjects (CS) and patients with cervical dystonia (CD) are shown for rotational movements (RMs) intended for left and right sides in CS and ‘towards’ and ‘against’ dystonia in CD.</p

The experimental set up.

<p>A) Subjects were sitting comfortably under the focus of a high speed camera with a zenithal view. B) View from the camera. Note the stick marking the inion-to-nasion line and the shoulder markers. The subject is wearing the recording electrodes in the SCM and OO and the accelerometer attached to the chin.</p

Representative examples of EMG and accelerometer recordings.

<p>Representative examples of EMG and accelerometer recordings from control (A and C) and test trials (B and D) in one control subject (CS) and one patient with cervical dystonia (CD).</p

Clinical characteristics of patients (N = 15).

<p>Values are expressed as means, with the standard deviation within parenthesis.</p><p>TWSTRS, Toronto Western Spasmodic Torticollis Rating Scale; BTX, Botulinum Toxin.</p

Parametric data in healthy subjects and patients, separated into movements towards the dystonia side and those against the dystonia.

<p>FHA: Final head position angle, the angle between the inion-to-nasion line and the midline at the maximal angle reached in the RM.</p><p>RM: Rotational movements.</p

Estimated presence of nonmotor symptoms in <i>LRRK2</i> G2019S Parkinson’s disease patients and idiopathic Parkinson’s disease patients in relation to onset of motor symptoms.

<p><i>LRRK2</i> G2019S PD: <i>LRRK2</i> G2019S related Parkinson’s disease; IPD: Idiopathic Parkinson’s disease, OMS: onset of motor symptoms, RBD: REM sleep behavior disorder, EDS: excessive daytime sleepiness.</p><p>Estimated presence of nonmotor symptoms in <i>LRRK2</i> G2019S Parkinson’s disease patients and idiopathic Parkinson’s disease patients in relation to onset of motor symptoms.</p

University of Pennsylvania Smell Identification Test (UPSIT) scores.

<p>UPSIT scores in LRRK2 G2019S Parkinson’s disease patients, idiopathic Parkinson’s disease patients and healthy controls (<a href="http://www.plosone.org/article/info:doi/10.1371/journal.pone.0108982#pone-0108982-g001" target="_blank">Figure 1</a>.A). UPSIT score in each group separated by sex (<a href="http://www.plosone.org/article/info:doi/10.1371/journal.pone.0108982#pone-0108982-g001" target="_blank">Figure 1</a>.B). Circles represent individual values, while the bar refers to the mean UPSIT score in each group. IPD: idiopathic Parkinson’s disease; LRRK2-PD: LRRK2 associated Parkinson’s disease, HS: healthy subjects.</p

Nonmotor symptoms in patients with <i>LRRK2</i> G2019S associated Parkinson’s disease, idiopathic Parkinson’s disease and healthy subjects.

<p><i>LRRK2</i> G2019S PD: <i>LRRK2</i> G2019S-related Parkinson’s disease; IPD: Idiopathic Parkinson’s disease; HS: healthy subjects. G-I: Gastro-intestinal; RBD: REM behavior disorder; EDS: excessive daytime sleepiness.</p>#<p>Chi-square test;</p>±<p>Fisher’s exact test;</p>¶<p>Kruskal-Wallis analysis;</p>§<p>Mann-Whitney <i>U</i> test;</p><p>*Statistically significant: <i>P<</i>0.05;</p>1<p>Mean ± Standard deviation (Range);</p>2<p>Hyposmia was arbitrarily defined as an UPSIT score lower than the mean–2 SD UPSIT score obtained in a subset of healthy subjects of the same gender and similar age.</p><p>Nonmotor symptoms in patients with <i>LRRK2</i> G2019S associated Parkinson’s disease, idiopathic Parkinson’s disease and healthy subjects.</p

General demographic data and parkinsonian motor symptoms in patients with <i>LRRK2</i> G2019S associated Parkinson’s disease, idiopathic Parkinson’s disease and healthy subjects.

<p><i>LRRK2</i> G2019S PD: <i>LRRK2</i> G2019S related Parkinson’s disease; IPD: Idiopathic Parkinson’s disease; HS: healthy subjects.</p>1<p>Mean ± Standard deviation (Range).</p>¶<p>Kruskal-Wallis analysis;</p>§<p>Mann-Whitney U test;</p>#<p>Chi-square test;</p>±<p>Fisher’s exact test.</p><p>General demographic data and parkinsonian motor symptoms in patients with <i>LRRK2</i> G2019S associated Parkinson’s disease, idiopathic Parkinson’s disease and healthy subjects.</p

Polysomnography and Multiple Sleep Latency Test data and comparisons between groups.

<p>Data are presented as mean, standard deviation, number and percentage.</p><p>*MSLT was performed in 17 out of 18 LRRK2-PD patients since one refused to undergo this test. Percentages on MSLT measures are therefore based on these 17 subjects.</p><p><b>AHI</b>: Apnea-hipopnea index; <b>LRRK2-PD</b>: LRRK2 Parkinson disease; <b>Mentalis</b>: polysomnographic montage quantifying "any" (phasic and tonic) type of EMG activity in the mentalis muscle during REM sleep, using 3-sec mini-epochs (the cut-off for patients with RBD is 18%)[<a href="http://www.plosone.org/article/info:doi/10.1371/journal.pone.0132368#pone.0132368.ref038" target="_blank">38</a>]; <b>Mentalis plus AT</b>: polysomnographic montage quantifying "any" (phasic and tonic) type of EMG activity in the mentalis muscle plus phasic EMG activity in the right and left anterior tibialis during REM sleep, using 3-sec mini-epochs (the cut-off for patients with RBD is 46.4%) [<a href="http://www.plosone.org/article/info:doi/10.1371/journal.pone.0132368#pone.0132368.ref038" target="_blank">38</a>]; <b>MSLT</b>: Multiple Sleep Latency Test; <b>NMC</b>: non-manifesting carriers; <b>NMNC</b>: non-manifesting non-carriers; <b>NA</b>: Not applicable; <b>PLMS</b>: Periodic Leg Movements in Sleep; <b>PLMSI</b>: Periodic Leg Movements in Sleep Index; <b>RBD</b>: REM Sleep Behavior Disorder; <b>SINBAR</b>: polysomnographic montage quantifying "any" (phasic or tonic) type of EMG activity in the mentalis muscle and phasic EMG activity in the right and left flexor digitorumsuperficialis muscles during REM sleep, using 3-sec mini-epochs (the cut-off for patients with RBD is 32%)[<a href="http://www.plosone.org/article/info:doi/10.1371/journal.pone.0132368#pone.0132368.ref038" target="_blank">38</a>]; <b>SOREMPs</b>: Sleep Onset REM Sleep Periods.</p><p>Polysomnography and Multiple Sleep Latency Test data and comparisons between groups.</p