Accuracy rates (mean ± standard deviation) and reactions times (mean ± standard deviation; measurement unit: ms) obtained for the PD patients group and the group of healthy control participants within each task (PI = prosody identification, SI = semantics identification, VI = vowel identification).

<p>Accuracy rates (mean ± standard deviation) and reactions times (mean ± standard deviation; measurement unit: ms) obtained for the PD patients group and the group of healthy control participants within each task (PI =  prosody identification, SI =  semantics identification, VI  =  vowel identification).</p

Reaction times (mean ± standard deviation, measurement unit: ms) corresponding to congruent (CT), low conflict (LT) and high conflict trials (HT) as well as reaction time differences (mean ± standard deviation, measurement unit: ms) among trials obtained within each task (PI = prosody identification, SI = semantics identification, VI = vowel identification).

<p>Note: Slight discrepancies between (CT-HT)/(CT-LT)/(LT-HT) subtraction values and mean difference values reported in this table are due to rounding.</p

Reaction times (mean±standard deviation, measurement unit: ms) corresponding to congruent (CT), low conflict (LT) and high conflict trials (HT) as well as reaction time differences (mean±standard deviation, measurement unit: ms) between the different trial types obtained within each task (PI = prosody identification, SI = semantics identification, VI = vowel identification) and experimental group.

<p>Note: Slight discrepancies between (CT-HT)/(CT-LT)/(LT-HT) subtraction values and mean difference values reported in this table are due to rounding. Similarly discrepancies between overall means and corresponding averages of values reported for the patient group and healthy control group are introduced by rounding effects.</p

Results of post-hoc comparisons computed for significant main effects and interactions obtained from the GROUP × TASK × PROSODIC CATEGORY × WORD CONTENT ANOVA with accuracy rates as dependent variable.

<p>PI =  prosody identification, SI =  semantics identification, VI =  vowel identification; CT =  congruent trials,</p><p>HT =  high conflict trials, LT =  low conflict trials, n.s. =  not significant</p

Results of post-hoc comparisons computed for significant main effects and interactions obtained from the STIMULATOR STATUS × TASK × PROSODIC CATEGORY × WORD CONTENT ANOVA with accuracy rates as dependent variable.

<p>PI =  prosody identification, SI =  semantics identification, VI =  vowel identification; CT =  congruent trials,HT =  high conflict trials, LT =  low conflict trials, n.s. =  not significant</p

Results of post-hoc comparisons computed for significant main effects and interactions obtained from the STIMULATOR STATUS × TASK × PROSODIC CATEGORY × WORD CONTENT ANOVA with reaction times as dependent variable.

<p>PI =  prosody identification, SI =  semantics identification, VI =  vowel identification; CT =  congruent trials, HT =  high conflict trials, LT =  low conflict trials, pos =  positive, neg =  negative, neu  =  neutral, n.s. =  not significant</p

Demographic and neuropsychological data (mean ± standard deviation) for the Parkinson's disease patients group and the group of healthy control participants.

<p>Demographic and neuropsychological data (mean ± standard deviation) for the Parkinson's disease patients group and the group of healthy control participants.</p

Data_Sheet_1_Long-Term Effect of GPi-DBS in a Patient With Generalized Dystonia Due to GLUT1 Deficiency Syndrome.DOCX

<p>Treatment outcomes from pallidal deep brain stimulation are highly heterogeneous reflecting the phenotypic and etiologic spectrum of dystonia. Treatment stratification to neurostimulation therapy primarily relies on the phenotypic motor presentation; however, etiology including genetic factors are increasingly recognized as modifiers of treatment outcomes. Here, we describe a 53 year-old female patient with a progressive generalized dystonia since age 25. The patient underwent deep brain stimulation of the globus pallidus internus (GPi-DBS) at age 44. Since the clinical phenotype included mobile choreo-dystonic features, we expected favorable therapeutic outcome from GPi-DBS. Although mobile dystonia components were slightly improved in the long-term outcome from GPi-DBS the overall therapeutic response 9 years from implantation was limited when comparing “stimulation off” and “stimulation on” despite of proper electrode localization and sufficient stimulation programming. In order to further understand the reason for this limited motor symptom response, we aimed to clarify the etiology of generalized dystonia in this patient. Genetic testing identified a novel heterozygous pathogenic SLC2A1 mutation as cause of glucose transporter type 1 deficiency syndrome (GLUT1-DS). This case report presents the first outcome of GPi-DBS in a patient with GLUT1-DS, and suggests that genotype relations may increasingly complement phenotype-based therapy stratification of GPi-DBS in dystonia.</p

Video_1_Long-Term Effect of GPi-DBS in a Patient With Generalized Dystonia Due to GLUT1 Deficiency Syndrome.MOV

<p>Treatment outcomes from pallidal deep brain stimulation are highly heterogeneous reflecting the phenotypic and etiologic spectrum of dystonia. Treatment stratification to neurostimulation therapy primarily relies on the phenotypic motor presentation; however, etiology including genetic factors are increasingly recognized as modifiers of treatment outcomes. Here, we describe a 53 year-old female patient with a progressive generalized dystonia since age 25. The patient underwent deep brain stimulation of the globus pallidus internus (GPi-DBS) at age 44. Since the clinical phenotype included mobile choreo-dystonic features, we expected favorable therapeutic outcome from GPi-DBS. Although mobile dystonia components were slightly improved in the long-term outcome from GPi-DBS the overall therapeutic response 9 years from implantation was limited when comparing “stimulation off” and “stimulation on” despite of proper electrode localization and sufficient stimulation programming. In order to further understand the reason for this limited motor symptom response, we aimed to clarify the etiology of generalized dystonia in this patient. Genetic testing identified a novel heterozygous pathogenic SLC2A1 mutation as cause of glucose transporter type 1 deficiency syndrome (GLUT1-DS). This case report presents the first outcome of GPi-DBS in a patient with GLUT1-DS, and suggests that genotype relations may increasingly complement phenotype-based therapy stratification of GPi-DBS in dystonia.</p

Pan-neuronal knockdown of <i>mortalin</i> induced autophagy at the larval NMJ.

<p>(<b>A</b>) <i>Drosophila</i> VNCs of control (elav<i>>white^RNAi</i>) and elav<i>>mort^GD</i> larvae labeled with the autophagosomal ATG8-mRFP marker. No obvious change in the ATG8-mRFP signal was detected upon <i>mortalin</i> knockdown. Gamma values were adjusted to 0.75 Scale bar: 50 µm. (<b>B</b>) Autophagosomes were detected as the strong accumulation of ATG8-mRFP signal at the <i>Drosophila</i> NMJ. The false color look-up table “Green-Fire-Blue” allows the separation of autophagosomes from the diffuse ATG8-mRFP signal. Scale bar: 10 µm. (<b>C</b>) Confocal images of synaptic boutons at NMJ 4 in control (elav<i>>white^RNAi</i>) and elav<i>>mort^GD</i> larvae. Neuronal membranes and autophagosomes are shown in green and magenta, respectively. Scale bar: 5 µm. (<b>D, E</b>) Statistical analysis revealed increases in ATG8-mRFP puncta abundance (<b>D</b>) and size (<b>E</b>). Statistical significance was determined by using an unpaired, two-tailed Student’s t-test.</p