Reflexive and voluntary saccadic eye movements as biomarker of Huntington's Disease.

INTRODUCTION: Subtle abnormalities in the preclinical stage of Huntington's Disease (HD) can be detected using saccadic eye movement assessment reflecting disease progression. This study was aimed to evaluate abnormalities in saccade parameters in asymptomatic carriers and symptomatic HD patients at various stages of HD. MATERIAL AND METHODS: The study enrolled 104 participants, including 14 asymptomatic carriers of HTT mutations, 44 symptomatic HD patients, and 46 control subjects. HD severity was measured using the Unified Huntington's Disease Rating Scale Total Motor Score (UHDRS-TMS) and Total Functional Capacity Scale (TFC). The evaluation of rapid eye movements (reflexive saccades, anti-saccades, memory-guided saccades) was carried out using 'Saccadometer Research'. RESULTS: Measures of reflexive and volitional saccades did not differ between the asymptomatic carriers and controls. Significant latency prolongation and increased physiological variability of latency times, as well as higher error rates among HD patients, were found in all saccade tasks (p < 0.001) compared to the controls. Abnormalities in saccade parameters were more pronounced in the advanced stages of the disease. Latency of saccades and error rate of volitional saccades correlated with the UHDRS-TMS and TFC scores. CONCLUSIONS: The saccade parameters in asymptomatic HD carriers with a long time to disease development were similar to those in the control group. Saccade abnormalities appeared in symptomatic patients at the beginning of the disease, and correlated with HD severity.

Virtual Reality for Upper Limb Rehabilitation in Subacute and Chronic Stroke: A Randomized Controlled Trial.

OBJECTIVE: To evaluate the effectiveness of reinforced feedback in virtual environment (RFVE) treatment combined with conventional rehabilitation (CR) in comparison with CR alone, and to study whether changes are related to stroke etiology (ie, ischemic, hemorrhagic). DESIGN: Randomized controlled trial. SETTING: Hospital facility for intensive rehabilitation. PARTICIPANTS: Patients (N=136) within 1 year from onset of a single stroke (ischemic: n=78, hemorrhagic: n=58). INTERVENTIONS: The experimental treatment was based on the combination of RFVE with CR, whereas control treatment was based on the same amount of CR. Both treatments lasted 2 hours daily, 5d/wk, for 4 weeks. MAIN OUTCOME MEASURES: Fugl-Meyer upper extremity scale (F-M UE) (primary outcome), FIM, National Institutes of Health Stroke Scale (NIHSS), and Edmonton Symptom Assessment Scale (ESAS) (secondary outcomes). Kinematic parameters of requested movements included duration (time), mean linear velocity (speed), and number of submovements (peak) (secondary outcomes). RESULTS: Patients were randomized in 2 groups (RFVE with CR: n=68, CR: n=68) and stratified by stroke etiology (ischemic or hemorrhagic). Both groups improved after treatment, but the experimental group had better results than the control group (Mann-Whitney U test) for F-M UE (P<.001), FIM (P<.001), NIHSS (P≤.014), ESAS (P≤.022), time (P<.001), speed (P<.001), and peak (P<.001). Stroke etiology did not have significant effects on patient outcomes. CONCLUSIONS: The RFVE therapy combined with CR treatment promotes better outcomes for upper limb than the same amount of CR, regardless of stroke etiology.

The influence of motor ability rehabilitation on temporal-spatial parameters of gait in Huntington's disease patients on the basis of a three-dimensional motion analysis system: An experimental trial.

OBJECTIVE: There is no existing standard, evidence-based, scientific model for motor ability improvement in Huntington's Disease (HD) patients aimed at maintaining independent gait for as long as possible, or performing activities of daily living, the effectiveness of which would be supported by the results of studies using objective research tools. Under these circumstances, the aim of this study was to analyze the influence of motor ability rehabilitation on the spatial-temporal parameters of gait in HD patients. DESIGN: It was an experimental trial. The studied group consisted of 30 patients (17 women and 13 men) with HD. In hospital conditions, the patients participated in the 3-week motor ability l rehabilitation programme tailored to individual needs. The study group was tested using the Vicon 250 three-dimensional gait analysis system before and after the physical exercise programme. RESULTS: Walking speed after therapy increased for the left lower limb from 1.06 (SD 0.24) [m/s] to 1.21 (SD 0.23) [m/s], and for the right lower limb from 1.07 (SD 0.25) [m/s] to 1.20 (SD 0.25) [m/s]. The cycle length increased after the applied therapy for the left lower limb from 1.17 (SD 0.20) [m] to 1.23 (SD 0.19) [m]. CONCLUSION: The three-week motor ability rehabilitation programme positively influences spatial-temporal gait parameters in HD patients.

Alpha-2-antiplasmin Arg407Lys polymorphism and cryptogenic ischemic cerebrovascular events: Association with neurological deficit.

OBJECTIVE: Genetic background of cryptogenic ischemic stroke (IS) and transient ischemic attack (TIA) remains uncertain. Alpha-2-antiplasmin (α2AP) Arg407Lys polymorphism has been shown to be less common in patients with abdominal aortic aneurysm (AAA) compared with healthy controls. We investigated associations of α2AP Arg407Lys polymorphism with cryptogenic IS and TIA. METHODS: We studied 165 consecutive Caucasian patients who experienced cryptogenic IS (n=123) or TIA (n=42). Neurological outcomes were assessed using the modified Rankin Scale (mRS) in the acute phase of cerebral ischemia and 8 (6-12) months after the index episode. Patients were genotyped for α2AP Arg407Lys polymorphism (rs1057335) using real time PCR technique. RESULTS: The allele frequency of Arg407Lys polymorphism was: 0.82/0.18. The 407Lys allele was more frequent in TIA patients compared to the IS group (0.29 vs. 0.14, p=0.003). In the whole group, as well as in IS and TIA patients analyzed separately, possession of the 407Lys allele was associated with excellent outcome (mRS 0-1) during follow-up (p<0.05) but not in the acute phase of ischemic events both in thrombolyzed and nonthrombolyzed IS patients. The multivariate logistic regression model showed that the excellent outcome (mRS 0-1) assessed after 8 (6-12) months since the index cerebral ischemia was predicted by the occurrence of Lys407 allele (OR 6.18, 95% CI, 2.01-18.98, p=0.001). CONCLUSION: The presence of 407Lys allele is associated with better prognosis in cryptogenic cerebrovascular events. Our findings suggest that the α2AP Arg407Lys polymorphism could be involved in the pathogenesis of cerebral ischemia and its outcomes.

The relation between plasma α-synuclein level and clinical symptoms or signs of Parkinson's disease.

INTRODUCTION: Parkinson disease (PD) is the common neurodegenerative disease. α-Synuclein (ASN), main aggregating protein in neural cells of CNS in PD, was found in peripheral fluids. Testing ASN in plasma is potential test for diagnose PD, but previous studies are controversial. The aim of this study was to investigate if plasma ASN level may be a valuable biomarker, is the level of plasma ASN concentration different in various motor subtypes of diseases, is there a relation between the level of plasma ASN and the severity of motor symptoms. METHODS: Patients with PD hospitalized in Neurology Department, Medical College were performed sequencing the 8th and 9th exon of GBA gene. Next plasma ASN level was tested in 58 patients with sequenced GBA gene and in 38 healthy volunteers (HV), matched by the age (respectively 68.43 vs. 64.57 years of age) and sex (female %, respectively: 43.10 vs.44.74). Patients were assessed with the scales: UPDRS (II, III, IV), Hoehn-Yahr (HY) and qualified to PIGD or TD subtype. For homogeneity of the group patients with GBA mutation were excluded from the analysis. RESULTS: The ASN level did not differ between patients and HV (respectively: 4.53 vs. 3.73ng/ml) and between patients with different subtypes. There was inverse correlation between ASN and HY in PIGD subtype. CONCLUSIONS: Plasma ASN level is not valuable marker of the disease. It does not differ in subtypes of the disease. There is relation between plasma ASN level and the severity of the disease in PIGD subtype.

Eye movements in essential tremor patients with parkinsonian and cerebellar signs.

Apart from intention tremor essential tremor (ET) patients may display other cerebellar signs, like dysmetria or tandem gait disturbances as well as parkinsonian signs like resting tremor, cogwheel sign, subtle bradykinesia. Previous reports claimed the occurrence of the eye movement abnormalities characteristic for dysfunction of cerebellar dorsal vermis in ET patients with concomitant cerebellar signs. There are no previous reports evaluating the eye movement abnormalities in ET patients with concomitant parkinsonian signs. The objective of this study was to determine the relationship between the occurrence of parkinsonian and cerebellar signs and the oculomotor abnormalities in ET patients. METHOD: Fifty ET patients including 6 (12.0%) patients with concomitant parkinsonian signs (ET-P), 20 (40.0%) patients with cerebellar signs (ET-C), 7 (14.0%) with mixed parkinsonian and cerebellar signs (ET-M), 17 (34.0%) patients with the only tremor (ET-T) together with 42 healthy controls were included to the study. Reflexive, pace-induced and cued saccades were recorded using Saccadometer Advanced. Smooth pursuit and fixation were tested using EOG. RESULTS: Latency of pace-induced saccades was significantly longer in ET-C and ET-M patients compared to ET-T and ET-P patients. Latency of cued saccades was significantly longer in ET-M patients compared to ET-T. There were no significant differences of the eye movement parameters between ET-P patients compared to ET-T patients. CONCLUSION: In ET patient with concomitant cerebellar signs prolonged volitional saccades latency was detected. There are no particular differences in the eye movements in ET patients with concomitant parkinsonian signs compared to ET patients without concomitant signs.

Opposite effects of l-dopa and DBS-STN on saccadic eye movements in advanced Parkinson's disease.

OBJECTIVE: To assess the effects of l-dopa and deep brain stimulation of the subthalamic nucleus (DBS-STN) on saccadic eye movements in patients with Parkinson's disease (PD). METHODS: Visually and internally guided horizontal saccades were evaluated using a saccadometer in 64 patients with advanced PD and 48 healthy controls. Forty-four pharmacologically treated patients were assessed in their "med-off" (OFF) and "med-on" (ON) status, whereas 20 DBS-STN treated patients were assessed in their "med-off, stim-off" (OFF) and "med-off, stim-on" (ON) status. RESULTS: In all PD patients the saccades in the OFF status were delayed, slower and smaller (p<0.01) than in controls. In pharmacologically treated patients all studied parameters showed tendency to worsen in the ON status as compared to the OFF status. In contrast, activating DBS-STN showed tendency to improve all studied parameters. Comparison of the studied saccade parameters between the ON status of DBS-STN treated patients, ON status of the pharmacologically treated patients and the controls showed that 73% of these parameters in the DBS-STN treated patients were similar as in the controls. While in the pharmacologically treated patients only 26% of these parameters were similar as in the controls. CONCLUSION: This prospective study comparing the influence of l-dopa and DBS-STN on saccades in advanced PD showed contrasting results between these two treatments; the majority of the studied parameters in patients on DBS-STN were similar as in the controls.

The effect of the rehabilitation program on balance, gait, physical performance and trunk rotation in Parkinson's disease.

BACKGROUND: Parkinson's disease (PD) is a progressive, neurodegenerative disease which leads to postural and gait disorders, limitation in mobility, activities of daily living and disability. AIMS: The aim of the study is to assess the effects of the rehabilitation program on balance, gait, motor performance and trunk rotations in PD patients. METHODS: Sixty-four patients with 1.5-3.0 stage PD in the Hoehn and Yahr scale were randomly allocated to rehabilitation and control groups. Sixty-one patients completed the study. Patients were assessed three times, at month intervals. Between the first and second assessments, the rehabilitation group participated in a rehabilitation training program focused on mobility, balance and gait exercises, consisting of 28 sessions. Balance was assessed with tandem stance and the Pastor test (shoulder tug). Gait was assessed with a 10 m walk at preferred speed and 360° turn. Motor performance was evaluated by means of the Physical Performance Test (PPT) and timed motor activities. The trunk rotations were measured in the lumbar and thoraco-lumbar spine with a tape measure. RESULTS: The rehabilitation group significantly improved (p < 0.05) in balance and gait outcomes, PPT score, timed activities and trunk rotations both in comparison to the control group and baseline results. The positive effects of the exercise program maintained for at least 1 month. CONCLUSION: The 4-week rehabilitation training program focused on mobility, balance and gait exercises improved balance, gait, physical performance and trunk rotations in patients with PD.

A case report of patient with cerebellar variant of stiff person syndrome.

Stiff person syndrome (SPS) is a rare autoimmune neurological disorder with antibodies against antigens involved in neurotransmission of gamma-aminobutyric acid (GABA). About 10% of patients with SPS may develop ataxia. This cerebellar variant is a distinct subset of SPS with more severe and complex clinical phenotype. We report the clinical, neuropsychological and neuroradiological findings in a 39-year-old female with cerebellar variant of SPS.

Suicidality and its determinants among Polish patients with epilepsy.

BACKGROUND AND PURPOSE: The aim of this study was to evaluate the prevalence of suicidal ideation among Polish patients with epilepsy and to assess the potential determinants of suicidality in this cohort. MATERIAL AND METHODS: The study comprised 301 patients with epilepsy seen in the tertiary epilepsy clinic. Patients' characteristics included demographic variables, epilepsy-related variables, as well as occurrence of comorbidities, ongoing use of any other medications, family history of epilepsy and/or depression. Beck Depression Inventory (BDI) was used to assess depressive symptoms, and question no. 9 of BDI was specifically used to reveal suicidality. RESULTS: Mean age of subjects was 35.5 years. 113 (37.5%) had frequent seizures and 96 patients (31.9%) had remission. BDI score>11 points (suggestive for depression) was found in 127 subjects. Suicidal ideation has been revealed in 30 (10.0%) out of 301 studied patients. Patients with suicidal ideation were older and more commonly reported frequent seizures. Almost all of them (93.3%) had clinically significant depressive symptoms (BDI score>11). Multivariate analysis revealed that severity of depressive symptoms (OR=1.16 per one-point increase in BDI score, 95% CI: 1.10-1.22, p<0.001) and the use of potentially depressogenic medication (OR=3.04, 95% CI: 1.04-8.89, p=0.04) were independent determinants of suicidality among studied patients. CONCLUSIONS: Suicidal ideations were revealed by about 10% of studied epileptic patients who visited tertiary center for epilepsy. Independent predictors of suicidality among studied patients included depression itself and the use of potentially depressogenic medication.

Is hypertension a risk factor of hemifacial spasm?

OBJECTIVES: The published data on the relation between arterial hypertension (AH) and hemifacial spasm (HFS) are controversial. The aim of the study was to determine the prevalence of AH in HFS patients and the relation of AH and compression of the brainstem at the region of vasomotor center. MATERIALS AND METHODS: The study included 60 of primary HFS patients and 60 healthy controls matched by age. AH was defined according to WHO criteria. The vessel compression of the brainstem was measure on MRI scans in selected region of vasomotor center located in the ventro-lateral medulla (VLM), between the pontomedullary junction, retro-olivary sulcus and the root entry zone (REZ) of the IX and X nerves. Modeling and compression severity of the VLM was graded in the 0-3 scale. RESULTS: The prevalence of AH in HFS patients did not differ significantly from the control group (61.6% vs 45.0%, p=ns). VML compression by vessel was frequently found in HFS patients with AH than without AH (97.2% vs 60.9%, χ(2)=11.0, p=0.0009). A similar relation was also found in the control group. The higher rate of VML vascular compression was related to the presence of AH in both, HFS patients and control group. CONCLUSION: The prevalence of AH in HFS patients does not differ from controls. The VLM compression in HFS patients and controls is related to AH diagnosis. The association between AH and VLM compression is stronger in patients with higher degree of VLM compression.

The Evaluation of Abnormal Voice Qualities in Patients with Amyotrophic Lateral Sclerosis.

OBJECTIVE: Voice abnormalities are among the symptoms occurring in patients with amyotrophic lateral sclerosis (ALS). They are divergent and range from hoarseness, through the excessive adduction of false folds, up to the weakness of the vocal folds. The aim of the study was to analyze the phonatory function of the larynx in ALS patients. METHODS: Seventeen patients with ALS were evaluated with subjective perceptual voice assessment (including the GRBAS scale), videolaryngostroboscopy including voice range and maximum phonation time (MPT), and objective acoustic voice analysis with IRIS software (including evaluation of jitter, shimmer, mean fundamental frequency, and noise-to-harmonics ratio (NHR)). Examinations were performed three times at 6-month intervals. RESULTS: Hoarseness, roughness, and breathiness of voice were all found more frequently in the majority of these patients. Voice range, amplitude of vibration, mucosal wave, and glottal closure showed significant abnormalities with repeated examinations. MPT was shortened especially among women with ALS. Acoustic analysis of voice among men showed increased jitter value in the first examination only, while jitter, shimmer, and NHR in women with ALS were increased in all examinations. CONCLUSIONS: Analysis of voice qualities among patients with ALS allows for the detection of various abnormalities associated with the natural progression of the disease.

Subtypes of interictal depressive disorders according to ICD-10 in patients with epilepsy.

BACKGROUND AND PURPOSE: The purpose of the study was to evaluate the frequency of interictal depressive symptoms and different subtypes of depressive disorders according to 10th revision of the International Classification of Diseases (ICD-10) criteria in patients with epilepsy and its association with the type of epilepsy. MATERIAL AND METHODS: 289 outpatients with epilepsy (169 females, 120 males) aged 18-82 years completed Beck Depression Inventory (BDI). Subjects who scored >11 in BDI were further evaluated by the psychiatrist according to the ICD-10 diagnostic criteria. RESULTS: 41.9% (121) of the 289 participants scored >11 in BDI. 104 (85.9%) patients who scored >11 in BDI had comorbid mental disorders according to ICD-10 criteria. The most common were organic mood disorders (F06.3 - 31.4%), depressive episode (F32 - 22.3%) and dysthymia (F34.1 - 9.1%) There were no differences in the prevalence of depression and subtypes of depression in patients with certain epilepsy types. Depression was diagnosed before entering the study in only one third of patients with final diagnosis of depression. CONCLUSIONS: Our results confirm the prevailing view that interictal depression is common in epilepsy patients. Depression remains underrecognized and undertreated in patients with epilepsy.

The effects of physiotherapy with PNF concept on gait and balance of patients with Huntington's disease - pilot study.

BACKGROUND AND PURPOSE: Huntington's disease (HD) is a neurodegenerative, progressive disorder of the central nervous system which causes significant gait and balance disturbances. This is a pilot study which aims to determine the effects of a physiotherapy programme with use of Proprioceptive Neuromuscular Facilitation (PNF) on gait and balance in HD patients. MATERIAL AND METHODS: 30 HD patients aged 21-60 with genetically confirmed diagnosis participated in the study. Participants followed a 3-week-long PNF-based physiotherapy programme. Gait and balance were evaluated twice in each participant: first at baseline and then after the course of physiotherapy. The following methods were used for gait disturbances: Tinetti Gait Assessment Tool, Up and Go Test, Timed Walking Tests for 10m and 20m (TWT10m, TWT20m). Balance was assessed with use of Berg Balance Scale, Pastor Test and Functional Reach Test. RESULTS: There was a significant improvement in all measures of balance and gait. CONCLUSION: PNF-based physiotherapy is effective and safe in HD patients.

Saccadic eye movements in juvenile variant of Huntington disease.

BACKGROUND AND PURPOSE: Huntington disease (HD) is a neurodegenerative disease leading to involuntary movements, cognitive and behavior decline. The juvenile variant of HD (JHD) manifests in people younger than 21 and is characterized by a different clinical presentation, i.e. rigidity and bradykinesia. Rapid eye movements were not extensively studied in patients with JHD. Aims of our study were to describe the saccadic eye movements in JHD patients and to find a correlation between the saccade abnormalities, severity of the disease and cognitive and behavior deterioration. MATERIALS AND METHODS: We studied 10 patients with JHD and 10 healthy subjects. Reflexive and volitional saccades were assessed with the Saccadometer Advanced. The battery of cognitive and behavior tests was performed as well. RESULTS: We found a prolonged latency, slowness and decreased velocity of reflexive and voluntary saccades and reduced amplitude of voluntary saccades. Moreover, patients with JHD executed a significantly lower number of volitional saccades and made more incorrect cued saccades than controls. We noted a significant correlation between prolonged latency of reflexive saccades with gap task and disease severity and significant inverse correlation between prolonged latency of reflexive saccades with overlap task, an increased number of incorrect saccades made on a cue and impairment in working memory. CONCLUSION: Abnormalities of saccade eye movements in patients with JHD were similar to those reported in patients with HD. Our findings did not confirm abnormalities previously reported in patients with early onset HD. Abnormal saccade parameters correlated also with a disease severity and cognitive deterioration.

Cognitive impairment in carriers of glucocerebrosidase gene mutation in Parkinson disease patients.

AIM: Parkinson disease (PD) is the common neurodegenerative disease with motor and numerous non-motor symptoms, including cognitive impairment. Mutation of glucocerebrosidase (GBA) gene is the most common genetic risk factor of sporadic PD. The aim of this study was to assess clinical features of PD associated with GBA mutation. METHODS: One hundred and thirty-eight PD patients were involved and examined by the movement disorder specialist using several scales including Unified Parkinson Disease Rating Scale (UPDRS) part II and III, Hoehn and Yahr (H&Y) staging, Mini-Mental State Examination (MMSE) and Hamilton Depression Scale (HDS). The exons 8 and 9 of GBA was sequenced and screened for variants. RESULTS: The GBA variants were found in 16 (11.6%) PD patients: N370S mutation in 5 (3.6%) and T369M variant in 11 (7.9%). No significant differences between the group of mutation carriers and non-carriers were found in relation to clinical features except for dementia (MMSE score<26) occurring more often in N370S mutation carriers (60.0% vs 19.6%, p=0.03). CONCLUSION: The N370S GBA mutation is the risk factor for cognitive impairment in PD patients.

Deep brain stimulation in the treatment of Holmes tremor - a long-term case observation.

We present the patient with Holmes tremor secondary to the infarction of thalamus, successfully treated with the deep brain stimulation (DBS) of the area between ventralis oralis anterior and zona incerta for a long time, in whom the severe tremor reappeared after removal of the DBS lead. This is the first presentation of the effective DBS on this location. Our case does not support the hypothesis that the DBS treatment could lead to sustained relief of symptoms after cessation of stimulation.

Small volume of the posterior cranial fossa and arterial hypertension are risk factors of hemifacial spasm.

OBJECTIVES: So far, there are only two studies evaluating the relation between the small volume of the posterior cranial fossa (VPCF) and the occurrence of HFS, both on Asian population. The aim of the study was to determine small VPCF and arterial hypertension (AH), as risk factors for hemifacial spasm (HFS) and their relation to neurovascular conflict (NVC) in Polish Caucasian-origin patients. MATERIALS AND METHODS: The study included 60 patients with idiopathic HFS and 60 healthy volunteers matched by sex and age. AH was defined according to WHO. The VPCF measured the volume of the prepontine, prespinal and both cerebellopontine angle cisterns in MRI scans. RESULTS: There were no significant differences between occurrence of AH and the VPCF of patients and controls but the mean VPCF in women was significantly smaller than in men, In the multivariate regression analysis model only NVC was the statistically significant. In the subgroup of >50-year-old patients the most dominant risk factor was NVC (OR 71.09; 95% CI 21.08-239.77; p=0.0000), followed by the AH duration (OR 1.07; 95% CI 1.00-1.16; p=0.047). In the subgroup of <50 years, NVC was also the dominant risk factor, followed by the lower VPCF (Walad test: OR 0.4; 95% CI 0.16-1.04; p=0.045). CONCLUSION: There was no significant difference in VPCF and in frequency of AH diagnosis in HFS patients and age- and sex-related controls, but the logistic regression analysis showed that small VPCF and AH duration are risk factors of HFS in younger and older patients respectively.

The AGTR1 gene A1166C polymorphism as a risk factor and outcome predictor of primary intracerebral and aneurysmal subarachnoid hemorrhages.

Associations between the angiotensin II type 1 receptor (AGTR1) gene A1166C polymorphism and hypertension, aortic abdominal aneurysms (as a risk factor) as well as cardiovascular disorders (as a risk factor and an outcome predictor) have been demonstrated. We aimed to investigate the role of this polymorphism as risk factors and outcome predictors in primary intracerebral hemorrhage (PICH) and aneurysmal subarachnoid hemorrhage (aSAH). We have prospectively recruited 1078 Polish participants to the study: 261 PICH patients, 392 aSAH patients, and 425 unrelated control subjects. The A1166C AGTR1 gene polymorphism was studied using the tetra-primer ARMS-PCR method. Allele and genotype frequencies were compared with other ethnically different populations. The A1166C polymorphism was not associated with the risk of PICH or aSAH. Among the aSAH patients the AA genotype was associated with a good outcome, defined by a Glasgow Outcome Scale of 4 or 5 (p<0.02). The distribution of A1166C genotypes in our cohort did not differ from other white or other populations of European descent. In conclusion, we found an association between the A1166C AGTR1 polymorphism and outcome of aSAH patients, but not with the risk of PICH or aSAH.

Dynamic cerebral autoregulation is compromised in ischaemic stroke of undetermined aetiology only in the non-affected hemisphere.

BACKGROUND AND PURPOSE: To assess dynamic cerebral autoregulation (CA) in patients with acute ischaemic stroke of undetermined aetiology, within 72h of stroke onset. MATERIALS AND METHODS: In 6 patients with ischaemic stroke of undetermined aetiology (aged 66±9 years, National Institutes of Health Stroke Scale [NIHSS] score on admission: 4.0, range: 4-11), selected based on screening of 118 consecutive ischaemic stroke patients and in 14 volunteers (aged 62±10 years), we continuously monitored RR intervals (RRI), mean arterial pressure (MAP) by means of photoplethysmography, mean cerebral blood flow velocity (CBFV) using transcranial Doppler ultrasonography, end-tidal CO2 (ETCO2) and respiration during 2-min deep breathing paced at 6min(-1) (0.1Hz). To assess CA, we evaluated the impact of breathing-induced MAP oscillations on fluctuations of CBFV in the hemispheres with stroke, the non-involved hemispheres and randomly selected hemispheres of controls by applying cross-spectral analysis and calculating coherence, transfer function gain (CBFV-MAP gain) and phase shift angle between the two oscillating signals. RESULTS: Phase shift angle between MAP and CBFV oscillations showed values >0 and was significantly reduced in the hemispheres without stroke as compared to controls (0.39±0.95 vs. -1.59±0.33rad, p=0.015), whereas in the hemispheres with stroke, phase shift angle did not differ significantly from that observed in the control hemispheres. Clinical status of stroke patients significantly improved at discharge from the hospital (NIHSS: 2.0, range: 1-8, p=0.028). CONCLUSIONS: During the first days of ischaemic stroke of undetermined aetiology, dynamic cerebral autoregulation is compromised in the non-affected hemisphere, but not in the hemisphere with ischaemic lesion.