pinecone/core-2020-05-10-deduplication huggingface dataset:
Predictors of driving assessment outcome in Parkinson's Disease

This study evaluated selected clinical and functional tests as predictors of driving safety outcomes in Parkinson's Disease (PD) patients.  Twenty five PD patients and 21 age-matched controls, all regular drivers, underwent neurological evaluation and assessment of cognitive, visual and motor function and a standardised, on-road driving assessment. The capacity of the tests to predict pass/fail driving outcomes was determined by selecting a sub-set with the highest predictive value from each domain and then subjecting these to discriminant function analysis.  Accuracy, sensitivity, specificity and positive and negative predictive values were determined.  Three relatively simple tests from the larger battery predicted passes with relatively high sensitivity (PD: 72.7%, controls: 93.8%, both combined: 85.2%); and moderate specificity (PD: 64.3%, controls: 60.0%, both combined: 63.2%).  These tests assessed motor performance (Purdue Pegboard test), contrast sensitivity (Pelli-Robson test) and cognitive function (verbal version of Symbol Digit Modalities Test). Adding time since diagnosis for the PD group increased sensitivity to 90.9% and specificity to 71.4 %.  These simple tests confer more objectivity and predictive power to clinical recommendations for driving, they reflect distinct functions that are necessary for safe driving, and may be especially useful when on-road assessments are not feasible
Coordinating outcomes measurement in ataxia research: do some widely used generic rating scales tick the boxes?

The objective of this study was to examine the psychometric properties of four widely used generic health status measures in Friedreich's ataxia (FA), to determine their suitability as outcome measures. Fifty-six people with genetically confirmed FA completed the Barthel Index (BI), General Health Questionnaire (GHQ-12), EuroQol (EQ-5D), and Medical Outcomes Study 36-item Short Form Health Survey (SF-36) by means of postal survey. Six psychometric properties (data quality, scaling assumptions, acceptability, reliability, validity, and responsiveness) were examined. The response rate was 97%. In general, the psychometric properties of the four measures satisfied recommended criteria. However, closer examination highlighted limitations restricting their use for treatment trials. For example, the BI had high levels of missing data, EQ-5D had poor discriminant ability, and five SF-36 scales had high floor and/or ceiling effects. Most scale scores did not span the entire scale range, had means that differed notably from the scale mid-point, and had wide confidence intervals. Effect sizes (ES) were small for all four measures raising questions about their ability to detect clinically significant change. Results highlight the potential limitations of these four scales for evaluating health outcomes in FA and suggest the need for new disease-specific patient-based measures of its impact
Turning in Parkinson's disease patients and controls: the effect of auditory cues

Turning is an impaired activity in persons with Parkinson's disease (PwPD). The current study examines the turning characteristics in PwPD (9 freezers and 10 nonfreezers) and 9 controls, and explores the effect of rhythmic auditory cues while turning. Turning parameters were collected from a 180 degrees left U-turn during a noncued and a cued condition, using a 3D measuring system. Auditory cues were supplied with a metronome at a rhythm equaling the subject's comfortable step frequency during straight line walking. Results showed that in contrast to controls, PwPD used a wider turning-arc and took smaller, narrower steps. In addition, they demonstrated a higher Coefficient of Variation (CV) of step duration (6.92%) compared to controls (4.88%, P < 0.05). The "wide-arc" turning strategy of PwPD was more prominent in freezers than in nonfreezers. Auditory cues reduced the CV of step duration in PwPD (both freezers and nonfreezers) during turning (from 6.92 to 6.00%, P < 0.05). In summary: Cueing reduced the gait-timing variability during turning, but PwPD maintained a wider arc to turn compared with controls.status: publishe
Coupling between limb tremor and postural sway in Parkinson's disease

Increased tremor and postural instability are motor problems commonly associated with Parkinson's disease (PD). Despite the similarity between these oscillatory forms, little is known about the relation between them, especially for individuals with enhanced tremor. This study was designed to examine the nature of any relation between center of pressure (COP) excursions and postural/resting limb tremor of young, older individuals, and Parkinsonian participants in their different medication states. The resting and postural tremor for the PD participants was characterized by a single, prominent peak frequency between 4 and 7 Hz. The postural tremor for young/older participants contained smaller peaks between 1 to 4 and 7 to 12 Hz although no prominent peak was seen in their resting tremor. The AP and ML COP dynamics of all participants was characterized by a major peak between 0.1 and 0.5 Hz. An additional peak was observed in the COP output of the PD participants between 4 and 7 Hz. While no tremor-COP coupling was observed for the young/old groups, coherence analysis revealed a significant degree of coupling between COP motion and tremor between 4 and 7 Hz for PD participants. These results highlight that the amplified tremor in PD can manifest itself in COP dynamics. This finding may have implications for postural stability for this patient group. © 2007 Movement Disorder Societ
Treadmill walking in Parkinson's disease patients: adaptation and generalization effect

[Abstract] We examined the adaptation and generalization effect of one familiarization treadmill walking session on gait in patients with Parkinson's disease (PD) with different degrees of disease severity. Eight moderate PD patients (Hoehn and Yahr stage 2–2.5), eight advanced PD patients (Hoehn and Yahr 3), and eight matched control subjects participated in this study. Subjects first walked overground on a 10-m walkway at a self-selected speed (pretreadmill). They then performed a 20-min treadmill training session, followed by three trials of overground walking (Post1, Post2, Post3). Cadence, step length, speed, and coefficient of variation of stride time (CV) were recorded. During the treadmill session the advanced PD patients significantly decreased their cadence (t = 3.9, P ≤ 0.01) and increased their step length (t = 4.27, P ≤ 0.01) compared with pretreadmill walking. After the treadmill, all subjects walked overground significantly faster (F = 16.51 P ≤ 0.001) and with a larger step length (F = 13.03 P ≤ 0.01) than pretreadmill walking. The present study shows a specific adaptation to walk over the treadmill for the advanced PD patients. Moreover, this confirms the potential therapeutic use of the treadmill for PD gait rehabilitation since a single familiarization session lead to an increase in the step length and thus to the improvement of the main gait impairment in PD. © 2008 Movement Disorder Societ
Genetic association study of the P-type ATPase ATP13A2 in late-onset Parkinson's disease

A role of ATP13A2 in early-onset Parkinsonism (EOP) has been proposed. Conversely, the contribution of this ATPase to late-onset Parkinson's disease (PD) remains unexplored. We therefore conducted a case-control association study in this age-of-onset group with PD. The initial sample was of German origin and consisted of 220 patients with late-onset PD (mean age of onset 60.1 years) and 232 age-matched unrelated controls. Five single nucleotide polymorphisms (SNPs) covering ATP13A2 and its common haplotypes were genotyped. The overall association results in this sample were negative. Interestingly, gender stratification gave a positive result for SNP rs11203280 (P(UNC) = 0.016) in men. This result could not be reproduced in a replication sample of German and Serbian origin composed of 161 patients with late-onset PD (mean age of onset 51.7 years) and 150 age- and ethnic-matched controls. In conclusion, we found no consistent evidence for an association between ATP13A2 and late-onset PD
Effect of whole body vibration in Parkinson's disease: a controlled study

[Abstract] In the search of new strategies to improve the quality of life of Parkinson's disease patients, recent work has reported an amelioration of Parkinsonian symptoms using Whole Body Vibration (WBV). A double-blinded, placebo controlled design was used to evaluate the effect of a 12 WBV sessions-programme on a number of motor and clinical tests in 23 Parkinson's disease patients. Patients were assigned to one of two groups, one receiving WBV and the other a placebo group. At the end of the programme as well as during intra-session evaluation, there was no difference between the experimental (vibration) and placebo groups in any outcomes. These results suggest that reported benefits of vibration are due to a placebo response.Xunta de Galicia (Consellería de Educación-2007/000140-0 and Dirección Xeral de I+D+i; PGIDIT06PXIC137004PN), Spai
Self-rated health status in spinocerebellar ataxia--results from a European multicenter study.

Abstract: Patient-based measures of subjective health status\ud
are increasingly used as outcome measures in interventional\ud
trials. We aimed to determine the variability and predictors\ud
of subjective health ratings in a possible target group for\ud
future interventions: the spinocerebellar ataxias (SCAs). A\ud
consecutive sample of 526 patients with otherwise unexplained\ud
progressive ataxia and genetic diagnoses of SCA1\ud
(117), SCA2 (163), SCA3 (139), and SCA6 (107) were\ud
enrolled at 18 European referral centers. Subjective health\ud
status was assessed with a generic measure of health related\ud
quality of life, the EQ-5D (Euroqol) questionnaire. In addition,\ud
we performed a neurological examination and a screening\ud
questionnaire for affective disorders (patient health questionnaire).\ud
Patient-reported health status was compromised in\ud
patients of all genotypes (EQ-5D visual analogue scale (EQVAS)\ud
mean 61.45 6 20.8). Specifically, problems were\ud
reported in the dimensions of mobility (86.9% of patients),\ud
usual activities (68%), pain/discomfort (49.4%), depression/\ud
anxiety (46.4%), and self care (38.2%). Multivariate analysis\ud
revealed three independent predictors of subjective health status:\ud
ataxia severity, extent of noncerebellar involvement, and\ud
the presence of depressive syndrome. This model explained\ud
30.5% of EQ-VAS variance in the whole sample and might\ud
be extrapolated to other SCA genotypes
Neurological symptoms in patients with biopsy proven celiac disease

In celiac disease (CD), the gut is the typical manifestation site but atypical neurological presentations are thought to occur in 6 to 10% with cerebellar ataxia being the most frequent symptom. Most studies in this field are focused on patients under primary neurological care. To exclude such an observation bias, patients with biopsy proven celiac disease were screened for neurological disease. A total of 72 patients with biopsy proven celiac disease (CD) (mean age 51 +/- 15 years, mean disease duration 8 +/- 11 years) were recruited through advertisements. All participants adhered to a gluten-free diet. Patients were interviewed following a standard questionnaire and examined clinically for neurological symptoms. Medical history revealed neurological disorders such as migraine (28%), carpal tunnel syndrome (20%), vestibular dysfunction (8%), seizures (6%), and myelitis (3%). Interestingly, 35% of patients with CD reported of a history of psychiatric disease including depression, personality changes, or even psychosis. Physical examination yielded stance and gait problems in about one third of patients that could be attributed to afferent ataxia in 26%, vestibular dysfunction in 6%, and cerebellar ataxia in 6%. Other motor features such as basal ganglia symptoms, pyramidal tract signs, tics, and myoclonus were infrequent. 35% of patients with CD showed deep sensory loss and reduced ankle reflexes in 14%. Gait disturbances in CD do not only result from cerebellar ataxia but also from proprioceptive or vestibular impairment. Neurological problems may even develop despite strict adherence to a gluten-free diet. (c) 2009 Movement Disorder Society
The changing face of Parkinson's disease-associated psychosis: a cross-sectional study based on the new NINDS-NIMH criteria.

International audienceNew criteria for Parkinson's disease-associated psychosis (PDAP) were recently proposed by a NINDS-NIMH working group. We assessed 116 consecutive unselected outpatients with PD for the existence of psychotic symptoms during the previous month, using a structured questionnaire covering the whole spectrum of PDAP symptoms. Hallucinations occurred in 42% of the patients (visual: 16%; nonvisual: 35%), delusions in 4%, and minor symptoms in 45% (sense of presence, visual illusions, or passage hallucinations). The prevalence of PDAP was 43% when the usual definition was used (hallucinations and/or delusions) and 60% when the NINDS-NIHM criteria were used. Correlations between PDAP and patient characteristics varied with the definition of PDAP. These findings suggest that the epidemiology of PDAP should be re-evaluated with the new criteria. Minor symptoms and nonvisual hallucinations are an important part of the PDAP spectrum, which has commonly been restricted to visual hallucinations and delusions
Controlled trial on the effect of 10 days low-frequency repetitive transcranial magnetic stimulation (rTMS) on motor signs in Parkinson´s disease

[Abstract] We evaluated the effect of low-frequency rTMS
on motor signs in Parkinson’s disease (PD), under a doubleblind
placebo-controlled trial design. PD patients were randomly
assigned to received either real (n 5 9) or sham (n 5
9) rTMS for 10 days. Each session comprises two trains of
50 stimuli each delivered at 1 Hz and at 90% of daily rest
motor threshold using a large circular coil over the vertex.
The effect of the stimulation, delivered during the ON-period,
was evaluated during both ON and OFF periods. Tests were
carried out before and after the stimulation period, and again
1 week after. The effect of the stimulation was evaluated
through several gait variables (cadence, step amplitude, velocity,
the CVstride-time, and the turn time), hand dexterity,
and also the total and motor sections of the UPDRS. Only
the total and motor section of the UPDRS and the turn time
during gait were affected by the stimulation, the effect
appearing during either ON or OFF evaluation, and most
importantly, equally displayed in both real and sham group.
The rest of the variables were not influenced. We conclude
the protocol of stimulation used, different from most protocols
that apply larger amount of stimuli, but very similar to
some previously reported to have excellent results, has no
therapeutic value and should be abandoned. This contrasts
with the positive reported effects using higher frequency and
focal coils. Our work also reinforces the need for sham stimulation
when evaluating the therapeutic effect of
rTMS.Xunta de Galicia
(Consellería de Educación-2007/000140-0; Dirección
Xeral de I+D+i PGIDIT06PXIC137004PN and INCITE09
137 379 PR) and MICIIN (BFU2009-08169), Spain
Benign hereditary chorea: clinical and neuroimaging features in an Italian family.

Abstract: Benign hereditary chorea is an autosomal domi- nant disorder characterized by early onset nonprogressive chorea, caused by mutations of the thyroid transcription factor-1 (TITF-1) gene. Clinical heterogeneity has been reported and thyroid and respiratory abnormalities may be present. We describe 3 patients of an Italian family carrying the S145X mutation in the TITF-1 gene with mild motor delay, childhood onset dyskinesias, and subtle cognitive impairment. A child in the third generation pre- sented with congenital hypothyroidism and neonatal respi- ratory distress. Imaging studies in 2 patients showed mild ventricular enlargement and empty sella at magnetic reso- nance imaging and hypometabolism of basal ganglia and cortex at 18-Fluoro-2-deoxy-glucose positron emission tomography
A novel automatic method for monitoring Tourette motor tics through a wearable device

The aim of this study was to propose a novel automatic method for quantifying motor-tics caused by the Tourette Syndrome (TS). In this preliminary report, the feasibility of the monitoring process was tested over a series of standard clinical trials in a population of 12 subjects affected by TS. A wearable instrument with an embedded three-axial accelerometer was used to detect and classify motor tics during standing and walking activities. An algorithm was devised to analyze acceleration data by: eliminating noise; detecting peaks connected to pathological events; and classifying intensity and frequency of motor tics into quantitative scores. These indexes were compared with the video-based ones provided by expert clinicians, which were taken as the gold-standard. Sensitivity, specificity, and accuracy of tic detection were estimated, and an agreement analysis was performed through the least square regression and the Bland-Altman test. The tic recognition algorithm showed sensitivity = 80.8% ± 8.5% (mean ± SD), specificity = 75.8% ± 17.3%, and accuracy = 80.5% ± 12.2%. The agreement study showed that automatic detection tended to overestimate the number of tics occurred. Although, it appeared this may be a systematic error due to the different recognition principles of the wearable and video-based systems. Furthermore, there was substantial concurrency with the gold-standard in estimating the severity indexes. The proposed methodology gave promising performances in terms of automatic motor-tics detection and classification in a standard clinical context. The system may provide physicians with a quantitative aid for TS assessment. Further developments will focus on the extension of its application to everyday long-term monitoring out of clinical environments
An ITPR1 Gene Deletion Causes Spinocerebellar Ataxia 15/16: A Genetic, Clinical and Radiological Description

The purpose of this study was to characterise a novel family with very slowly progressive pure spinocerebellar ataxia (SCA) caused by a deletion in the inositol 1,4,5-triphosphate receptor 1 (ITPR1) gene on chromosome 3. This is a detailed clinical, genetic, and radiological description of the genotype. Deletions in ITPR1 have been shown to cause SCA15/SCA16 in six families to date. A further Japanese family has been identified with an ITPR1 point mutation. The exact prevalence is as yet unknown, but is probably higher than previously thought. The clinical phenotype of the family is described, and videotaped clinical examinations are presented. Serial brain magnetic resonance imaging studies were carried out on one affected individual, and genetic analysis was performed on several family members. Protein analysis confirmed the ITPR1 deletion. Affected subjects display a remarkably slow, almost pure cerebellar syndrome. Serial magnetic resonance imaging shows moderate cerebellar atrophy with mild inferior parietal and temporal cortical volume loss. Genetic analysis shows a deletion of 346,487 bp in ITPR1 (the second largest ITPR1 deletion reported to date), suggesting SCA15 is due to a loss of ITPR1 function. Western blotting of lymphoblastoid cell line protein confirms reduced ITPR1 protein levels. SCA15 is a slowly or nonprogressive pure cerebellar ataxia, which appears to be caused by a loss of ITPR1 function and a reduction in the translated protein. Patients with nonprogressive or slowly progressive ataxia should be screened for ITPR1 defects
Falls in Parkinson's disease : kinematic evidence for impaired head and trunk control

Changes in stride characteristics and gait rhythmicity characterize gait in Parkinson's disease and are widely believed to contribute to falls in this population. However, few studies have examined gait in PD patients who fall. This study reports on the complexities of walking in PD patients who reported falling during a 12-month follow-up. Forty-nine patients clinically diagnosed with idiopathic PD and 34 controls had their gait assessed using three-dimensional motion analysis. Of the PD patients, 32 (65%) reported at least one fall during the follow-up compared with 17 (50%) controls. The results showed that PD patients had increased stride timing variability, reduced arm swing and walked with a more stooped posture than controls. Additionally, PD fallers took shorter strides, walked slower, spent more time in double-support, had poorer gait stability ratios and did not project their center of mass as far forward of their base of support when compared with controls. These stride changes were accompanied by a reduced range of angular motion for the hip and knee joints. Relative to walking velocity, PD fallers had increased mediolateral head motion compared with PD nonfallers and controls. Therefore, head motion could exceed “normal” limits, if patients increased their walking speed to match healthy individuals. This could be a limiting factor for improving gait in PD and emphasizes the importance of clinically assessing gait to facilitate the early identification of PD patients with a higher risk of falling
Freezing of gait in Parkinson's disease: The impact of dual-tasking and turning

Background: Turning is the most important trigger for freezing of gait (FOG) in Parkinson's disease (PD), and dual-tasking has been suggested to influence FOG as well. Objective: To understand the effects of dual tasking and turning on FOG. Methods: 14 Freezers and 14 non-freezers matched for disease severity and 14 age-matched controls were asked to turn 180 degrees and 360 degrees with and without a cognitive dual-task during the off-period of the medication cycle. Total number of steps, duration, cadence, freezing-frequency, and secondary-task performance were measured. Results: Seven freezers froze during the protocol. Freezing occurred in 37.5% of trials during 180 degrees turning compared to 0% during straight-line walking (X(2) = 10.44, p < 0.01). The occurrence of FOG increased during 360 degrees when also a dual-task was added (X(2) = 4.23, p = 0.04). Freezers took significantly more steps and were slower than controls in all conditions. The presence of a dual-task increased these differences. Cadence increased significantly for freezers during 360 degrees and 180 degrees compared to straight-line walking. In contrast, cadence was decreased during turning in controls and non-freezers. During straight-line walking, only freezers made errors in the secondary task. Controls increased their error-rate during 180 degrees turning, whereas freezers deteriorated their secondary task performance during 360 degrees . Conclusions: 360 degrees turning in combination with a dual-task is the most important trigger for freezing. During turning, non-freezers and controls decreased their cadence whereas freezers increased it, which may be related to FOG. Freezers adopted a posture second strategy in contrast to non-freezers when confronted with a dual task. (c) 2010 Movement Disorder Society.status: publishe