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https://www.readbyqxmd.com/read/28441826/-a-childhood-onset-rapid-onset-dystonia-parkinsonism-family-with-atp1a3-gene-mutation-and-literatures-review
#1
C L Zhang, F Yin, F He, N Gai, Z Q Shi, J Peng
Objective: To explore clinical characteristics, treatment, and prognosis of a family with childhood-onset rapid-onset dystonia parkinsonism (RDP) caused by ATP1A3 gene mutation and review literatures. Method: The clinical data of a RDP child, his brother and mother had been analyzed retrospectively. This family was admitted to Xiangya Hospital in January 2016. DNA samples were analyzed by the next-generation sequencing and confirmed by Sanger sequencing. Related literature from PubMed, Online Mendelian Inheritance in Man (OMIM), CNKI and Wanfang databases to date (up to October 2016) with"Rapid-onset dystonia-parkinsonism"RDP"DYT12" as key words was reviewed...
April 2, 2017: Zhonghua Er Ke za Zhi. Chinese Journal of Pediatrics
https://www.readbyqxmd.com/read/28436001/gait-instability-in-valproate-treated-patients-call-to-measure-ammonia-levels
#2
S Kipervasser, C E Elger, A D Korczyn, R D Nass, C M Quesada, M Y Neufeld
OBJECTIVE: Hyperammonemia induced by valproate (VPA) treatment may lead to several neurological and systemic symptoms as well as to seizure exacerbation. Gait instability and recurrent falls are rarely mentioned as symptoms, especially not as predominant ones. METHODS: We report five adult patients with frontal lobe epilepsy (FLE) who were treated with VPA and in whom a primary adverse effect was unstable gait and falls. RESULTS: There were four males and one female patients with FLE, 25-42-year-old, three following epilepsy surgery...
April 23, 2017: Acta Neurologica Scandinavica
https://www.readbyqxmd.com/read/28431829/utility-of-the-new-movement-disorder-society-clinical-diagnostic-criteria-for-parkinson-s-disease-applied-retrospectively-in-a-large-cohort-study-of-recent-onset-cases
#3
Naveed Malek, Michael A Lawton, Katherine A Grosset, Nin Bajaj, Roger A Barker, Yoav Ben-Shlomo, David J Burn, Tom Foltynie, John Hardy, Huw R Morris, Nigel M Williams, Nicholas Wood, Donald G Grosset
OBJECTIVE: To examine the utility of the new Movement Disorder Society (MDS) diagnostic criteria in a large cohort of Parkinson's disease (PD) patients. METHODS: Recently diagnosed (<3.5 years) PD cases fulfilling United Kingdom (UK) brain bank criteria in Tracking Parkinson's, a UK multicenter prospective natural history study were assessed by retrospective application of the MDS criteria. RESULTS: In 2000 cases, 1835 (91.7%) met MDS criteria for PD, either clinically established (n = 1261, 63...
April 12, 2017: Parkinsonism & related Disorders
https://www.readbyqxmd.com/read/28420978/resting-state-fmri-reveals-increased-subthalamic-nucleus-and-sensorimotor-cortex-connectivity-in-patients-with-parkinson-s-disease-under-medication
#4
Bo Shen, Yang Gao, Wenbin Zhang, Liyu Lu, Jun Zhu, Yang Pan, Wenya Lan, Chaoyong Xiao, Li Zhang
Functional connectivity (FC) between the subthalamic nucleus (STN) and the sensorimotor cortex is increased in off-medication patients with Parkinson's disease (PD). However, the status of FC between STN and sensorimotor cortex in on-medication PD patients remains unclear. In this study, resting state functional magnetic resonance imaging was employed on 31 patients with PD under medication and 31 healthy controls. Two-sample t-test was used to study the change in FC pattern of the STN, the FC strength of the bilateral STN was correlated with overall motor symptoms, while unilateral STN was correlated with offside motor symptoms...
2017: Frontiers in Aging Neuroscience
https://www.readbyqxmd.com/read/28411443/assessment-of-stability-during-gait-in-patients-with-spinal-deformity-a-preliminary-analysis-using-the-dynamic-stability-margin
#5
Anne-Laure Simon, Vipul Lugade, Kathie Bernhardt, A Noelle Larson, Kenton Kaufman
Daily living activities are dynamic, requiring spinal motion through space. Current assessment of spinal deformities is based on static measurements from full-spine standing radiographs. Tools to assess dynamic stability during gait might be useful to enhance the standard evaluation. The aim of this study was to evaluate gait dynamic imbalance in patients with spinal deformity using the dynamic stability margin (DSM). Twelve normal subjects and 17 patients with spinal deformity were prospectively recruited...
April 5, 2017: Gait & Posture
https://www.readbyqxmd.com/read/28377827/anti-yo-mediated-paraneoplastic-cerebellar-degeneration-associated-with-pseudobulbar-affect-in-a-patient-with-breast-cancer
#6
Allison N Martin, Patrick M Dillon, David E Jones, David R Brenin, David A Lapides
Paraneoplastic cerebellar degeneration (PCD) is a rare anti-Yo mediated paraneoplastic syndromes rarely that is infrequently associated with breast cancer. We present a case of a 52-year-old female presenting with diplopia, gait instability, dysarthria, dysphagia, nystagmus, and, most notably, new onset paroxysmal episodes of uncontrollable crying concerning for pseudobulbar affect (PBA). Serologic testing showed anti-Yo antibodies. The patient was found to have stage IIIA breast cancer as the inciting cause of the paraneoplastic syndrome...
2017: Case Reports in Oncological Medicine
https://www.readbyqxmd.com/read/28359285/atypical-periodic-alternating-nystagmus-responding-to-high-dose-intravenous-immunoglobulins-a-case-report
#7
Herminia Argente-Escrig, Luis Bataller, Claudio Krstulovic Roa, Vanesa Pérez Guillén, Herminio Perez Garrigues, Bonaventura Casanova Estruch
BACKGROUND: Acquired periodic alternating nystagmus (PAN) is a rare but well-defined syndrome that consists of a horizontal nystagmus that cyclically reverses its direction. PAN can be caused by degenerative, neoplastic, or toxic diseases of the cerebellum and, in a few cases, by subacute cerebellar ataxia of immune origin. CASE PRESENTATION: A 44-year-old man came to our attention because of rapidly progressive gait instability and blurred vision. Clinical examination showed PAN and a mild pancerebellar syndrome...
March 31, 2017: Journal of Neuroinflammation
https://www.readbyqxmd.com/read/28358829/lower-levels-of-uric-acid-and-striatal-dopamine-in-non-tremor-dominant-parkinson-s-disease-subtype
#8
Ismael Huertas, Silvia Jesús, José Antonio Lojo, Francisco Javier García-Gómez, María Teresa Cáceres-Redondo, Juan Manuel Oropesa-Ruiz, Fátima Carrillo, Laura Vargas-Gonzalez, Juan Francisco Martín Rodríguez, Pilar Gómez-Garre, David García-Solís, Pablo Mir
Parkinson's disease (PD) patients who present with tremor and maintain a predominance of tremor have a better prognosis. Similarly, PD patients with high levels of uric acid (UA), a natural neuroprotectant, have also a better disease course. Our aim was to investigate whether PD motor subtypes differ in their levels of UA, and if these differences correlate with the degree of dopamine transporter (DAT) availability. We included 75 PD patients from whom we collected information about their motor symptoms, DAT imaging and UA concentration levels...
2017: PloS One
https://www.readbyqxmd.com/read/28352485/lateral-lumbar-interbody-fusion-for-ossification-of-the-yellow-ligament-in-the-lumbar-spine-first-reported-case
#9
Kengo Fujii, Tetsuya Abe, Toru Funayama, Hiroshi Noguchi, Keita Nakayama, Kousei Miura, Katsuya Nagashima, Hiroshi Kumagai, Masashi Yamazaki
When ossification of the yellow ligament (OYL) occurs in the lumbar spine and extends to the lateral wall of the spinal canal, facetectomy is required to remove all of the ossified lesion and achieve decompression. Subsequent posterior fixation with interbody fusion will then be necessary to prevent postoperative progression of the ossification and intervertebral instability. The technique of lateral lumbar interbody fusion (LLIF) has recently been introduced. Using this procedure, surgeons can avoid excess blood loss from the extradural venous plexus and detachment of the ossified lesion and the ventral dura mater is avoidable...
2017: Case Reports in Orthopedics
https://www.readbyqxmd.com/read/28346294/diagnosis-and-treatment-of-vestibular-neuritis-neuronitis-or-peripheral-vestibulopathy-pvp-open-questions-and-possible-answers
#10
Stefan C A Hegemann, Angela Wenzel
The acute vestibular syndrome is a clinically defined entity consisting of vertigo or dizziness that develops acutely over minutes to hours and is accompanied by nausea/vomiting, gait instability, head motion intolerance, and nystagmus, while persisting over a day or more. When it is caused by a peripheral vestibular lesion and is not associated with clinically manifest auditory deficits, it is mostly labeled vestibular neuritis/neuronitis/neuropathy or sometimes peripheral vestibulopathy. Here, we propose hypotheses and discuss current research advances on viral or vascular factors in the pathogenesis, the recurrence, the site of lesion, old and new treatment options, contraindicated measures, the differential diagnosis, and the prognosis of vestibular neuritis/neuronitis/neuropathy or vestibulopathy...
March 24, 2017: Otology & Neurotology
https://www.readbyqxmd.com/read/28332604/phenotype-of-postural-instability-gait-difficulty-in-parkinson-disease-relevance-to-cognitive-impairment-and-mechanism-relating-pathological-proteins-and-neurotransmitters
#11
Li-Jun Zuo, Ying-Shan Piao, Li-Xia Li, Shu-Yang Yu, Peng Guo, Yang Hu, Teng-Hong Lian, Rui-Dan Wang, Qiu-Jin Yu, Zhao Jin, Ya-Jie Wang, Xiao-Min Wang, Piu Chan, Sheng-Di Chen, Yong-Jun Wang, Wei Zhang
Parkinson disease (PD) is identified as tremor-dominant (TD) and postural instability and gait difficulty (PIGD) phenotypes. The relationships between motor phenotypes and cognitive impairment and the underlying mechanisms relating pathological proteins and neurotransmitters in cerebrospinal fluid (CSF) are unknown. We evaluated the motor symptoms and cognitive function by scales, and detected the levels of pathological proteins and neurotransmitters in CSF. TD group and PIGD group had significantly higher levels of total tau, tau phosphorylated at the position of threonine 181(P-tau181t), threonine 231, serine 396, serine 199 and lower β amyloid (Aβ)1-42 level in CSF than those in control group; PIGD group had significantly higher P-tau181t level and lower Aβ1-42 level than those in TD group...
March 23, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28327909/clinical-outcomes-following-surgical-management-of-coexisting-parkinson-disease-and-cervical-spondylotic-myelopathy
#12
Roy Xiao, Jacob A Miller, Daniel Lubelski, Thomas E Mroz, Edward C Benzel, Ajit A Krishnaney, Andre Machado
BACKGROUND: Distinguishing the causes of weakness and gait instability in patients with Parkinson disease (PD) and cervical spondylotic myelopathy (CSM) is a diagnostic and therapeutic challenge due to symptomatic similarities. No study has reported outcomes following decompression in patients with PD and CSM. OBJECTIVE: To report outcomes following cervical decompression for patients with coexisting PD and CSM. METHODS: A retrospective matched cohort study of all patients with PD and CSM undergoing cervical decompression at a tertiary-care center between January 1996 and December 2014 was conducted...
February 2, 2017: Neurosurgery
https://www.readbyqxmd.com/read/28324949/muscle-synergy-analysis-in-transtibial-amputee-during-ramp-ascending-activity
#13
P Mehryar, M S Shourijeh, H F Maqbool, M Torabi, A A Dehghani-Sanij
In developed countries, the highest number of amputees are elderly with transtibial amputation. Walking on inclined surfaces is difficult for amputees due to loss of muscle volume and strength thereby transtibial amputees (TA) rely on the intact limb to maintain stability. The aim of this study was to use the concatenated non-negative matrix factorization (CNMF) technique to calculate muscle synergy components and compare the difference in muscle synergies and their associated activation profiles in the healthy and amputee groups during ramp ascending (RA) activity...
August 2016: Conference Proceedings: Annual International Conference of the IEEE Engineering in Medicine and Biology Society
https://www.readbyqxmd.com/read/28295912/training-with-a-balance-exercise-assist-robot-is-more-effective-than-conventional-training-for-frail-older-adults
#14
Kenichi Ozaki, Izumi Kondo, Satoshi Hirano, Hitoshi Kagaya, Eiichi Saitoh, Aiko Osawa, Yoichi Fujinori
AIM: To examine the efficacy of postural strategy training using a balance exercise assist robot (BEAR) as compared with conventional balance training for frail older adults. METHODS: The present study was designed as a cross-over trial without a washout term. A total of 27 community-dwelling frail or prefrail elderly residents (7 men, 20 women; age range 65-85 years) were selected from a volunteer sample. Two exercises were prepared for interventions: robotic exercise moving the center of gravity by the balance exercise assist robot system; and conventional balance training combining muscle-strengthening exercise, postural strategy training and applied motion exercise...
March 10, 2017: Geriatrics & Gerontology International
https://www.readbyqxmd.com/read/28288334/trunk-biomechanics-during-hemiplegic-gait-after-stroke-a-systematic-review
#15
REVIEW
Tamaya Van Criekinge, Wim Saeys, Ann Hallemans, Silke Velghe, Pieter-Jan Viskens, Luc Vereeck, Willem De Hertogh, Steven Truijen
Stroke commonly results in trunk impairments that are associated with decreased trunk coordination and limited trunk muscle strength. These impairments often result in biomechanical changes during walking. Additionally, the so-called pelvic step might be influenced by these impairments. Therefore, the aim of this review was twofold. First, to gain more insight into trunk biomechanics during walking in stroke patients compared to healthy individuals. Second, to investigate the influence of walking speed on trunk biomechanics...
March 4, 2017: Gait & Posture
https://www.readbyqxmd.com/read/28285142/effects-of-hip-abduction-and-adduction-accuracy-on-post-stroke-gait
#16
Jesse C Dean, Aaron E Embry, Katy H Stimpson, Lindsay A Perry, Steven A Kautz
BACKGROUND: Gait instability often limits post-stroke function, although the mechanisms underlying this instability are not entirely clear. Our recent work has suggested that one possible factor contributing to post-stroke gait instability is a reduced ability to accurately control foot placement. The purpose of the present experiments was to investigate whether post-stroke gait function is related to the ability to accurately abduct and adduct the hip, as required for accurate foot placement...
March 2, 2017: Clinical Biomechanics
https://www.readbyqxmd.com/read/28284567/the-analysis-of-three-dimensional-ground-reaction-forces-during-gait-in-children-with-autism-spectrum-disorders
#17
C Z C Hasan, Rozita Jailani, N Md Tahir, Suryani Ilias
Minimal information is known about the three-dimensional (3D) ground reaction forces (GRF) on the gait patterns of individuals with autism spectrum disorders (ASD). The purpose of this study was to investigate whether the 3D GRF components differ significantly between children with ASD and the peer controls. 15 children with ASD and 25 typically developing (TD) children had participated in the study. Two force plates were used to measure the 3D GRF data during walking. Time-series parameterization techniques were employed to extract 17 discrete features from the 3D GRF waveforms...
March 8, 2017: Research in Developmental Disabilities
https://www.readbyqxmd.com/read/28283747/magnetic-resonance-diffusion-tensor-imaging-for-the-pedunculopontine-nucleus-proof-of-concept-and-histological-correlation
#18
A T D L Alho, C Hamani, E J L Alho, R E da Silva, G A B Santos, R C Neves, L L Carreira, C M M Araújo, G Magalhães, D B Coelho, M C Alegro, M G M Martin, L T Grinberg, C A Pasqualucci, H Heinsen, E T Fonoff, E Amaro
The pedunculopontine nucleus (PPN) has been proposed as target for deep brain stimulation (DBS) in patients with postural instability and gait disorders due to its involvement in muscle tonus adjustments and control of locomotion. However, it is a deep-seated brainstem nucleus without clear imaging or electrophysiological markers. Some studies suggested that diffusion tensor imaging (DTI) may help guiding electrode placement in the PPN by showing the surrounding fiber bundles, but none have provided a direct histological correlation...
March 10, 2017: Brain Structure & Function
https://www.readbyqxmd.com/read/28279773/deep-brain-stimulation-of-pedunculopontine-nucleus-for-postural-instability-and-gait-disorder-after-parkinson-s-disease-a-meta-analysis-of-individual-patient-data
#19
Jia-Wei Wang, Yu-Qing Zhang, Xiao-Hua Zhang, Yun-Peng Wang, Ji-Ping Li, Yong-Jie Li
BACKGROUND: Postural instability and gait disorder(PIGD) in Parkinson's disease (PD) have been a great challenge in the clinical practice since PIGD is closely linked to major morbidity and mortality in PD. Pedunculopontine nucleus (PPN) has been considered as a potential promising target for deep brain stimulation (DBS) in the treatment of PIGD. Thus, this meta-analysis of individual patient data (IPD) was performed to assess the effects of PPN DBS on PIGD in PD patients and explore the factors predicting good outcome...
March 6, 2017: World Neurosurgery
https://www.readbyqxmd.com/read/28275083/unilateral-cerebellothalamic-tract-ablation-in-essential-tremor-by-mri-guided-focused-ultrasound
#20
Sebastian R Schreglmann, Ronald Bauer, Stefan Hägele-Link, Kailash P Bhatia, Parashkev Natchev, Nikolas Wegener, Anita Lebeda, Beat Werner, Ernst Martin, Georg Kägi
OBJECTIVE: To report results of a prospective trial of unilateral transcranial MRI-guided focused ultrasound (MRIgFUS) ablation of the cerebellothalamic tract in essential tremor (ET). METHODS: This was a prospective, uncontrolled, single-center interventional study. Patients with ET fulfilling criteria for interventional therapy received unilateral ablation of the cerebellothalamic tract (CTT) by MRIgFUS. Motor symptoms, manual dexterity, cognition, and quality of life were assessed before intervention and at 48 hours and 1, 3, and 6 months after intervention...
March 8, 2017: Neurology
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