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High level gait disorder

Joanne E Wittwer, Margaret Winbolt, Meg E Morris
Objectives: To understand the benefits and feasibility of using supervised, home-based, music-cued training to improve gait speed and stability in community-dwelling people with Progressive Supranuclear Palsy. Design: Feasibility trial incorporating a single group repeated-measures design. Setting: Human movement laboratory and participants' homes. Interventions: Two training sessions per week, conducted by experienced physiotherapists over 4 weeks. Each home training session consisted of a range of activities in standing or walking, with, and without auditory cues...
2019: Frontiers in Neurology
Lucas E Cromberg, Trinidad M M Saez, María G Otero, Eugenia Tomasella, Matías Alloatti, Ana Damianich, Victorio Pozo Devoto, Juan Ferrario, Diego Gelman, Marcelo Rubinstein, Tomás L Falzone
The process of locomotion is controlled by fine-tuned dopaminergic neurons in the Substantia Nigra pars-compacta (SNpc) that projects their axons to the dorsal striatum regulating cortical innervations of medium spiny neurons. Dysfunction in dopaminergic neurotransmission within the striatum leads to movement impairments, gaiting defects and hypo-locomotion. Due to their high polarity and extreme axonal arborization, neurons depend on molecular motor proteins and microtubule-based transport for their normal function...
January 21, 2019: Journal of Neurochemistry
Marina A Woeste, Sina Stern, Diana N Raju, Elena Grahn, Dominik Dittmann, Katharina Gutbrod, Peter Dörmann, Jan N Hansen, Sophie Schonauer, Carina E Marx, Hussein Hamzeh, Heinz G Körschen, Johannes M F G Aerts, Wolfgang Bōnigk, Heike Endepols, Roger Sandhoff, Matthias Geyer, Thomas K Berger, Frank Bradke, Dagmar Wachten
The non-lysosomal glucosylceramidase (GBA2) catalyzes the hydrolysis of glucosylceramide to glucose and ceramide. Mutations in the human GBA2 gene have been associated with hereditary spastic paraplegia (HSP), autosomal-recessive cerebellar ataxia (ARCA), and the Marinesco-Sjögren-like syndrome. However, the underlying molecular mechanisms are ill-defined. Here, using biochemistry, immunohistochemistry, structural modeling, and mouse genetics, we demonstrate that all but one of the spastic gait locus #46 (SPG46)-connected mutations cause a loss of GBA2 activity...
January 20, 2019: Journal of Biological Chemistry
Amy K Hegarty, Trey V Hulbert, Max J Kurz, Wayne Stuberg, Anne K Silverman
Cerebral palsy (CP) is a neurological disorder that results in life-long mobility impairments. Musculoskeletal models used to investigate mobility deficits for children with CP often lack subject-specific characteristics such as altered muscle strength, despite a high prevalence of muscle weakness in this population. We hypothesized that incorporating subject-specific strength scaling within musculoskeletal models of children with CP would improve accuracy of muscle excitation predictions in walking simulations...
November 29, 2018: Journal of Biomechanics
Hisatsugu Koshimizu, Nao Hirata, Keizo Takao, Keiko Toyama, Takashi Ichinose, Shigeki Furuya, Tsuyoshi Miyakawa
AIM: Tryptophan hydroxylase 2 (Tph2) is a rate-limiting enzyme for the biosynthesis of 5-hydroxytryptamine (5-HT, serotonin). Previous studies have reported that C1473G polymorphism of the murine Tph2 gene leads to decreased 5-HT levels in the brain and abnormal behavioral phenotypes, such as impaired anxiety- and depression-like behaviors. In this study, to confirm the effect of the C1473G polymorphism on mouse phenotypes, we conducted a comprehensive battery of behavioral tests and measured the amounts of brain free amino acids involved in the production of 5-HT...
November 24, 2018: Neuropsychopharmacology Reports
Stefano Tarantini, Andriy Yabluchanskiy, Gábor A Fülöp, Tamas Kiss, Alexandra Perz, Daniel O'Connor, Emily Johnson, Farzaneh Sorond, Zoltan Ungvari, Anna Csiszar
Age-related gait dysfunction and balance disorders are a major cause of falls and injury in the elderly population. Epidemiological studies have shown that disturbances in gait coordination which manifest with age are associated with increased morbidity and mortality, impaired cognitive capacity, as well as reduced level of function and loss of independence. In geroscience mice are the most frequently used model system to test efficiency of anti-aging interventions. Despite the clinical importance of age-related gait abnormalities in older adults, the impact of aging on mouse gait coordination is not well documented in the literature...
November 1, 2018: Journals of Gerontology. Series A, Biological Sciences and Medical Sciences
Shinji Miyagawa, Taiji Mukai, Hiroshi Yaguchi
We report the case of a 43-year-old female patient who presented with symptoms of abnormal behavior, hearing loss, ataxic gait, central hyperventilation which had appeared over the course of one month. Brain MRI showed no abnormal findings in DWI and EEG did not indicate periodic synchronous discharge (PSD). Over the course of the same month, she also presented with central apnea that intermittently showed spontaneous improvement and reappearance. Cerebrospinal fluid 14-3-3 protein tested negative and there was no family history, but an abnormal prion protein was detected in the cerebrospinal fluid by the RT-QUIC assay...
October 27, 2018: Rinshō Shinkeigaku, Clinical Neurology
Eirini Kanata, Ewa Golanska, Anna Villar-Piqué, Aikaterini Karsanidou, Dimitra Dafou, Konstantinos Xanthopoulos, Matthias Schmitz, Isidro Ferrer, André Karch, Beata Sikorska, Pawel P Liberski, Theodoros Sklaviadis, Inga Zerr, Franc Llorens
Sporadic Creutzfeldt-Jakob disease (sCJD) is the most common form of human prion disease. It is invariably fatal and displays a short clinical disease stage. The key event in sCJD is the propagation of a beta-sheet rich conformer of the physiological PrPC protein, known as PrPSc . Neuropathological disease characteristics include gliosis, neuronal loss and spongiform degeneration; disease clinical manifestations refer to mental and visual disabilities, cognitive impairment, gait or limb ataxia, myoclonus and mutism...
October 8, 2018: Journal of Clinical Neuroscience: Official Journal of the Neurosurgical Society of Australasia
Gabriele Röhrig, Ines Gütgemann, Andreas Leischker, Gerald Kolb
Geriatric syndromes are the pathognomonic columns of geriatric medicine. In contrast to many syndromes in younger people, in geriatric patients, the chief complaint does not typically represent the specific pathological condition underlying the change in health status. Geriatric syndromes are usually highly prevalent, multicausal and share a number of common risk factors. In recent years, scientific controversy over anemia in the aged has revealed a high prevalence in geriatric patients, which prompted the "working group on anemia" to publish its first position paper at a European level...
October 4, 2018: Zeitschrift Für Gerontologie und Geriatrie
Reem M A Shafi, Jennifer L Vande Voort, Paul E Croarkin, Magdalena Romanowicz
Parent-child interaction therapy (PCIT) is an evidence-based, behavioral dyadic treatment for caregivers and their children aged 2-7 years old with emotional and behavioral disorders. Here we present a treatment course of a 3-years-old girl with leukoencephalopathy, dysgenesis of the brainstem, and associated global developmental delay who was diagnosed with muscular dystrophy after PCIT completion. At the beginning of PCIT she had the developmental level of an 18 months old with language skills of a 12-18 months old; both her vocabulary and verbal expression were very limited...
2018: Frontiers in Psychiatry
Sandra Ricklin, Andreas Meyer-Heim, Hubertus J A van Hedel
BACKGROUND: Walking in daily life is complex entailing various prerequisites such as leg strength, trunk stability or cognitive and motor dual task (DT) activities. Conventional physiotherapy can be complemented with robot-assisted gait therapy (RAGT) and exergames to enhance the number of step repetitions, feedback, motivation, and additional simultaneously performed tasks besides walking (e.g., dual-task (DT) activities). Although DT gait training leads to improvements in daily ambulation in adult patient groups, no study has evaluated RAGT with a DT exergame in children with neurological gait disorders...
September 17, 2018: Journal of Neuroengineering and Rehabilitation
Julio Cesar Rodríguez-Díaz, Luis Velázquez-Pérez, Roberto Rodríguez Labrada, Raúl Aguilera Rodríguez, Dalina Laffita Pérez, Nalia Canales Ochoa, Jacqueline Medrano Montero, Annelié Estupiñán Rodríguez, Marcos Osorio Borjas, Mariela Góngora Marrero, Lorenzo Reynaldo Cejas, Yanetza González Zaldivar, Dennis Almaguer Gotay
BACKGROUND: Neurorehabilitation has become in a widely used approach in spinocerebellar ataxias, but there are scarce powerful clinical studies supporting this notion. OBJECTIVE: The objective of this study was to assess the efficacy of a 24-week neurorehabilitative treatment in spinocerebellar ataxia type 2 patients. METHODS: A total of 38 spinocerebellar ataxia type 2 patients were enrolled in a rater-blinded, 1:1 randomized, controlled trial using neurorehabilitation for 24 weeks...
September 2018: Movement Disorders: Official Journal of the Movement Disorder Society
Yuan Cheng, Yu-Tao Liu, Zhi-Hua Yang, Jing Yang, Chang-He Shi, Yu-Ming Xu
AIM: Pantothenate-kinase-associated neurodegeneration (PKAN), which is characterised by iron accumulation in the basal ganglia, is a rare autosomal recessive neurodegenerative disorder caused by pantothenate kinase 2 (PANK2) gene mutations. The PANK2 gene is located on chromosome 20p13 and encodes pantothenate kinase. Herein, we identified one patient with PKAN who had mutations in the PANK2 gene. MATERIALS AND METHODS: We performed clinical and radiographic investigations, and diagnosed this disease at the clinical and genetic levels...
August 15, 2018: International Journal of Neuroscience
Germaine Eleanor Torres Herrán, Andrés Damián Ortega Herrera, Braulio Martinez Burbano, Marcos Serrano-Dueñas, María Angélica Ortiz Yepez, Raúl Alberto Barrera Madera, Luis Alfredo Masabanda Campaña, Guillermo David Baño Jiménez, Denny Maritza Santos Saltos, Edgar Patricio Correa Díaz
BACKGROUND: Creutzfeldt-Jakob disease is a rare and fatal neurodegenerative disorder that affects mammals and humans. The prevalence of this disease in the United States is 0.5 to 1 per million inhabitants. So far in Ecuador, we do not know what the prevalence or incidence is, and only one case report has been written. CASE PRESENTATION: We present a case series of Creutzfeldt-Jakob disease in a third-level hospital in Quito. The average age of symptom onset in our patients was 58...
April 27, 2018: BMC Neurology
Pratik Shah, Gregory Yauney, Otkrist Gupta, Vincent Patalano Ii, Mrinal Mohit, Rikin Merchant, S V Subramanian
OBJECTIVES: Technology-enabled non-invasive diagnostic screening (TES) using smartphones and other point-of-care medical devices was evaluated in conjunction with conventional routine health screenings for the primary care screening of patients. DESIGN: Dental conditions, cardiac ECG arrhythmias, tympanic membrane disorders, blood oxygenation levels, optic nerve disorders and neurological fitness were evaluated using FDA-approved advanced smartphone powered technologies...
April 20, 2018: BMJ Open
Farzam Vazifehdan, Vasilios G Karantzoulis, Robert Ebner, Vasilios G Igoumenou
Introduction: Scheie syndrome is an extremely rare systematic disease that represents the most attenuated form of mucopolysaccharidosis Type I disorder. Although associated with a variety of manifestations, Scheie syndrome leading to the development of cervical myelopathyis yet to be reported. Our purpose was to present a unique case of a Scheie syndrome patient, who underwent surgery due to cervical myelopathy, and to discuss the clinical and imaging findings, as well as the challenges and outcomes of surgical treatment...
November 2017: Journal of Orthopaedic Case Reports
Tanja Stojkovic, Elka Stefanova, Ivan Soldatovic, Vladana Markovic, Iva Stankovic, Igor Petrovic, Federica Agosta, Sebastiano Galantucci, Massimo Filippi, Vladimir Kostic
OBJECTIVE: To determine frequency and type of cognitive disorders in cross-sectional analysis of a Parkinson's disease (PD) cohort, and explore its relations to motor symptoms, modifiable vascular risk factors and white matter lesions (WML) volume. METHODS: In a group of 133 PD patients, mild cognitive impairment (PD-MCI) and dementia (PDD) were diagnosed according to Movement Disorders Society Task Force criteria (level 2 for PD-MCI). Detailed motor measurements were applied, including rigidity, axial, bradykinesia, tremor and postural instability gait disorders (PIGD) scores...
June 2018: Journal of Neurology
Sayaka Aoki, Keiji Hashimoto, Hidetoshi Mezawa, Yuhei Hatakenaka, Kahoko Yasumitsu-Lovell, Narufumi Suganuma, Yukihiro Ohya, Philip Wilson, Elisabeth Fernell, Yoko Kamio, Christopher Gillberg
OBJECTIVE: As a new screening tool for neuromotor development in children aged two, we developed the Neuromotor 5 min Exam 2-year-old version (N5E2), which can be easily administered by pediatricians or primary care physicians. In this study, as an initial attempt to examine the utility of the N5E2, the inter-rater reliability on scoring for the individual items in this scale was assessed. METHODS: The participants of the study were 29 children (aged 1-5 years, mean age = 2...
June 2018: Brain & Development
Maggie Lawrence, Francisco T Celestino Junior, Hemilianna Hs Matozinho, Lindsay Govan, Jo Booth, Jane Beecher
BACKGROUND: Stroke is a major health issue and cause of long-term disability and has a major emotional and socioeconomic impact. There is a need to explore options for long-term sustainable interventions that support stroke survivors to engage in meaningful activities to address life challenges after stroke. Rehabilitation focuses on recovery of function and cognition to the maximum level achievable, and may include a wide range of complementary strategies including yoga.Yoga is a mind-body practice that originated in India, and which has become increasingly widespread in the Western world...
December 8, 2017: Cochrane Database of Systematic Reviews
Sara Pietracupa, Antonio Suppa, Neeraj Upadhyay, Costanza Giannì, Giovanni Grillea, Giorgio Leodori, Nicola Modugno, Francesca Di Biasio, Alessandro Zampogna, Claudio Colonnese, Alfredo Berardelli, Patrizia Pantano
Freezing of gait (FOG) is a disabling disorder that often affects Parkinson's disease (PD) patients in advanced stages of the disease. To study structural gray matter (GM) and white matter (WM) changes in PD patients with and without FOG, twenty-one PD patients with FOG (PD-FOG), 16 PD patients without FOG (PD-nFOG) and 19 healthy subjects (HS) underwent a standardized MRI protocol. For the gray matter evaluation, cortical volume (CV), cortical thickness (CTh), and surface area (SA) were analyzed using the FreeSurfer pipeline...
January 2018: Journal of Neurology
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