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Gait disorders

Paola Origone, Fabio Gotta, Merit Lamp, Lucia Trevisan, Alessandro Geroldi, Davide Massucco, Matteo Grazzini, Federico Massa, Flavia Ticconi, Matteo Bauckneht, Roberta Marchese, Giovanni Abbruzzese, Emilia Bellone, Paola Mandich
Background: Spinocerebellar ataxia 17 (SCA17) is one of the most heterogeneous forms of autosomal dominant cerebellar ataxias with a large clinical spectrum which can mimic other movement disorders such as Huntington disease (HD), dystonia and parkinsonism. SCA17 is caused by an expansion of CAG/CAA repeat in the Tata binding protein ( TBP ) gene. Normal alleles contain 25 to 40 CAG/CAA repeats, alleles with 50 or greater CAG/CAA repeats are pathological with full penetrance. Alleles with 43 to 49 CAG/CAA repeats were also reported and their penetrance is estimated between 50 and 80%...
2018: Cerebellum & Ataxias
Kavisha Khanuja, Jaclyn Joki, Gloria Bachmann, Sara Cuccurullo
On a global basis, adults 65 years of age and older experience falls more frequently than younger individuals, and these often result in severe injuries as well as increased healthcare costs. Gait and balance disorders in this population are among the most common causes of falls and negatively influence quality of life and survivorship. Although falls are a major public health problem and guidelines/recommendations are available to physicians, many are fully aware of different assessments, tools, and resources available for intervention...
April 2018: Maturitas
L A Kalashnikova, T S Gulevskaya, L A Dobrynina
Cerebral microangiopathy (small vessels disease) is a cause of diffuse changes of brain tissue (encephalopathy) denoted in Russian literature by the term dyscirculatory encephalopathy (DE). The main cause of microangiopathy leading to encephalopathy is arterial hypertension, less frequently - cerebral amyloid angiopathy and cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy. The diagnosis of encephalopathy in patients with microangiopathy is based on the combination of clinical manifestations (mainly, cognitive impairment of varying severity and disorders of gait) with the neuroimaging changes (white matter hyperintensity, multiple lacunar infarcts on MRI)...
2018: Zhurnal Nevrologii i Psikhiatrii Imeni S.S. Korsakova
Robert Gürkov
Background: Bilateral vestibulopathy (BVP) is a debilitating disorder characterized by the hypofunction of both vestibular end organs or nerves. The most frequent identifiable causes of BVP are ototoxic drug effects, infectious and autoimmune disorders. However, the majority of cases remain idiopathic. Very recently, the first discovery of a clinical case of Amiodarone-associated BVP has been reported. Methods: An overview of the literature concerning the relation between amiodarone toxicity and BVP is presented and discussed...
2018: Frontiers in Neurology
Jordi Boix, Daniela von Hieber, Bronwen Connor
Computer-supported gait analysis has proven to be effective for the comprehensive assessment of gait changes in rodent models of neurodegenerative and neurological disorders. However, full characterization of individual gait parameters is required for specific neurological or neurodegenerative disorders such as Parkinson's disease (PD). Gait disturbances in particular present as the most constraining set of symptoms in PD, finally depriving patients from most activities of normal daily living. In this study, we have characterized the gait pattern abnormalities observed in two rat models of PD: the medial forebrain bundle (MFB) 6-OHDA lesion model and the striatal 6-OHDA lesion model...
2018: Frontiers in Behavioral Neuroscience
Masahiko Mukaino, Kei Ohtsuka, Hiroki Tanikawa, Fumihiro Matsuda, Junya Yamada, Norihide Itoh, Eiichi Saitoh
Three-dimensional gait analysis (3DGA) is shown to be a useful clinical tool for the evaluation of gait abnormality due to movement disorders. However, the use of 3DGA in actual clinics remains uncommon. Possible reasons could include the time-consuming measurement process and difficulties in understanding measurement results, which are often presented using a large number of graphs. Here we present a clinician-friendly 3DGA method developed to facilitate the clinical use of 3DGA. This method consists of simplified preparation and measurement processes that can be performed in a short time period in clinical settings and intuitive results presentation to facilitate clinicians' understanding of results...
March 4, 2018: Journal of Visualized Experiments: JoVE
Ashlee Bolger, Andrew Collins, Michelle Michels, David Pruitt
BACKGROUND: Conversion disorder (CD) can lead to impaired functioning. Few studies present demographic and outcome data for pediatric patients. Many have had success with rehabilitation, however further details are not known. OBJECTIVE: To identify characteristics and outcomes of children admitted to a pediatric inpatient rehabilitation program with CD symptoms DESIGN: Retrospective Study SETTING: Inpatient rehabilitation unit within a large children's hospital PATIENTS: All patients with diagnosis of CD or functional gait disorder (FGD) during designated time period...
March 14, 2018: PM & R: the Journal of Injury, Function, and Rehabilitation
Alessandro Micarelli, Andrea Viziano, David Della-Morte, Ivan Augimeri, Marco Alessandrini
OBJECTIVE: Considering the altered multisensory signal compensation during senescence, the aim of the present study was to evaluate the integration rearrangements in unilateral vestibular hypofunction (UVH) during age-related cognitive decline. STUDY DESIGN: Cross-sectional study. SETTING: Longitudinal cohort study unit and of University tertiary referral center. PATIENTS: Older UVH individuals ≥ 55 years with Mild Cognitive Impairment (MCI) or Alzheimer Disease (AD) and matched UVH control group with age-appropriate cognitive function...
March 15, 2018: Otology & Neurotology
Saskia Koene, Niki M Stolwijk, Rob Ramakers, Maaike de Vries, Lonneke de Boer, Mirian C H Janssen, Imelda de Groot, Jan Smeitink
Mitochondrial disorders are multisystem conditions that can potentially affect gait in many ways. The aim of this study was to select the optimal protocol to quantify the spatiotemporal parameters of gait in ambulatory children with mitochondrial disorders based on feasibility, test-retest reliability, and the difference between patients and controls. Gait at self-selected pace was quantified in ambulatory children with a genetically confirmed primary mitochondrial disease using the GAITRite electronic walkway...
March 12, 2018: Journal of Inherited Metabolic Disease
Saud Alsahli, Muhammad Talal Alrifai, Saeed Al Tala, Fuad Al Mutairi, Majid Alfadhel
Background: Cerebellar ataxia, mental retardation, and disequilibrium syndrome (CAMRQ) is a heterogeneous group of genetic disorders that have been grouped by shared clinical features; all of these features are transmitted via an autosomal recessive mechanism. Four variants of this syndrome have been identified so far, and each one differs in terms of both clinical and genotypical features. CAMRQ4 is a rare genetic disorder characterized by mental retardation, ataxia or an inability to walk, dysarthria and, in some patients, quadrupedal gait...
2018: Journal of Central Nervous System Disease
Richard Salazar
INTRODUCTION: Sporadic Creutzfeldt-Jakob disease is a prion disease characterized by rapidly progressive dementia, ataxia and myoclonus. Atypical phenotype masquerading as stroke, movement disorders or autoimmune encephalitis have been described. Here, I report a probable case of sCJD with an atypical presentation associated with anti-Zic4 antibody and review the literature of neuronal antibodies in CJD. CASE REPORT: A 70 year-old gentleman is admitted with a 2-month history of recurrent stroke-like symptoms associated with behavioral disturbances, gait ataxia and rapidly progressive dementia...
March 5, 2018: Clinical Neurology and Neurosurgery
Yanira Sanchez-De la Torre, Rita Wadeea, Victoria Rosas, Karen L Herbst
Background Lipedema is a chronic disorder presenting in women during puberty or other times of hormonal change such as childbirth or menopause, characterized by symmetric enlargement of nodular, painful subcutaneous adipose tissue (fat) in the limbs, sparing the hands, feet and trunk. Healthcare providers underdiagnose or misdiagnose lipedema as obesity or lymphedema. Materials and methods The benefits (friend) and negative aspects (foe) of lipedema were collected from published literature, discussions with women with lipedema, and institutional review board approved evaluation of medical charts of 46 women with lipedema...
March 9, 2018: Hormone Molecular Biology and Clinical Investigation
Mohsen Abedi, Majid M Moghaddam, Davoud Fallah
Since the past decade, rehabilitation robots have become common technologies for recovering gait ability after a stroke. Nevertheless, it is believed that these robots can be further enhanced. Hence, several researches are making progress in optimizing gait rehabilitation robots. However, most of these researches have only assessed the robots and their controllers in improving spatiotemporal and kinetic features of walking. There are not many researchers have focused on the robots' controllers' effects on the central nervous or neuromuscular systems...
March 5, 2018: Mathematical Biosciences
Irene Pulido-Valdeolivas, David Gómez-Andrés, Juan Andrés Martín-Gonzalo, Irene Rodríguez-Andonaegui, Javier López-López, Samuel Ignacio Pascual-Pascual, Estrella Rausell
The Hereditary Spastic Paraplegias (HSP) are a group of heterogeneous disorders with a wide spectrum of underlying neural pathology, and hence HSP patients express a variety of gait abnormalities. Classification of these phenotypes may help in monitoring disease progression and personalizing therapies. This is currently managed by measuring values of some kinematic and spatio-temporal parameters at certain moments during the gait cycle, either in the doctor´s surgery room or after very precise measurements produced by instrumental gait analysis (IGA)...
2018: PloS One
Jing Wang, Kang Xiao, Wei Zhou, Chen Gao, Cao Chen, Qi Shi, Xiao-Ping Dong
Gerstmann-Sträussler-Scheinker disease (GSS) with the P102L mutation in PRNP gene is characterized with progressive cerebellar dysfunction clinically and PrPSc plaques neurologically. Due to the cerebellar ataxia in the early stage, GSS P102L is often misdiagnosed as other neurodegenerative disorders. We presented here a 49-year-old female patient with proven P102L PRNP mutation, and three heterologous mutations in hereditary ataxias associated gene SYNE1, including p.V3643L, p.M3376V and p.T2860A. The patient appeared progressive unsteady gait in early stage and developed the Creutzfeldt-Jacob disease (CJD) - associated clinical manifestations, including progressive dementia, myoclonus, pyramidal and extrapyramidal signs...
March 6, 2018: Prion
Daniel Savitt, Joseph Jankovic
Tardive syndromes are a group of hyperkinetic and hypokinetic movement disorders that occur after some delay following exposure to dopamine receptor blocking agents such as antipsychotic and anti-emetic drugs. The severity of these disorders ranges from mild to disabling or even life-threatening. There is a wide range of recognized tardive phenomenologies that may occur in isolation or in combination with each other. These phenomenologies include stereotypy, dystonia, chorea, akathisia, myoclonus, tremor, tics, gait disorders, parkinsonism, ocular deviations, respiratory dyskinesia, and a variety of sensory symptoms...
February 5, 2018: Journal of the Neurological Sciences
Chuyi Huang, Heling Chu, Yan Zhang, Xiaoping Wang
Freezing of gait (FOG) is a gait disorder featured by recurrent episodes of temporary gait halting and mainly found in advanced Parkinson's disease (PD). FOG has a severe impact on the quality of life of patients with PD. The pathogenesis of FOG is unclear and considered to be related to several brain areas and neural circuits. Its close connection with cognitive disorder has been proposed and some researchers explain the pathogenesis using the cognitive model theory. FOG occurs concurrently with cognitive disorder in some PD patients, who are poorly responsive to medication therapy...
2018: Frontiers in Neuroscience
Imke Galazky, Jörn Kaufmann, Stefan Lorenzl, Georg Ebersbach, Florin Gandor, Tino Zaehle, Sylke Specht, Sabine Stallforth, Uwe Sobieray, Edyta Wirkus, Franziska Casjens, Hans-Jochen Heinze, Andreas Kupsch, Jürgen Voges
BACKGROUND: The pedunculopontine nucleus has been suggested as a potential deep brain stimulation target for axial symptoms such as gait and balance impairment in idiopathic Parkinson's disease as well as atypical Parkinsonian disorders. METHODS: Seven consecutive patients with progressive supranuclear palsy received bilateral pedunculopontine nucleus deep brain stimulation. Inclusion criteria comprised of the clinical diagnosis of progressive supranuclear palsy, a levodopa-resistant gait and balance disorder, age <75 years, and absence of dementia or major psychiatric co-morbidities...
February 19, 2018: Parkinsonism & related Disorders
José Fidel Baizabal-Carvallo, Marlene Alonso-Juarez
Several neurological disorders have been described in patients with autoimmunity associated with GAD antibodies. Among these disorders, nystagmus and oculomotor dysfunction are increasingly recognized, although they have been rarely reported isolated or as the main manifestation of anti-GAD autoimmunity. Moreover, therapeutic approaches for such patients are unclear. Here we present a 44-year-old man with disabling oscillopsia secondary to downbeat nystagmus, abnormal saccades, ocular pursuit and optokinetic nystagmus, as well as mild gait ataxia and cerebellar atrophy associated with high serum GAD antibodies with intrathecal secretion of such antibodies...
April 15, 2018: Journal of Neuroimmunology
Jessica Robinson-Papp, Mary Catherine George, Alexandra Nmashie, Donald Weisz, David M Simpson
Objective : Open-label data suggest that intravenous immunoglobulin (IVIG) might improve lower-extremity strength in human immunodeficiency virus (HIV)-associated myelopathy (HIVM), a rare but debilitating neurologic complication of HIV. We sought to determine the feasibility of testing the efficacy of IVIG for HIVM more rigorously. Design : We conducted a randomized, double-blind, placebo-controlled feasibility trial of IVIG for HIVM, using dynamometry as an outcome measure (Clinical Trial No. NCT01561755)...
February 1, 2018: Innovations in Clinical Neuroscience
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