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Spasticity

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An enigmatic case of cortical anopsia: Antemortem diagnosis of a 14-3-3 negative Heidenhain-variant MM1-sCJD.

Julius Obergassel, Lisa Lohmann, Sven G Meuth, Heinz Wiendl, Oliver Grauer, Christopher Nelke,

Sporadic Creutzfeldt-Jakob disease is the predominant type of human prion disease. While routine diagnostic in phenotypic cases has advanced considerably, the clinical heterogeneity and rarity of subtypes continue to constitute a major clinical and diagnostic challenge. Here, we report a peculiar case of the Heidenhain-variant of MM1 sporadic Creutzfeldt-Jakob disease ... Read more >>

Prion (Prion)
[2020, 14(1):24-28]

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Clinical and genetic aspects of hereditary spastic paraplegia in patients from Turkey.

Nihan H Akçakaya, Burçak Özeş Ak, Michael A Gonzalez, Stefan Züchner, Esra Battaloğlu, Yeşim Parman,

OBJECTIVES:Hereditary spastic paraplegias (HSPs) are a heterogenous group of rare neurodegenerative disorders that present with lower limb spasticity. It is known as complicated HSP if spasticity is accompanied by additional features such as cognitive impairment, cerebellar syndrome, thin corpus callosum, or neuropathy. Most HSP families show autosomal dominant (AD) inheritance. ... Read more >>

Neurol. Neurochir. Pol. (Neurologia i neurochirurgia polska)
[2020, :]

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Autosomal dominant hereditary spastic paraplegia caused by mutation of UBAP1.

Jianda Wang, Yanqi Hou, Lina Qi, Shuang Zhai, Liangwu Zheng, Lin Han, Yufan Guo, Bijun Zhang, Pu Miao, Yuting Lou, Xiaoxiao Xu, Ye Wang, Yanqi Ren, Zhenhua Cao, Jianhua Feng,

Hereditary spastic paraplegias (HSP) are a group of rare neurodegenerative diseases characterized by progressive spastic paraparesis. UBAP1 was recently found to induce a rare type of HSP (SPG80). We identified a family with eight inherited spastic paraplegic patients carrying a novel heterozygous mutation c.279delG (p.S94Vfs*9) of UBAP1. We demonstrated a ... Read more >>

Neurogenetics (Neurogenetics)
[2020, :]

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Autosomal dominant SPG9: intrafamilial variability and onset during pregnancy.

C Marelli, S Badiou, S Genestet, L Larrieu, P Damier, W Camu, M Planes, M Koenig, C Guissart,

INTRODUCTION:The ALDH18A1 gene, encoding delta-1-pyrroline-5-carboxylate synthase (P5CS), is responsible for an autosomal recessive disease with severe developmental delay; more recently, ALDH18A1 was found to be responsible for SPG9, an autosomal dominant (AD) spastic paraplegia. CASE REPORT:We report a three-generation family with AD SPG9, initially suspected because of low citrulline on ... Read more >>

Neurol. Sci. (Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology)
[2020, :]

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Proposal for a Core Outcome Set of Measurement Instruments to Assess Quality of Voice in Adductor Spasmodic Dysphonia Based on a Literature Review.

Juliëtta H C Schuering, Kira S van Hof, Bas J Heijnen, Peter Paul G van Benthem, Elisabeth V Sjögren, Antonius P M Langeveld,

OBJECTIVES:Uniform evaluation of treatment effect on the quality of voice in adductor spasmodic dysphonia (AdSD) is challenging due to the broad variety of available outcome measurement instruments (OMIs). The European Laryngological Society categorized five types of measurement domains for voice quality evaluations: patient-reported outcome measures, perceptual analyses, acoustic analyses, visual ... Read more >>

J Voice (Journal of voice : official journal of the Voice Foundation)
[2020, :]

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Loss of ap4s1 in zebrafish leads to neurodevelopmental defects resembling spastic paraplegia 52.

Angelica D'Amore, Alessandra Tessa, Valentina Naef, Maria Teresa Bassi, Andrea Citterio, Romina Romaniello, Gianluca Fichi, Daniele Galatolo, Serena Mero, Roberta Battini, Giulia Bertocci, Jacopo Baldacci, Federico Sicca, Federica Gemignani, Ivana Ricca, Anna Rubegni, Jennifer Hirst, Maria Marchese, Mustafa Sahin, Darius Ebrahimi-Fakhari, Filippo M Santorelli,

Autosomal recessive spastic paraplegia 52 is caused by biallelic mutations in AP4S1 which encodes a subunit of the adaptor protein complex 4 (AP-4). Using next-generation sequencing, we identified three novel unrelated SPG52 patients from a cohort of patients with cerebral palsy. The discovered variants in AP4S1 lead to reduced AP-4 ... Read more >>

Ann Clin Transl Neurol (Annals of clinical and translational neurology)
[2020, :]

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Clinical characteristics of Taiwanese patients with Hereditary spastic paraplegia type 5.

Cheng-Ta Chou, Bing-Wen Soong, Kon-Ping Lin, Yu-Shuen Tsai, Kang-Yang Jih, Yi-Chu Liao, Yi-Chung Lee,

OBJECTIVES:To investigate the clinical, electrophysiological, neuroimaging characteristics and genetic features of SPG5 in Taiwan. METHODS:Mutational analysis of the coding regions of CYP7B1 was performed by utilizing targeted resequencing analysis of the 187 unrelated Taiwanese HSP patients. The diagnosis of SPG5 was ascertained by the presence of biallelic CYP7B1 mutations. The ... Read more >>

Ann Clin Transl Neurol (Annals of clinical and translational neurology)
[2020, :]

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[Generalized spinal cord atrophy and oligoclonal IgG band in the cerebrospinal fluid due to chronic toluene intoxication: a case report].

Toshiyuki Sakai,

We herein report the case of a 54-year-old man who abused toluene for 25 years and gradually developed gait disturbance. Neurological findings showed mild cognitive impairment, hearing impairment, dysarthria, marked hyperreflexia of the limbs, spastic paraplegia, slight impairment of deep sensation, and urinary disturbance; however, there was no muscular atrophy. ... Read more >>

Rinsho Shinkeigaku (Rinsho shinkeigaku = Clinical neurology)
[2020, :]

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Transmucosal diverticular myotomy for the treatment of oesophageal diverticula associated with spastic motility disorders.

Mayenaaz Sidhu, David J Tate, Michael J Bourke,

Thoracic oesophageal diverticula are often associated with spastic motility disorders. Despite correction of the underlying motility disorder, in a subgroup of patients, symptoms persist, primarily regurgitation. Surgical diverticulectomy is then proposed; however, as the approach is thoracoscopic or via thoracotomy, it is associated with significant morbidity and cost. Descriptions of ... Read more >>

Gut (Gut)
[2020, :]

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Intraoperative testing of passive and active state mechanics of spastic semitendinosus in conditions involving intermuscular mechanical interactions and gait relevant joint positions.

Cemre S Kaya, Fuat Bilgili, N Ekin Akalan, Can A Yucesoy,

In cerebral palsy (CP) patients suffering pathological knee joint motion, spastic muscle's passive state forces have not been quantified intraoperatively. Besides, assessment of spastic muscle's active state forces in conditions involving intermuscular mechanical interactions and gait relevant joint positions is lacking. Therefore, the source of flexor forces limiting joint motion ... Read more >>

J Biomech (Journal of biomechanics)
[2020, :109755]

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Voice analysis in adductor spasmodic dysphonia: Objective diagnosis and response to botulinum toxin.

Antonio Suppa, Francesco Asci, Giovanni Saggio, Luca Marsili, Daniele Casali, Zakarya Zarezadeh, Giovanni Ruoppolo, Alfredo Berardelli, Giovanni Costantini,

INTRODUCTION:Adductor-type spasmodic dysphonia is a task-specific focal dystonia characterized by involuntary laryngeal muscle spasms. Due to the lack of quantitative instrumental tools, voice assessment in patients with adductor-type spasmodic dysphonia is mainly based on qualitative neurologic examination. We evaluated patients with cepstral analysis and specific machine-learning algorithms and compared the ... Read more >>

Parkinsonism Relat. Disord. (Parkinsonism & related disorders)
[2020, 73:23-30]

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The positive and the negative impacts of spasticity in patients with long-term neurological conditions: an observational study.

Sandy Ayoub, Jared G Smith, Isabel Cary, Catherine Dalton, Aimee Pinto, Claire Ward, Alessia Saverino,

Purpose: To describe the positive and negative impacts of spasticity across different neurological disorders using the Patient Reported Impact of Spasticity Measure (PRISM), deduce any associations between severity of spasticity and its impact, and assess for differences across diagnostic subgroups.Materials and methods: PRISM, a spasticity-specific quality of life questionnaire validated ... Read more >>

Disabil Rehabil (Disability and rehabilitation)
[2020, :1-8]

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Novel variants in AP4B1 cause spastic tetraplegia, moderate psychomotor development delay and febrile seizures in a Chinese patient: a case report.

Wen-Cong Ruan, Jia Wang, Yong-Lin Yu, Yue-Ping Che, Li Ding, Chen-Xi Li, Xiao-Dong Wang, Hai-Feng Li,

INTRODUCTION:The AP4B1 gene encodes a subunit of adaptor protein complex-4 (AP4), a component of intracellular transportation of proteins which plays important roles in neurons. Bi-allelic mutations in AP4B1 cause autosomal recessive spastic paraplegia-47(SPG47). CASE PRESENTATION:Here we present a Chinese patient with spastic tetraplegia, moderate psychomotor development delay and febrile seizures ... Read more >>

BMC Med. Genet. (BMC medical genetics)
[2020, 21(1):51]

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Expanding the clinical and genetic heterogeneity of SPAX5.

Claudia Dosi, Daniele Galatolo, Anna Rubegni, Stefano Doccini, Rosa Pasquariello, Claudia Nesti, Federico Sicca, Melissa Barghigiani, Roberta Battini, Alessandra Tessa, Filippo M Santorelli,

Mutations in the ATPase family 3-like gene (AFG3L2) have been linked to autosomal-dominant spinocerebellar ataxia type 28 and autosomal recessive spastic ataxia-neuropathy syndrome. Here, we describe the case of a child carrying bi-allelic mutations in AFG3L2 and presenting with ictal paroxysmal episodes associated with neuroimaging suggestive of basal ganglia involvement. ... Read more >>

Ann Clin Transl Neurol (Annals of clinical and translational neurology)
[2020, :]

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Pattern of Cerebral Palsy Among Sudanese Children Less Than 15 Years of Age.

Karimeldin Salih,

BACKGROUND:Cerebral palsy (CP) is a non-progressive, everlasting neurological disorder of movement, posture, and physical activities, with a prevalence of 2.2-3.3/1,000. CP is a condition that occurs globally, with a similar prevalence in both developed and undeveloped countries. However, the etiology differs according to the socioeconomic status of the countries. The ... Read more >>

Cureus (Cureus)
[2020, 12(3):e7232]

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AP4B1-associated hereditary spastic paraplegia: expansion of phenotypic spectrum related to homozygous p.Thr387fs variant.

Krzysztof Szczałuba, Hanna Mierzewska, Robert Śmigiel, Joanna Kosińska, Agnieszka Koppolu, Anna Biernacka, Piotr Stawiński, Agnieszka Pollak, Małgorzata Rydzanicz, Rafał Płoski,

Biallelic mutations in the AP4B1 gene, encoding adaptor-related protein complex 4 beta-1 subunit, have been recognized as an important cause of a group of conditions leading to adaptor-related protein complex 4 (AP4)-associated hereditary spastic paraplegia (SPG47). We describe a homozygous, known variant c.1160_1161delCA (p.Thr387fs) that was found in the largest ... Read more >>

J. Appl. Genet. (Journal of applied genetics)
[2020, :]

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Investigation of the effect of sensorimotor exercises on proprioceptive perceptions among children with spastic hemiplegic cerebral palsy.

Akram Ahmadi Barati, Reza Rajabi, Shahnaz Shahrbanian, Mostafa Sedighi,

STUDY DESIGN:This is a blinded randomized clinical trial. INTRODUCTION:Sensorimotor exercises may be an effective, noninvasive treatment modality for treating patients with pediatric spastic hemiplegic cerebral palsy (CP). PURPOSE OF THE STUDY:We aim to evaluate the effect of sensorimotor exercises on the proprioceptive capability among children with spastic hemiplegic CP. METHODS:This ... Read more >>

J Hand Ther (Journal of hand therapy : official journal of the American Society of Hand Therapists)
[2020, :]

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RaceRunning training improves stamina and promotes skeletal muscle hypertrophy in young individuals with cerebral palsy.

Emma Hjalmarsson, Rodrigo Fernandez-Gonzalo, Cecilia Lidbeck, Alexandra Palmcrantz, Angel Jia, Ola Kvist, Eva Pontén, Ferdinand von Walden,

BACKGROUND:Individuals with cerebral palsy (CP) are less physically active, spend more time sedentary and have lower cardiorespiratory endurance as compared to typically developed individuals. RaceRunning enables high-intensity exercise in individuals with CP with limited or no walking ability, using a three-wheeled running bike with a saddle and a chest plate ... Read more >>

BMC Musculoskelet Disord (BMC musculoskeletal disorders)
[2020, 21(1):193]

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Coronary Plaque Characteristics and Cut-Off Stenosis for Developing Spasm in Patients with Vasospastic Angina.

Sang-Ho Jo, Ju Ho Sim, Sang Hong Baek,

Coronary plaque distribution, frequency and cut-off value of percent stenosis for developing vasospasm are uncertain in patients with vasospastic angina (VA). We enrolled 2960 patients who received coronary angiography (CAG) and ergonovine provocation test prospectively in 11 university hospitals in Korea. A total of 1836 patients with VA and 867 ... Read more >>

Sci Rep (Scientific reports)
[2020, 10(1):5707]

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Safety of OnabotulinumtoxinA with Concomitant Antithrombotic Therapy in Patients with Muscle Spasticity: A Retrospective Pooled Analysis of Randomized Double-Blind Studies.

Rozalina Dimitrova, Lynn James, Chengcheng Liu, Amelia Orejudos, Irina Yushmanova, Mitchell F Brin,

BACKGROUND:OnabotulinumtoxinA is approved as a treatment across multiple indications. For the treatment of spasticity, onabotulinumtoxinA is injected directly into affected muscles. Intramuscular injections may result in local bleeding and related complications, especially in patients receiving anticoagulant therapy. Despite anticoagulants being commonly used, there is limited information in the medical literature ... Read more >>

CNS Drugs (CNS drugs)
[2020, :]

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The Broad Concept of “Spasticity-Plus Syndrome” in Multiple Sclerosis: A Possible New Concept in the Management of Multiple Sclerosis Symptoms.

Óscar Fernández, Lucienne Costa-Frossard, Marisa Martínez-Ginés, Paloma Montero, José Maria Prieto, Lluis Ramió,

Multiple sclerosis (MS) pathology progressively affects multiple central nervous system (CNS) areas. Due to this fact, MS produces a wide array of symptoms. Symptomatic therapy of one MS symptom can cause or worsen other unwanted symptoms (anticholinergics used for bladder dysfunction produce impairment of cognition, many MS drugs produce erectile ... Read more >>

Front Neurol (Frontiers in neurology)
[2020, 11:]

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The E3/E4 ubiquitin conjugation factor UBE4B interacts with and ubiquitinates the HTLV-1 Tax oncoprotein to promote NF-kB activation

Edward William Harhaj, Suchitra Mohanty, Teng Han, Young Bong Choi, Alfonso Lavorgna, Jiawen Zhang,

Human T-cell leukemia virus type 1 (HTLV-1) is the etiological agent of adult T-cell leukemia/lymphoma (ATLL), and the neurological disease HTLV-1 associated myelopathy/tropical spastic paraparesis (HAM/TSP). The HTLV-1 Tax protein persistently activates the NF-κB pathway to enhance the proliferation and survival of HTLV-1 infected T cells. Lysine 63 (K63)-linked polyubiquitination ... Read more >>

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The effect of home exercise on the posture and mobility of people with HAM/TSP: a randomized clinical trial.

Renata de Sousa Mota, Maíra Carvalho Macêdo, Sandra Corradini, Naiane Araújo Patrício, Abrahão Fontes Baptista, Katia Nunes Sá,

BACKGROUND:Physical therapy has positive results in people with tropical spastic paraparesis (TSP). However, mobility and distance from rehabilitation centers limit the participation in outpatient programs. OBJECTIVE:To evaluate the impact of a home exercise program on the posture and functional mobility of people with TSP. METHODS:A randomized controlled trial comparing three ... Read more >>

Arq Neuropsiquiatr (Arquivos de neuro-psiquiatria)
[2020, :]

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Severe worsening of adult-onset Alexander disease after minor head trauma: Report of two patients and review of the literature.

Chiara Benzoni, Domenico Aquino, Daniela Di Bella, Elisa Sarto, Marco Moscatelli, Davide Pareyson, Franco Taroni, Ettore Salsano,

Alexander disease (ALXDRD) is a rare astrocytic leukodystrophy caused by GFAP mutations. The adult-onset (AO) variant is usually characterized by gradual onset of spastic ataxia and bulbar symptoms with slowly progressive course. We report two AO-ALXDRD cases with rapid worsening after minor head trauma. In one of them, the only ... Read more >>

J Clin Neurosci (Journal of clinical neuroscience : official journal of the Neurosurgical Society of Australasia)
[2020, :]

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Impact of spasticity on functioning in spinal cord injury: an application of graphical modelling.

Cristina Ehrmann, Seyed Mahdi Mahmoudi, Birgit Prodinger, Carlotte Kiekens, Per Ertzgaard,

OBJECTIVE:To identify the impact of moderate-to-severe spasticity on functioning in people living with spinal cord injury. DESIGN:Secondary analysis of cross-sectional survey data using graphical modelling. SUBJECTS:Individuals (n = 1,436) with spinal cord injury aged over 16 years with reported spasticity problems. METHODS:Spasticity and 13 other impairments in body functions were assessed using ... Read more >>

J Rehabil Med (Journal of rehabilitation medicine)
[2020, 52(3):jrm00037]

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