Search Our Scientific Publications & Authors

Mov Disord 2021 May 7. Epub 2021 May 7.

IRCCS Mondino Foundation, Pavia, Italy.

X-linked parkinsonism encompasses rare heterogeneous disorders mainly inherited as a recessive trait, therefore being more prevalent in males. Recent developments have revealed a complex underlying panorama, including a spectrum of disorders in which parkinsonism is variably associated with additional neurological and non-neurological signs. In particular, a childhood-onset encephalopathy with epilepsy and/or cognitive disability is the most common feature. Read More

Cerebellum 2021 May 6. Epub 2021 May 6.

Department of Neurology, School of Medical Sciences, University of Campinas (UNICAMP), Rua Tessália Vieira de Camargo, 126. Cidade Universitária "Zeferino Vaz", Campinas, SP, 13083-887, Brazil.

Previous studies using whole exome sequencing (WES) have shown that a significant proportion of adult patients with undiagnosed ataxia in European and North American cohorts have a known genetic cause. Little is known about the diagnostic yield of WES in non-Caucasian ataxic populations. Herein, we used WES to investigate a Brazilian cohort of 76 adult patients with idiopathic ataxia previously screened for trinucleotide expansions in known ataxia genes. Read More

Orphanet J Rare Dis 2021 May 5;16(1):201. Epub 2021 May 5.

Centro Andaluz de Biología del Desarrollo (CABD), Consejo Superior de Investigaciones Científicas, Universidad Pablo de Olavide, Carretera de Utrera Km 1, 41013, Sevilla, Spain.

Background: Neurodegeneration with brain iron accumulation (NBIA) is a group of genetic neurological disorders frequently associated with iron accumulation in the basal nuclei of the brain characterized by progressive spasticity, dystonia, muscle rigidity, neuropsychiatric symptoms, and retinal degeneration or optic nerve atrophy. Pantothenate kinase-associated neurodegeneration (PKAN) is the most widespread NBIA disorder. It is caused by mutations in the gene of pantothenate kinase 2 (PANK2) which catalyzes the first reaction of coenzyme A (CoA) biosynthesis. Read More

PLoS One 2021 5;16(5):e0250647. Epub 2021 May 5.

Multiple Sclerosis Center & Department of Neurology, Lady Davis Carmel Medical Center, Haifa, Israel.

Background: The applicability of mobile digital technology to promote clinical care of people with multiple sclerosis (pwMS) is gaining increased interest as part of the implementation of patient-centered approaches. We aimed at assessing adherence to a smartphone-based e-diary, which was designed to collect patient-reported outcomes (PROs). Secondary objectives were to evaluate the construct and predictive validity of e-diary derived PROs and to explore the various factors that were associated with changes in PROs over time. Read More

Medicine (Baltimore) 2021 May;100(18):e25788

Changchun University of Chinese Medicine, Changchun, China.

Background: Post-stroke spasticity (PSS) is a major worldwide health problem, and timely and effective rehabilitation is associated with the risk of diabetes development; there are a variety of non-pharmacological interventions applied to the rehabilitation of PSS in these treatments; however, the relative efficacy and safety of different therapies remain uncertain, and we will conduct a systematic review and network meta-analysis to evaluate different non-pharmacological interventions. The relative efficacy and safety of intervention in PSS rehabilitation, thus providing evidence to support the optimization of the PSS rehabilitation program.

Methods: We searched the following databases electronically, including four English literature databases (i. Read More

Medicine (Baltimore) 2021 May;100(18):e25125

TBI rehabilitation center, National Traffic Injury Rehabilitation Hospital, Gyeonggi-do.

Abstract: Lower limb rehabilitation exoskeleton robots connect with the human body in a wearable way and control the movement of joints in the gait rehabilitation process. Among treadmill-based lower limb rehabilitation exoskeleton robots, Lokomat (Hocoma AG, Volketswil, Switzerland) has 4 actuated joints for bilateral hips and knees whereas Walkbot (P&S Mechanics, Seoul, Korea) has 6 bilateral actuated joints for bilateral hips, knees, and ankles. Lokomat and Walkbot robotic gait training systems have not been directly compared previously. Read More

Dev Med Child Neurol 2021 May 5. Epub 2021 May 5.

PEDEGO Research Unit, University of Oulu, Oulu, Finland.

Aim: To examine the epidemiological, clinical, and genetic characteristics of paediatric patients with genetic white matter disorders (GWMDs) in Northern Finland.

Method: A longitudinal population-based cohort study was conducted in the tertiary catchment area of Oulu University Hospital from 1990 to 2019. Patients were identified retrospectively by International Statistical Classification of Diseases and Related Health Problems codes in hospital records and prospectively by attending physicians. Read More

J Rehabil Med 2021 May 3;53(5):jrm00187. Epub 2021 May 3.

Physical Medicine and Rehabilitation Department, Université Catholique de Louvain, Cliniques Universitaires Saint-Luc, Avenue Hippocrate 10, BE-1200 Brussels, Belgium.

J Pediatr Neurosci 2020 Oct-Dec;15(4):352-357. Epub 2021 Jan 19.

Department of Fetal Medicine, Mediscan Systems, Chennai, Tamil Nadu, India.

The corpus callosum is the principal supratentorial cerebral commissure, which connects the two cerebral hemispheres in the midline. It is divided into rostrum, genu, body, and splenium. Affected patients may develop mental retardation, dysmorphic features, spasticity, ataxia, or epilepsy. Read More

Front Neurol 2021 15;12:629414. Epub 2021 Apr 15.

Department of Neurology With Friedrich Baur Institute, University Hospital of Ludwig-Maximilians-Universität München, Munich, Germany.

Neurodegeneration with Brain Iron Accumulation (NBIA) is a heterogeneous group of progressive neurodegenerative diseases characterized by iron deposition in the globus pallidus and the substantia nigra. As of today, 15 distinct monogenetic disease entities have been identified. The four most common forms are pantothenate kinase-associated neurodegeneration (PKAN), phospholipase A2 group VI (PLA2G6)-associated neurodegeneration (PLAN), beta-propeller protein-associated neurodegeneration (BPAN) and mitochondrial membrane protein-associated neurodegeneration (MPAN). Read More

Neurol Neurochir Pol 2021 ;55(2):120-124

Parkinson-Klinik Ortenau, Wolfach, Germany.

Childs Nerv Syst 2021 Apr 29. Epub 2021 Apr 29.

Division of Pediatric Neurosurgery, Children's Hospital of Eastern Ontario, Rm 3359 CHEO, 401 Smyth Rd, Ottawa, ON, K1H 8L1, Canada.

Purpose: Selective dorsal rhizotomy (SDR) has been used to improve mobility and reduce lower extremity spasticity in patients with a various CNS conditions. Incidentally, literature on SDR has been performed in the pediatric population as such there is a paucity of research on the use in adult patients.

Methods: Studies describing SDR in adults were identified from Medline and Embase databases. Read More

Toxins (Basel) 2021 04 16;13(4). Epub 2021 Apr 16.

London Movement Disorder Centre, London Health Sciences Centre, University of Western Ontario, London, ON N6A5A5, Canada.

The simple definition of tone as the resistance to passive stretch is physiologically a complex interlaced network encompassing neural circuits in the brain, spinal cord, and muscle spindle. Disorders of muscle tone can arise from dysfunction in these pathways and manifest as hypertonia or hypotonia. The loss of supraspinal control mechanisms gives rise to hypertonia, resulting in spasticity or rigidity. Read More

Toxins (Basel) 2021 04 23;13(5). Epub 2021 Apr 23.

Department of Neurosciences, Biomedicine and Movement Sciences, University of Verona, 37100 Verona, Italy.

Botulinum toxin type A (BoNT-A) represents a first-line treatment for spasticity, a common disabling consequence of many neurological diseases. Electrical stimulation of motor nerve endings has been reported to boost the effect of BoNT-A. To date, a wide range of stimulation protocols has been proposed in the literature. Read More

Children (Basel) 2021 Apr 22;8(5). Epub 2021 Apr 22.

Department of Rehabilitation Medicine, College of Medicine, Yeungnam University, Daegu 42415, Korea.

We report the successful management of gait dysfunction in a patient with coordination problems using an insole with a metatarsal inhibition bar (MIB) and a deep heel cup. Furthermore, we investigated the state of the neural tracts via diffusion tensor tractography (DTT). A 23-month-old boy with gait dysfunction presented with toe walking with a wide base and decreased hip flexion. Read More

Toxins (Basel) 2021 04 14;13(4). Epub 2021 Apr 14.

Department of Rehabilitation Medicine, Incheon St. Mary's Hospital, College of Medicine, The Catholic University of Korea, Seoul 06591, Korea.

We aimed to evaluate muscle mass changes after injection of botulinum toxin (BoNT) in children with spastic hemiplegic cerebral palsy (CP). Children aged between 2 and 12 years who were diagnosed with hemiplegic CP with spastic equinus foot were prospectively recruited and administered BoNT in the affected leg. Lean body mass (LBM) of both legs and total limbs was measured by dual-energy X-ray absorptiometry (DXA) preinjection and 4 and 12 weeks after injection. Read More

Int J Environ Res Public Health 2021 Apr 21;18(9). Epub 2021 Apr 21.

Physiotherapy Department, Faculty of Medicine and Health Sciences, Universitat Internacional de Catalunya, 08195 Barcelona, Spain.

Objective: To assess the effect of therapeutic massage for improving sequelae in stroke survivors.

Methods: A systematic review of the nine medical databases from January 1961 to December 2020 was carried out. The bibliography was screened to identify randomized controlled clinical trials (RCTs). Read More

Brain Sci 2021 Apr 8;11(4). Epub 2021 Apr 8.

Neurological Center, Klinik Penzing-Wiener Gesundheitsverbund, 1140 Vienna, Austria.

Gait dysfunction and spasticity are common debilitating consequences of multiple sclerosis (MS). Improvements of these motor impairments by lumbar transcutaneous spinal cord stimulation (tSCS) have been demonstrated in spinal cord injury. Here, we explored for the first time the motor effects of lumbar tSCS applied at 50 Hz for 30 min in 16 individuals with MS and investigated their temporal persistence post-intervention. Read More

Front Neurosci 2021 12;15:643463. Epub 2021 Apr 12.

Department of Neurobiology, University of California, Los Angeles, Los Angeles, CA, United States.

Although children with cerebral palsy seem to have the neural networks necessary to generate most movements, they are markedly dysfunctional, largely attributable to abnormal patterns of muscle activation, often characterized as spasticity, largely reflecting a functionally abnormal spinal-supraspinal connectivity. While it is generally assumed that the etiologies of the disruptive functions associated with cerebral palsy can be attributed primarily to supraspinal networks, we propose that the more normal connectivity that persists between peripheral proprioception-cutaneous input to the spinal networks can be used to guide the reorganization of a more normal spinal-supraspinal connectivity. The level of plasticity necessary to achieve the required reorganization within and among different neural networks can be achieved with a combination of spinal neuromodulation and specific activity-dependent mechanisms. Read More

Neural Regen Res 2021 Dec;16(12):2486-2493

Department of Spinal Cord Injury and Disorders, Hunter Holmes McGuire VA Medical Center; Department of Physical Medicine and Rehabilitation, Virginia Commonwealth University, Richmond, VA, USA.

Skeletal muscle stiffness is altered after spinal cord injury (SCI). Assessing muscle stiffness is essential for rehabilitation and pharmaceutical interventions design after SCI. The study used magnetic resonance elastography to assess the changes in stiffness after chronic SCI compared to matched able-bodied controls and determine its association with muscle size, spasticity, and peak torque in persons with SCI. Read More

Clin Rehabil 2021 Apr 28:2692155211011320. Epub 2021 Apr 28.

Department of Physical Medicine and Rehabilitation, Ankara University Faculty of Medicine, Ankara, Turkey.

Objective: To evaluate the effectiveness of radial extracorporeal shock wave therapy on ankle flexor spasticity in stroke survivors and to reveal changes in the fibroelastic components of muscle.

Design: Randomized controlled trial.

Setting: Inpatient neuro-rehabilitation clinic of a university hospital. Read More

Int J Spine Surg 2021 Feb 18;14(s4):S89-S95. Epub 2021 Jan 18.

Department of Orthopaedics, Sir H. N. Reliance Foundation Hospital, Mumbai, India.

Background: To report 2 different presentations of thoracic myelopathy with ossification of ligamantum flavum (OLF) due to fluorosis.

Methods: Two females presented with thoracic myelopathy secondary to spinal stenosis with OLF due to fluorosis. On examination, the first patient had a grade 4 power in both lower limbs with altered sensation below L1 dermatome. Read More

Neuromodulation 2021 Apr 26. Epub 2021 Apr 26.

Department of Pain Medicine, Jaslok Hospital and Research Centre, Mumbai, Maharashtra, India.

Background: Neuromodulation has been successfully used globally to address severe refractory chronic pain for over five decades. Compared to the wide acceptance that it enjoys in United States and Europe, it is fairly underutilized in Asia, including India.

Objectives: We conducted the first systematic nationwide survey to provide an overview of neuromodulation in the past 20 years to investigate the practice trends for severe refractory chronic pain and barriers for the uptake of neuromodulation therapies for pain in India. Read More

J Pediatr Rehabil Med 2021 Apr 23. Epub 2021 Apr 23.

Department of Orthopedic Medicine, Tufts Medical Center, Boston, MA, USA.

Purpose: Pediatric outpatient procedures can be traumatic experiences for patients. This retrospective study, evaluates intramuscular midazolam as a safe option for anxiolysis during spasticity management injections.

Methods: We performed a retrospective chart review of 72 patients from a Tertiary Pediatric Hospital Outpatient Clinic. Read More

J Stroke Cerebrovasc Dis 2021 Apr 22;30(7):105812. Epub 2021 Apr 22.

Department of Biomedical Engineering, the Chinese University of Hong Kong, Hong Kong. Electronic address:

Objectives: Soft robotic hands are proposed for stroke rehabilitation in terms of their high compliance and low inherent stiffness. We investigated the clinical efficacy of a soft robotic hand that could actively flex and extend the fingers in chronic stroke subjects with different levels of spasticity.

Methods: Sixteen chronic stroke subjects were recruited into this single-group study. Read More

Fortschr Neurol Psychiatr 2021 Apr 23. Epub 2021 Apr 23.

Ludwig-Maximilians-Universität München, Medizinische Fakultät, Department of Neurology; Ludwig-Maximilians-Universität München, Medizinische Fakultät, German Center for Vertigo and Balance Disorders.

Gait and mobility impairments are common and relevant in patients with chronic neurological disorders. It reduces the health-related quality of life and induces falls with morbidity. Symptomatic treatment options are therefore necessary in order to improve the health status of patients with neurological disorders. Read More

J Stroke Cerebrovasc Dis 2021 Apr 19;30(7):105795. Epub 2021 Apr 19.

University of Health Sciences, Gulhane Medical School, Department of Physical Medicine and Rehabilitation, Gaziler Physical Therapy and Rehabilitation Training and Research Hospital, Ankara, Turkey.

Objective: This randomized controlled study examined the effect of continuous theta burst stimulation (cTBS) and low frequency repetitive transcranial magnetic stimulation (rTMS) on upper extremity spasticity and functional recovery in chronic ischemic stroke patients.

Materials And Methods: Twenty chronic ischemic stroke patients were randomized into three groups as real rTMS group (n = 7), real cTBS group (n = 7) and sham cTBS group (n = 6), in which real rTMS with physical therapy (PT), real cTBS with PT and sham cTBS with PT were applied in 10 sessions, respectively. The evaluation parameters were assessed at pre-treatment, post-treatment and follow up at 4 weeks. Read More

PLoS One 2021 22;16(4):e0250100. Epub 2021 Apr 22.

Department of Physiotherapy, Universidade Federal de Ciências da Saúde de Porto Alegre (UFCSPA), Porto Alegre, Brazil.

Background: Walking speed is often used in the clinic to assess the level of gait impairment following stroke. Nonetheless, post-stroke individuals may employ the same walking speed but at a distinct movement quality. The main objective of this study was to explore a novel movement quality metric, the estimation of gait smoothness by the spectral arc length (SPARC), in individuals with a chronic stroke displaying mild/moderate or severe motor impairment while walking in an outdoor environment. Read More

Mol Cell Biochem 2021 Apr 22. Epub 2021 Apr 22.

Hengyang Medical School, University of South China, Hengyang City, 421001, Hunan Province, China.

Multiple sclerosis (MS) is an autoimmune chronic inflammatory disease of the central nervous system with a wide range of symptoms, like executive function defect, cognitive dysfunction, blurred vision, decreased sensation, spasticity, fatigue, and other symptoms. This neurological disease is characterized by the destruction of the blood-brain barrier, loss of myelin, and damage to neurons. It is the result of immune cells crossing the blood-brain barrier into the central nervous system and attacking self-antigens. Read More

Neurol Sci 2021 Apr 22. Epub 2021 Apr 22.

Department of Physiotherapy and Rehabilitation Sciences, Faculty of Medicine and Health Sciences, University of Antwerp, D.R.312, Wilrijk, 2610, Belgium.

Background: High repetitions of task practice is required for the recovery of the motor function during constraint-induced movement therapy (CIMT). This can be achieved into ways: when the task practice is measured in hours of practice or when the number of repetitions is counted. However, it has been argued that using hours of task practice as a measure of practice does not provide a clear instruction on the dose of practice. Read More