Gait disorders

Genetic cerebellar ataxias are still a diagnostic challenge, and yet not all of them have been identified. Very recently, in early 2023, a new cause of late-onset cerebellar ataxia (LOCA) was identified, spinocerebellar ataxia 27B (SCA27B). This is an autosomal dominant ataxia due to a GAA expansion in intron 1 of the FGF14 gene. Thanks to the many studies carried out since its discovery, it is now possible to define the clinical phenotype, its particularities, and the progression of SCA27B. It has also been established that it is one of the most frequent causes of LOCA...

Hereditary spastic paraplegias (HSPs) are a heterogeneous group of mono-genetic inherited neurological disorders, whose primary manifestation is the disruption of the pyramidal system, observed as a progressive impaired gait and leg spasticity in patients. Despite the large list of genes linked to this group, which exceeds 80 loci, the number of cellular functions which the gene products engage is relatively limited, among which endoplasmic reticulum (ER) morphogenesis appears central. Mutations in genes encoding ER-shaping proteins are the most common cause of HSP, highlighting the importance of correct ER organisation for long motor neuron survival...

BACKGROUND: Increased age is a strong and unfavorable prognostic factor for patients with glioblastoma (GBM). However, the relationships between stratified patient age, comorbidities, and medications have yet to be explored in GBM patient survival analyses. OBJECTIVE: To evaluate co-morbid conditions, tumor-related symptoms, medication prescriptions, and subject age for patients with GBM and to establish potential targets for prospective studies. METHODS: Electronic health records for 565 patients with IDHwt GBM were evaluated at a single center between January 1, 2000 and August 9, 2021 were retrospectively assessed...

INTRODUCTION: When determining the level of gait independence in patients with Alzheimer's disease (AD), detailed functional assessment is difficult in some patients. Previous literature has suggested simple standing balance tests for patients with AD due to their ease of implementation in clinical practice and relevance to gait. However, their usefulness for discriminating the level of gait independence remains unclear. This study aimed to investigate the discrimination accuracy of a simple standing balance test in the level of gait independence among hospitalized patients with AD...

PURPOSE: The purposes of meta-analysis are to evaluate evidence about the effects of Rehabilitation Exercise Program on the balance of post-stroke patients, evaluated by the Berg Balance Scale (BBS). METHODS: The search was conducted 'stroke,' 'rehabilitation,' 'dynamic balance,' 'Berg Balance Scale,' 'exercise' and 'randomized controlled trial'using MEDLINE (accessed by PubMed), Web of Science (WoS), ProQuest, and Google Scholar for journal studies published from January 2018 to October 2022...

This study aims to identify effective ways to design virtual rehabilitation to obtain physical improvement (e.g. balance and gait) and support engagement (i.e. motivation) for people with osteoporosis or other musculoskeletal disorders. Osteoporosis is a systemic skeletal disorder and is among the most prevalent diseases globally, affecting 0.5 billion adults. Despite the fact that the number of people with osteoporosis is similar to, or greater than those diagnosed with cardiovascular disease and dementia, osteoporosis does not receive the same recognition...

OBJECTIVE: Aim: To study the results of the quality of life, the state of vestibular disorders and the nature of walking of amateur athletes with the consequences of a combat craniocerebral injury after rehabilitation treatment according to a correctional program. PATIENTS AND METHODS: Materials and Methods: The study was conducted on the basis of the Ukrainian Scientific Research Institute of Prosthetics in Kharkov. Under observation were 38 men aged 25-42 years with long-term consequences of a closed craniocerebral injury in the late long-term period...

Segawa syndrome usually manifests as dystonia, disturbance of gait with fatigue, and may be confused with spasticity. Also known as dopamine-responsive dystonia (DRD), it should be considered in any child who presents with paroxysmal or progressive hypertonia of unknown etiology, which responds dramatically to levodopa. It is a clinical diagnosis, but the level of pterins in cerebrospinal fluid and guanosine triphosphate cyclohydrolase-1 (GTCH 1) gene mutation testing done by molecular genetic testing are confirmatory...

BACKGROUND: Patients seeking medical care for back pain often have coexisting painful joints and the effects of different combinations and number of coexisting pain sites (hip, knee, foot/ankle) to back pain on physical function domains and quality of life rating are not yet established. The purpose of this study was to determine the differences in functional outcomes and QOL among individuals with back pain who have concurrent additional pain sites or no pain sites. METHODS: Data from the Osteoarthritis Initiative (OAI) cohort were used for this cross-sectional analysis...

BACKGROUND: Single limb support phase of the gait-cycle in patients who are treated for a pertrochanteric fracture is characterized by transversal loads acting on the lag screw, tending to block its dynamization. If the simultaneous axial force overcomes transversal loads of the sliding screw, the dynamization can still occur. METHODS: Biomechanical investigation was performed for three types of dynamic implants: Gamma Nail, and two types of Selfdynamizable Internal Fixators (SIF) - SIF-7 (containing two 7 mm non-cannulated sliding screws), and SIF-10 (containing one 10 mm cannulated sliding screw)...

The deep tendon reflex (DTR) is a more objective indicator than sensory and muscle assessments for lumbar spine disorders. Further, unlike sensory and muscle assessments that require patient cooperation, the DTR can be assessed even in patients with impaired consciousness or cognition. Therefore, DTR assessment with a hammer is an essential neurological test for lumbar spinal diseases. However, despite the usefulness of DTR assessment, few reports have described the significance of increased, diminished, or absent deep lower extremity reflexes in lumbar spine diseases...

Glycogen Storage Disease (GSD) IXd, caused by PHKA1 gene mutations, is an X-linked rare disorder that can be asymptomatic or associated with exercise intolerance. GSD type II is an autosomal recessive disorder caused by mutations in the GAA gene that lead to severe cardiac and skeletal muscle myopathy. We report the first case of co-occurrence of type IXd and type II GSDs in a 53-year-old man with an atypical glycogen storage disease presentation consisting in myalgia in the lower limbs at both rest and after exercise and increased levels of transaminases from the age of 16...

INTRODUCTION: musculoskeletal (MSK) disorders account for approximately 20% of all years lived with disability worldwide however studies of MSK disorders in Africa are scarce. This pilot study aimed to estimate the community-based prevalence of MSK disorders, identify predictors, and assess the associated disability in a Tanzanian population. METHODS: a cross-sectional study was conducted in one village in the Kilimanjaro region from March to June 2019. The Gait, Arms, Legs, Spine (GALS) or paediatric GALS (pGALS) examinations were used during household and school visits...

BACKGROUND: Hyperargininemia is a rare inherited metabolic disorder of the urea cycle with an autosomal recessive transmission. It occurs due to a deficiency of the enzyme arginase I and causes progressive neurological damage. Very few cases are diagnosed in adulthood, with the majority being diagnosed before the age of 4. Currently, this condition is diagnosed by a mass spectrometry technique in neonatal screening, which has been implemented in Portugal since 2007; births before that were not screened for this entity...

BACKGROUND: Previous studies have shown that thalamic and hippocampal neurodegeneration is associated with clinical decline in Multiple Sclerosis (MS). However, contributions of the specific thalamic nuclei and hippocampal subfields require further examination. OBJECTIVE: Using 7 Tesla (7T) magnetic resonance imaging (MRI), we investigated the cross-sectional associations between functionally grouped thalamic nuclei and hippocampal subfields volumes and T1 relaxation times (T1-RT) and subsequent clinical outcomes in MS...

BACKGROUND: Gait analysis using inertial measurement devices can identify multifaceted gait disorders after a stroke. Although the usefulness of gait assessment using inertial measurement devices has been reported, its accuracy in discriminating gait independence in patients hospitalized for subacute stroke has not yet been validated. RESEARCH QUESTION: Can trunk acceleration indices discriminate between dependent and independent walking in patients with subacute stroke? METHODS: Thirty-five patients with subacute stroke (mean ± standard deviation, 75...

OBJECTIVE: To examine whether immersive virtual reality (VR) can improve balance, gait, mobility and fear of falling in older people. DATA SOURCES: MEDLINE, EMBASE, CINAHL, PsycINFO, ProQuest Central (Engineering and Computer Science) and reference lists of included articles. STUDY SELECTION: Randomised controlled trials that administered immersive VR training and assessed balance, gait and mobility outcomes in older adults without neurological disorders (mean age ≥ 65)...

BACKGROUND: Based on a limited number of reported families, biallelic CA8 variants have currently been associated with a recessive neurological disorder named, cerebellar ataxia, mental retardation, and dysequilibrium syndrome 3 (CAMRQ-3). OBJECTIVES: We aim to comprehensively investigate CA8-related disorders (CA8-RD) by reviewing existing literature and exploring neurological, neuroradiological, and molecular observations in a cohort of newly identified patients...

OBJECTIVE: To assess amantadine use and associated factors in the patients with Parkinson's disease (PD). BACKGROUND: Immediate-release amantadine is approved for the treatment of PD and is largely used in clinical practice to treat "levodopa-induced dyskinesia (LIDs). Its use varies according to countries and PD stages. The prospective NS-Park cohort collects features of PD patients followed by 26 French PD Expert Centres. METHODS: Variables used for the analyses included demographics, motor and non-motor PD symptoms and motor complications [motor fluctuations (MFs), LIDs)], antiparkinsonian pharmacological classes and levodopa equivalent daily dose (LEDD)...

INTRODUCTION AND IMPORTANCE: Sydenham's chorea (SC), a major neurological manifestation of acute rheumatic fever (ARF), is commonly seen in young children and adolescents. It is characterized by rapid, unpredictable, involuntary, and nonpatterned contractions affecting mostly distal limbs. It can also be associated with clinical or subclinical carditis. SC has been reported as a major manifestation in only 3.87% cases of acute rheumatic fever in Nepal. CASE PRESENTATION: The authors report a case of a 12-year-old boy with abnormal movement of his right hand and unsteady gait for 12 days...