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https://read.qxmd.com/read/38391695/rett-syndrome-and-the-role-of-mecp2-signaling-to-clinical-trials
#1
REVIEW
Adele Gaspar Lopes, Sampath Kumar Loganathan, Jayalakshmi Caliaperumal
Rett syndrome (RTT) is a neurological disorder that mostly affects females, with a frequency of 1 in 10,000 to 20,000 live birth cases. Symptoms include stereotyped hand movements; impaired learning, language, and communication skills; sudden loss of speech; reduced lifespan; retarded growth; disturbance of sleep and breathing; seizures; autism; and gait apraxia. Pneumonia is the most common cause of death for patients with Rett syndrome, with a survival rate of 77.8% at 25 years of age. Survival into the fifth decade is typical in Rett syndrome, and the leading cause of death is cardiorespiratory compromise...
January 24, 2024: Brain Sciences
https://read.qxmd.com/read/38292156/gait-and-cognitive-disorders-revealing-massive-neurocysticercosis-a-case-report
#2
Parany Haja Rabearisoa, Nomena Finiavana Rasaholiarison, Julien Razafimahefa, Alain Djacoba Tehindrazanarivelo
Neurocysticercosis is frequent in Madagascar. Its clinical presentations depends on the topography of the lesions. We report a case with gait and cognitive disorders. A 49-year-old man, right-handed, with progressive gait disorders (small steps with magnetization). On examination, he had gait disorders, associated with frontal syndrome with Frontal Assessment Battery (FAB) scale of 10/18, a Mini-Mental Status Examination (MMSE) scale of 24/30, a constructive apraxia and a clock test disturbance. The brain CT scan showed massive lesions of fronto-parietal and temporal neurocysticercosis, meningeal neurocysticercosis with racemose forms...
January 2024: Oxford Medical Case Reports
https://read.qxmd.com/read/38135498/neurological-gait-assessment
#3
REVIEW
Sofia Mermelstein, Pedro Barbosa, Diego Kaski
Gait disorders are a common feature of neurological disease. The gait examination is an essential part of the neurological clinical assessment, providing valuable clues to a myriad of causes. Understanding how to examine gait is not only essential for neurological diagnosis but also for treatment and prognosis. Here, we review aspects of the clinical history and examination of neurological gait to help guide gait disorder assessment. We focus particularly on how to differentiate between common gait abnormalities and highlight the characteristic features of the more prevalent neurological gait patterns such as ataxia, waddling, steppage, spastic gait, Parkinson's disease and functional gait disorders...
January 23, 2024: Practical Neurology
https://read.qxmd.com/read/38021531/creutzfeldt-jakob-disease-a-rare-case-of-dementia
#4
Cláudio Gouveia, Luís M Morais, Susana Guimarães, Cristiana Camacho, Susana Jesus
Prion diseases are rare neurodegenerative diseases that have a rapid evolution. Creutzfeldt-Jakob disease (CJD) is the most common and its sporadic form the most frequent. Definitive diagnosis is only obtained through autopsy, and there are currently no available treatments. Here, we present a case of an 84-year-old woman presenting with resting tremor, abnormal gait, frequent falls, apraxia, visual hallucinations, and delirium. There were no signs of relevant metabolic, infectious, or nutritional alterations, and brain computed tomography (CT) scan and magnetic resonance imaging (MRI) had no significant findings...
October 2023: Curēus
https://read.qxmd.com/read/37958671/potential-modifying-effect-of-the-apoe%C3%AE%C2%B54-allele-on-age-of-onset-and-clinical-manifestations-in-patients-with-early-onset-alzheimer-s-disease-with-and-without-a-pathogenic-variant-in-psen1-in-a-sample-of-the-mexican-population
#5
JOURNAL ARTICLE
César A Valdez-Gaxiola, Eric Jonathan Maciel-Cruz, Rubiceli Hernández-Peña, Sofía Dumois-Petersen, Frida Rosales-Leycegui, Martha Patricia Gallegos-Arreola, José Miguel Moreno-Ortiz, Luis E Figuera
In Alzheimer's disease (AD), the age of onset (AoO) exhibits considerable variability, spanning from 40 to 90 years. Specifically, individuals diagnosed with AD and exhibiting symptoms prior to the age of 65 are typically classified as early onset (EOAD) cases. Notably, the apolipoprotein E (APOE) ε4 allele represents the most extensively studied genetic risk factor associated with AD. We clinically characterized and genotyped the APOEε4 allele from 101 individuals with a diagnosis of EOAD, and 69 of them were affected carriers of the autosomal dominant fully penetrant PSEN1 variant c...
October 28, 2023: International Journal of Molecular Sciences
https://read.qxmd.com/read/37846576/the-effectiveness-of-transcranial-magnetic-stimulation-in-treating-apraxia
#6
JOURNAL ARTICLE
Asma Ruwaili, Rida Fatima, Amal Hussain, Mohammad Uzair, Turki Abualait, Kaleem Imdad, Shahid Bashir
Apraxia can be detected when engaging in mental motor envisioning exercises. The nonverbal skills of manufacturing, representation, strategizing, arithmetic, visual sensitivity, and motor skills are all related to apraxia. Limb apraxia also negatively affects communication gestures and linguistic skills. The impairment of brain regions related to motion patterns is the primary cause of apraxia. People with apraxia may struggle to complete a variety of tasks because they are unable to focus on various movements...
October 13, 2023: CNS & Neurological Disorders Drug Targets
https://read.qxmd.com/read/37839080/c9orf72-repeat-expansion-initially-presenting-as-late-onset-bipolar-disorder-with-psychosis
#7
JOURNAL ARTICLE
Leslie S Gaynor, Golnaz Yadollahikhales, Elena Tsoy, Matthew Hall, Adam L Boxer, Bruce L Miller, Lea T Grinberg
INTRODUCTION: C9orf72 expansion is the most common genetic abnormality in behavioral variant frontotemporal dementia (bvFTD) and amyotrophic lateral sclerosis. Although psychiatric prodromes are common in C9orf72 expansion carriers, there are only scattered reported cases of primary psychiatric disorders, such as bipolar disorder, diagnosed at disease onset. Moreover, C9orf72 carrier status is rarely identified in bipolar disorder genetic studies. CASE REPORT: A 51-year-old, right-handed woman with 16 years of education presented for evaluation of long-standing cognitive and behavioral change...
August 25, 2023: Neurologist
https://read.qxmd.com/read/37807225/a-99-older-adult-male-with-idiopathic-normal-pressure-hydrocephalus-inph-neuropsychological-case-study
#8
JOURNAL ARTICLE
Doyen Kim, Kelly A Kearns
OBJECTIVE: Idiopathic normal pressure hydrocephalous (iNPH) is a potentially reversible syndrome characterized by ventriculomegaly. Parkinsonism is an often-overlooked clinical feature of iNPH. Mostile et al. (2022) argued that the diagnostic iNPH "triad" should be reconsidered as a "tetrad" including parkinsonism. This case will discuss iNPH presenting with parkinsonism. Patient is an 81-year-old male with a history of iNPH with Hakim's triad. His medical history includes hyperlipidemia, hypertension, deep vein thrombosis, benign prostatic hyperplasia, total knee replacement, and chronic depression...
October 8, 2023: Archives of Clinical Neuropsychology: the Official Journal of the National Academy of Neuropsychologists
https://read.qxmd.com/read/37781696/epirubicin-and-gait-apraxia-a-real-world-data-analysis-of-the-fda-adverse-event-reporting-system-database
#9
JOURNAL ARTICLE
Wei Wang, Xin Guan, Shuang Wang, Lipeng Shi, Yanfei Zhu, Pengbo Hua, Qiang Guo, Jingqi Wang
Introduction: Epirubicin is widely used in many malignancies with good efficacy and tolerability. However, investigations about adverse events (AEs) using real-world information are still insufficient. Methods: We extracted Epirubicin-related reports submitted between the first quarter of 2014 and first quarter of 2023 from FAERS database. Four algorithms were utilized to evaluate whether there was a significant correlation between Epirubicin and AEs. Results: After de-duplicating, a total of 3919 cases were extracted...
2023: Frontiers in Pharmacology
https://read.qxmd.com/read/37489858/higher-level-gait-disorder-as-a-presenting-manifestation-of-progressive-supranuclear-palsy-a-video-case-report
#10
R Ghosh, M León-Ruiz, S Dubey, A Chakraborty, J Benito-León
INTRODUCTION: Frontal gait disorder/gait apraxia is a higher-order motor deficit with various causes, characterized by difficulties with gait initiation, such as freezing or ignition failure. We aimed to report a patient who presented with progressive higher-level gait disorder and fall episodes as the initial manifestations of progressive supranuclear palsy (PSP). Patient data were obtained from medical records from the Department of General Medicine, Burdwan Medical College and Hospital (Burdwan, West Bengal, India)...
August 16, 2023: Revista de Neurologia
https://read.qxmd.com/read/37468299/neurocysticercosis-diagnosis-via-metagenomic-next-generation-sequencing
#11
JOURNAL ARTICLE
Denison Alves Pedrosa, Gustavo Bruniera Peres Fernandes, Luís Filipe de Souza Godoy, André C Felício, João Rebello Pinho, André Mário Doi, René de Araújo Gleizer
A 68-year-old Brazilian woman had 3 months of progressive fatigue, difficulty walking and 18 kg weight loss. On examination, there was gait apraxia and executive dysfunction. MR scan of brain showed communicating hydrocephalus and a cerebrospinal fluid showed 105 white cells/µL (≤5), predominantly lymphocytes, protein of 1.35 g/L (0.15-0.45) and the glucose content of 0.06 mmol/L (3.3-4.4). We suspected an infective cause and used of metagenomic next-generation sequencing to diagnose neurocysticercosis...
November 23, 2023: Practical Neurology
https://read.qxmd.com/read/37464286/misdiagnosis-of-rarest-subtype-of-sporadic-creutzfeldt-jakob-disease-a-case-report
#12
JOURNAL ARTICLE
Aemal Aziz Jabarkhil, Aziz Rahman Rasib, Abdullah Asady, Farhad Farzam
BACKGROUND: Creutzfeldt-Jakob disease (CJD), is a deadly degenerative condition of the central nervous system marked by rapidly progressive dementia. Magnetic resonance imaging (MRI) abnormalities in the cerebral cortex, basal ganglia, thalamus, and cerebellum could indicate severe acute diseases caused by a variety of factors. Although their MRI patterns may resemble those of CJD, clinical history, additional MRI findings, and laboratory testing are all necessary to provide a reliable difference...
July 18, 2023: BMC Neurology
https://read.qxmd.com/read/37429465/botulinum-toxin-in-the-management-of-parkinsonian-disorders
#13
REVIEW
Talyta Grippe, Robert Chen
Many studies have shown that botulinum toxin (BoNT) can be an option to treat motor and non-motor symptoms in Parkinson's disease (PD) and parkinsonian syndromes. The advantages of BoNT compared to oral medications include localized action and low incidence of systemic side effects, which is important in treating neurodegenerative disease. Motor symptoms that can be treated with BoNT include blepharospasm, apraxia of eyelid opening, tremor, cervical dystonia and limb dystonia. Other indications with less evidence include camptocormia, freezing of gait and dyskinesia...
August 15, 2023: Toxicon: Official Journal of the International Society on Toxinology
https://read.qxmd.com/read/37189704/gait-apraxia-and-hakim-s-disease-a-historical-review
#14
REVIEW
David Milletti, Filippo Tamburini Randi, Giuseppe Lanzino, Fernando Hakim, Giorgio Palandri
In 1965, Prof. Salomón Hakim described, for the first time, a condition characterized by normal pressure hydrocephalus and gait alterations. During the following decades, definitions such as "Frontal Gait", "Bruns' Ataxia" and "Gait Apraxia" have been frequently used in pertinent literature in the attempt to best define this peculiar motor disturbance. More recently, gait analysis has further shed light on the typical spatiotemporal gait alterations that characterize this neurological condition, but a clear and shared definition of this motor condition is still lacking...
April 3, 2023: Biomedicines
https://read.qxmd.com/read/37039061/apraxia-and-dementia-severity-in-alzheimer-s-disease-a-systematic-review
#15
REVIEW
Emmi Vakkila, Mervi Jehkonen
INTRODUCTION: To investigate the role and influence of apraxia regarding dementia severity in Alzheimer's disease (AD). In addition, to examine whether apraxia or its association to dementia severity show distinct characteristics between typical and atypical variants of AD, that commonly include frontal, logopenic, posterior, and Down's syndrome variant. METHOD: The search conducted on 4 December 2020 in the Cinahl, Ovid Medline, PsycArticles, PsycInfo, Scopus and Web of Science databases yielded 251 non-duplicate records published since 2000...
February 2023: Journal of Clinical and Experimental Neuropsychology
https://read.qxmd.com/read/37030986/from-hysteria-to-gait-dementia-history-of-the-concept-of-astasia-abasia
#16
REVIEW
O Walusinski
Paul Blocq (1860-1896) and his teacher Jean-Martin Charcot (1825-1893) introduced the expression "astasia-abasia" into medical terminology in 1888 to designate a pathology they believed to be caused by hysteria. This condition makes it impossible to remain erect and to walk, whereas the ability to move the legs while lying down remains normal. At the turn of the 20th century, and now almost exclusively, this motor disturbance is recognised as a syndrome with multiple possible organic causes, and now described as "higher-level gait disorder"...
April 6, 2023: Revue Neurologique
https://read.qxmd.com/read/36348824/cognitive-impairment-in-strategic-infarct-dementia-a-report-of-three-cases
#17
Vivek Sanker, Robert Mathew, Maanasi Pranala, Arjun Sudheesh, Vyshnav R Menon
Strokes involving specific areas regulating cognition and behavioral functions constitute strategic infarct vascular dementia. We present three patients with acute behavioral changes and cognitive impairment following a strategic infarct. Case 1 is of a 59-year-old male, a known patient of diabetes mellitus under treatment, who presented with acute onset of memory deficit along with difficulty in recognizing faces, and left hemispatial neglect. Case 2 is of a 62-year-old male, a smoker, who presented with acute onset of behavioral abnormalities, gait apraxia, and decreased word output...
October 2022: Curēus
https://read.qxmd.com/read/36162853/idiopathic-normal-pressure-hydrocephalus-historical-context-and-a-contemporary-guide
#18
REVIEW
Christopher Carswell
Idiopathic normal pressure hydrocephalus (NPH) was described in 1965 as a syndrome in which hydrocephalus develops but with a normal cerebrospinal fluid (CSF) pressure, causing shunt-responsive gait apraxia, cognitive impairment and urinary incontinence. Not all patients respond to shunting despite having the clinical syndrome with appropriate radiological features. This has led to considerable debate over subsequent decades regarding idiopathic NPH. It is now understood that asymptomatic communicating hydrocephalus can develop in many healthy older people, and that over time this can develop into a symptomatic state that sometimes responds to CSF shunting, but to a variable extent...
February 2023: Practical Neurology
https://read.qxmd.com/read/36119692/case-report-a-novel-aptx-p-ser168glufster19-mutation-in-a-chinese-family-with-ataxia-with-oculomotor-apraxia-type-1
#19
Xuan Wu, Nan Dong, Zhensheng Liu, Tieyu Tang, Meirong Liu
Ataxia with oculomotor apraxia type 1 (AOA1) is a rare genetic disorder and is inherited in an autosomal recessive manner. It is mainly characterized by childhood-onset progressive cerebellar ataxia, with dysarthria and gait disturbance being the two most common and typical manifestations. Axonal sensorimotor peripheral neuropathy, dystonia, chorea, and cognitive impairment are common associated symptoms, as are hypoalbuminemia and hypercholesterolemia. Oculomotor apraxia (OMA)has been reported to be a feature often, although not exclusively, associated with AOA1...
2022: Frontiers in Neurology
https://read.qxmd.com/read/35975211/gait-apraxia-with-exaggerated-upper-limb-movements-as-presentation-of-aars2-related-leukoencephalopathy
#20
Arka Prava Chakraborty, Adreesh Mukherjee, Aishee Bhattacharyya, Dwaipayan Bhattacharyya, Biman Kanti Ray, Atanu Biswas
A 55-year-old male presented with apraxia of gait with exaggerated upper limb movement with relative preservation of cognition and mild spasticity of limbs. His investigations reveal posterior-predominant leukodystrophy in brain magnetic resonance imaging (MRI) and compound heterozygous mutations in mitochondrial alanyl-transfer RNA synthetase 2 ( AARS2 ) by next generation sequencing. His asymptomatic brother also has MRI changes with subtle mild pyramidal signs. AARS2 mutation is a rare cause of mitochondrial encephalopathy which may give rise to leukodystrophy with premature ovarian failure, infantile cardiomyopathy, lung hypoplasia and myopathy...
2022: Tremor and Other Hyperkinetic Movements
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