-
Diagnostics (Basel, Switzerland) Nov 2023The term "Osmotic Demyelination Syndrome" (ODS) is synonymous with central pontine myelinolysis (CPM), denoting a condition characterised by brain damage, particularly...
The term "Osmotic Demyelination Syndrome" (ODS) is synonymous with central pontine myelinolysis (CPM), denoting a condition characterised by brain damage, particularly affecting the white matter tracts of the pontine region. This damage arises due to the rapid correction of metabolic imbalances, primarily cases of hyponatremia. Noteworthy triggers encompass severe burns, liver transplantations, anorexia nervosa, hyperemesis gravidarum, and hyperglycaemia, all linked to the development of CPM. Clinical manifestations encompass a spectrum of signs and symptoms, including dysphagia, dysarthria, spastic quadriparesis, pseudobulbar paralysis, ataxia, lethargy, tremors, disorientation, catatonia, and, in severe instances, locked-in syndrome and coma. A recent case involving a 45-year-old woman illustrates these complexities. Upon admission to the Medicine Intensive Care Unit, she presented with symptoms indicative of diminished responsiveness and bilateral weakness in the upper and lower limbs. Of significance, the patient had a pre-existing medical history of hyperthyroidism. Extensive diagnostic investigations were undertaken, revealing compelling evidence of profound hyponatremia through blood analyses. Furthermore, magnetic resonance imaging (MRI) was performed, unveiling conspicuous areas of abnormal hyperintensity located in the central pons, intriguingly accompanied by spared peripheral regions. These radiological findings align with the characteristic pattern associated with osmotic demyelination syndrome, illuminating the underlying pathology.
PubMed: 37958289
DOI: 10.3390/diagnostics13213393 -
Molecular Medicine Reports Mar 2022Progressive supranuclear palsy (PSP) is a neurodegenerative tauopathy described as a syndrome of postural instability, supranuclear vertical gaze palsy, dysarthria,...
Progressive supranuclear palsy (PSP) is a neurodegenerative tauopathy described as a syndrome of postural instability, supranuclear vertical gaze palsy, dysarthria, dystonic rigidity of the neck and trunk, dementia, and pseudobulbar palsy. The clinical diagnosis of PSP is often difficult because there are no established biomarkers, and diagnosis is currently based on clinical and imaging findings. Furthermore, the etiology and pathogenesis of PSP remain unknown. Dysregulation of microRNAs (miRNAs/miRs) has been reported to serve an important role in neurodegenerative diseases. However, the miRNA profiles of patients with PSP are rarely reported. The present study aimed to examine cerebrospinal fluid miRNAs, which are considered to be more sensitive indicators of changes in the brain, to elucidate the pathophysiology of PSP and to establish specific biomarkers for diagnosis. The present study used a microarray chip containing 2,632 miRNAs to examine cerebrospinal fluid miRNA expression levels in 11 patients with PSP aged 68‑82 years. A total of 8 age‑ and sex‑matched controls were also included. A total of 38 miRNAs were significantly upregulated and one miRNA was significantly downregulated in the cerebrospinal fluid of patients with PSP. The patients were divided into two groups based on disease stage (early onset and advanced), and changes in miRNA expression were examined. The miRNAs that were most significantly upregulated or downregulated in the early onset group were miR‑204‑3p, miR‑873‑3p and miR‑6840‑5p. The target genes of these miRNAs were associated with molecules related to the ubiquitin‑proteasome system and autophagy pathway. Furthermore, these miRNAs were found to target genes that have been reported to have epigenetic changes following an epigenome‑wide association study of brain tissues of patients with PSP. This suggested that these miRNAs and genes may have some involvement in the pathogenesis of PSP. However, the sample size of the present study was small; therefore, a greater number of patients with PSP should be examined in future studies.
Topics: Aged; Aged, 80 and over; Biomarkers; Female; Gene Expression Profiling; Gene Expression Regulation; Humans; Male; MicroRNAs; Middle Aged; Sensitivity and Specificity; Supranuclear Palsy, Progressive; Syndrome
PubMed: 35039873
DOI: 10.3892/mmr.2022.12604 -
Contemporary Nurse Aug 2022Pseudobulbar affect (PBA) has recently been added to the list of mental disorders commonly observed in patients with Multiple Sclerosis (MS). The emotional changes...
BACKGROUND
Pseudobulbar affect (PBA) has recently been added to the list of mental disorders commonly observed in patients with Multiple Sclerosis (MS). The emotional changes experienced by MS patients may be associated with other mental problems and adversely affect disease prognosis. However, there are limited studies in the international and national literature on this subject.
AIM
This study aimed to evaluate the relationship between PBA and stress, anxiety, and depression levels in patients with MS.
DESIGN
This is a descriptive, relational, and cross-sectional study.
METHODS
A total of 442 MS patients followed in the neurology outpatient clinic of a hospital and registered with the MS Society in Turkey participated in this study. Data were collected using a personal information form, the Turkish version of the Center for Neurologic Study-Lability Scale (CNS-LS), and the Depression Anxiety Stress Scale (DASS).
RESULTS
In this study, 63.3% of the patients had PBA, 21% had extremely severe depression, 41.6% had extremely severe anxiety, and 24.9% had severe stress. Correlation analysis revealed weak positive correlations between CNS-LS total score and DASS subscale and total scores. Depression, anxiety, and stress levels accounted for 22.5% of the variation in CNS-LS total score.
CONCLUSION
The results of this study indicate that a majority of MS patients in Turkey experience PBA, depression, anxiety, and stress, and that PBA is positively associated with depression, anxiety, and stress.
IMPACT STATEMENT
This study, indicates that should be increased consultation-liaison psychiatry services in Turkey, and MS patients should benefit from comprehensive psychiatric services.
Topics: Humans; Pseudobulbar Palsy; Multiple Sclerosis; Cross-Sectional Studies; Depression; Anxiety
PubMed: 35880717
DOI: 10.1080/10376178.2022.2107037 -
Clinical Gerontologist 2020: Recently, new criteria for sensitive and specific clinical diagnosis of progressive supranuclear palsy (PSP) have been addressed while distinct clinical phenotypes of...
: Recently, new criteria for sensitive and specific clinical diagnosis of progressive supranuclear palsy (PSP) have been addressed while distinct clinical phenotypes of the disorder have been increasingly described in the literature. This study aimed to describe past and present aspects of the disease as well as to highlight the cognitive and behavioral profile of PSP patients in relation to the underlying pathology, genetics and treatment procedures.: A Medline and Scopus search was performed to identify articles published on this topic. Articles published solely in English were considered.: The most common clinical characteristics of PSP included early postural instability and falls, vertical supranuclear gaze palsy, parkinsonism with poor response to levodopa and pseudobulbar palsy. Frontal dysfunction and verbal fluency deficits were the most distinct cognitive impairments in PSP while memory, visuospatial and social cognition could also be affected. Apathy and impulsivity were also present in PSP patients and had significant impact on relatives and caregivers.: PSP is a neurodegenerative disorder with prominent tau neuropathology. Movement, motivation and communication impairments in patients with PSP may limit participation in everyday living activities. Comprehensive neuropsychological assessments are of significant importance for PSP cognitive evaluation. Pharmacologic and non-pharmacologic approaches could be applied in order to relieve patients and improve quality of life.: Executive dysfunction is the most notable cognitive impairment and dominates the neuropsychological profile of patients with PSP.
Topics: Activities of Daily Living; Cognitive Dysfunction; Humans; Neuropsychological Tests; Phenotype; Quality of Life; Supranuclear Palsy, Progressive
PubMed: 31752626
DOI: 10.1080/07317115.2019.1694115 -
Ugeskrift For Laeger Jul 2022Sudden onset anarthria and dysphagia without lateralised neurologic symptoms should prompt an investigation for pseudobulbar palsy, either due to bilateral vascular...
Sudden onset anarthria and dysphagia without lateralised neurologic symptoms should prompt an investigation for pseudobulbar palsy, either due to bilateral vascular lesions of the corticobulbar tracts or, less frequently, Foix-Chavany-Marie Syndrome (FCMS). Here, bilateral damage to the frontal opercular cortex leads to loss of voluntary control of muscles supplied by cranial nerves V, VII, IX, X, XI, and XII. This case report presents a rare case of FCMS on the background of traumatic cerebral lesions following a bicycle incident.
Topics: Deglutition Disorders; Dysarthria; Facial Paralysis; Humans; Syndrome
PubMed: 35959814
DOI: No ID Found -
Clinical Neurology and Neurosurgery Jun 2020Depression, anxiety, and obsessive-compulsive disorder have been widely reported in patients with dystonia. On the other hand, cognitive impairment, frontal lobe...
OBJECTIVE
Depression, anxiety, and obsessive-compulsive disorder have been widely reported in patients with dystonia. On the other hand, cognitive impairment, frontal lobe function, impulsiveness and pseudobulbar affect are less studied. The objective of the study is to assess these neuropsychiatric symptoms along with the quality of life of subjects with craniocervical dystonia.
PATIENTS AND METHODS
A cross-sectional study was carried out in patients with craniocervical dystonia. Sex- and age-matched healthy controls were included. Neuropsychiatric assessment included the Montreal Cognitive Assessment (MoCA), Frontal Assessment Battery (FAB), Barrat Impulsiveness Scale (BIS-11), Center for Neurologic Study-Lability Scale (CNS-LS), Anxiety Rating Scale (HAM-A), Hamilton Depression Rating Scale (HAM-D), and the 12-item Short Form Health Survey (SF-12).
RESULTS
A total of 44 patients with craniocervical dystonia and 44 controls were included. The mean age was 57 ± 13.7 years. Depression (56.1 % vs 9.1 %, p < 0.001), anxiety (56.8 % vs 6.8 %, p < 0.001), and pseudobulbar affect (31.8 % vs 9.1 %, p = 0.02) were more common in the dystonia group in comparison to controls. No difference between groups was found in impulsiveness (p = 0.65), MoCA score (p = 0.14) or executive dysfunction (p = 0.42). Quality of life was worst in the dystonia group with 90.9 % (p = 0.03) and 61.4 % (p < 0.001) of the subjects scoring under average in the Physical Composite Score (PCS) and Mental Composite Score (MCS) of the SF-12.
CONCLUSION
MoCA scores ≤18, pseudobulbar affect, depression and anxiety are more prevalent in subjects with craniocervical dystonia in comparison to sex- and age-matched healthy controls. Regarding quality of life, MCS is more affected that the PCS in subjects with dystonia.
Topics: Adult; Aged; Anxiety; Case-Control Studies; Cognitive Dysfunction; Cross-Sectional Studies; Depression; Executive Function; Female; Humans; Impulsive Behavior; Male; Mental Status and Dementia Tests; Middle Aged; Neuropsychological Tests; Pseudobulbar Palsy; Quality of Life; Torticollis
PubMed: 32203707
DOI: 10.1016/j.clineuro.2020.105794 -
Revue Des Maladies Respiratoires Oct 2021Complications following COVID-19 are starting to emerge; neurological disorders are already described in the literature.
INTRODUCTION
Complications following COVID-19 are starting to emerge; neurological disorders are already described in the literature.
CASE REPORT
This case is about a 20-year old male with a severe COVID-19, hospitalized in a Reanimation and Intensive Care Unit with an Acute Respiratory Distress Syndrome, thromboembolic complication and secondary bacterial infection. This patient had a non-specific neurological disorder with a pseudobulbar palsy, (MRI, ENMG and lumbar puncture were normal), associated 4 months later with persistent left shoulder motor deficit and respiratory failure. Respiratory and neurological check-up led to a diagnosis of the Parsonage-Turner syndrome or neuralgic amyotrophy affecting C5-C6 nerve roots, the lateral pectoral and phrenic nerves at the origin of the scapular belt, amyotrophy and left diaphragm paralysis.
CONCLUSIONS
This case shows that persistant dyspnoea after COVID 19 infection should lead to a search for a diaphragmatic cause which is not always the result of Reanimation Neuropathy but may also indicate a neuralgic amyotrophy. It is the fourth case of neuralgic amyotrophy following COVID-19. This brings the medical community to consider the risk of diaphragm paralysis apart from critical illness polyneuropathy. Respiratory muscle evaluation and diaphragmatic ultrasound should be considered in case of persistent dyspnoea.
Topics: Brachial Plexus Neuritis; COVID-19; Humans; Male; Phrenic Nerve; Respiratory Paralysis; SARS-CoV-2; Young Adult
PubMed: 34325956
DOI: 10.1016/j.rmr.2021.06.004 -
Neuropathology : Official Journal of... Feb 2023Here, we describe two patients who presented with focal cortical signs and underwent neuropathological examination. Case 1 was a 73-year-old woman with progressive... (Review)
Review
Here, we describe two patients who presented with focal cortical signs and underwent neuropathological examination. Case 1 was a 73-year-old woman with progressive speech disorder and abnormal behavior. She showed agraphia of the frontal lobe type, featured by the omission of kana letters when writing, other than pyramidal tract signs, pseudobulbar palsy, and frontal lobe dementia. Neuropathological examination, including TAR DNA-binding protein 43 (TDP-43) immunohistochemistry, revealed bilateral frontal and anterior temporal lobe lesions accentuated in the precentral gyrus and posterior part of the middle frontal gyrus. Both upper and lower motor neurons showed pathological changes compatible with amyotrophic lateral sclerosis. Case 2 was a 62-year-old man with progressive speech disorder and hand clumsiness. He had a motor speech disorder, compatible with apraxia of speech, and limb apraxia of the limb-kinetic and ideomotor type. Neuropathological examination revealed degeneration in the left frontal lobe, including the precentral gyrus, anterior temporal, and parietal lobe cortices. Moreover, numerous argyrophilic neuronal intracytoplasmic inclusions (Pick body) and ballooned neurons were observed in these lesions and the limbic system. The pathological diagnosis was Pick disease involving the peri-Rolandic area and parietal lobe. In these two cases, the distribution of neuropathological changes in the cerebral cortices correlated with the clinical symptoms observed.
Topics: Male; Female; Humans; Aged; Middle Aged; Amyotrophic Lateral Sclerosis; Motor Neurons; Dementia; Temporal Lobe; Apraxias
PubMed: 36328774
DOI: 10.1111/neup.12854 -
Neurology Feb 2024A 5-year-old boy presented with subacute motor regression since age 2.5 years. Examination revealed spasticity of bilateral lower extremities, generalized dystonia, and...
A 5-year-old boy presented with subacute motor regression since age 2.5 years. Examination revealed spasticity of bilateral lower extremities, generalized dystonia, and pseudobulbar palsy. Investigations revealed raised plasma lactate (2.5 mmol/L, normal range 0.8-1.5 mmol/L) and no evidence of sideroblastic anemia. Neuroimaging showed cavitating leukoencephalopathy with involvement of long tracts (corticospinal, spinothalamic tracts) and dorsolateral columns of cervicothoracic cord (Figures 1 and 2). A next-generation sequencing test identified a novel homozygous missense variant (c.171C > A, p.Phe57Leu) in exon 1 of the Glutaredoxin-5 (GLRX5) gene.
Topics: Male; Humans; Child, Preschool; Hyperglycinemia, Nonketotic; Glutaredoxins; Mutation, Missense; Homozygote; Exons
PubMed: 38175985
DOI: 10.1212/WNL.0000000000208105