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Archives of Neurology May 1991We studied 13 patients with supranuclear lower cranial nerve ("pseudobulbar" or "suprabulbar") palsy of acute onset. While seven patients had had a prior stroke, six...
We studied 13 patients with supranuclear lower cranial nerve ("pseudobulbar" or "suprabulbar") palsy of acute onset. While seven patients had had a prior stroke, six patients had no history of stroke. Eight patients experienced a complete bilateral supranuclear lower cranial nerve palsy, which was isolated in five patients and associated with hemiplegia and with hemiparesis in three patients. Pseudobulbar palsy was partial in five patients. Only one patient had neuropsychologic impairment. The pseudobulbar features improved or recovered within a few weeks in all patients. The common characteristic of the lesions on computed tomography or magnetic resonance imaging was the interruption of the corticonuclear pathways contrasting with marked sparing of the corticospinal pathways in both hemispheres. These lesions were either an opercular infarct, or a deep infarct in the corona radiata or internal capsule, or a lenticular hemorrhage. Hypertension was the most prevalent concomitant. Our findings suggest that acute pseudobulbar or suprabulbar palsy has rather stereotyped anatomic-vascular correlates and time course.
Topics: Acute Disease; Adult; Aged; Aged, 80 and over; Cardiovascular Diseases; Cerebral Hemorrhage; Cerebral Infarction; Female; Humans; Magnetic Resonance Imaging; Male; Middle Aged; Neuropsychological Tests; Paralysis; Tomography, X-Ray Computed
PubMed: 2021363
DOI: 10.1001/archneur.1991.00530170061021 -
Acta Paediatrica (Oslo, Norway : 1992) Mar 2009Disorders of neuronal migration are a heterogeneous group of disorders of nervous system development. One of the most frequent disorders is lissencephaly, characterized... (Review)
Review
UNLABELLED
Disorders of neuronal migration are a heterogeneous group of disorders of nervous system development. One of the most frequent disorders is lissencephaly, characterized by a paucity of normal gyri and sulci resulting in a 'smooth brain'. There are two pathologic subtypes: classical and cobblestone. Six different genes could be responsible for this entity (LIS1, DCX, TUBA1A, VLDLR, ARX, RELN), although co-delection of YWHAE gene with LIS1 could result in Miller-Dieker Syndrome. Heterotopia is defined as a cluster of normal neurons in abnormal locations, and divided into three main groups: periventricular nodular heterotopia, subcortical heterotopia and marginal glioneural heterotopia. Genetically, heterotopia is related to Filamin A (FLNA) or ADP-ribosylation factor guanine exchange factor 2 (ARFGEF2) genes mutations. Polymicrogyria is described as an augmentation of small circonvolutions separated by shallow enlarged sulci; bilateral frontoparietal form is characterized by bilateral, symmetric polymicrogyria in the frontoparietal regions. Bilateral perisylvian polymicrogyria results in a clinical syndrome manifested by mild mental retardation, epilepsy and pseudobulbar palsy. Gene mutations linked to this disorder are SRPX2, PAX6, TBR2, KIAA1279, RAB3GAP1 and COL18A1. Schizencephaly, consisting in a cleft of cerebral hemisphere connecting extra-axial subaracnoid spaces and ventricles, is another important disorder of neuronal migration whose clinical characteristics are extremely variable. EMX2 gene could be implicated in its genesis. Focal cortical dysplasia is characterized by three different types of altered cortical laminations, and represents one of most severe cause of epilepsy in children. TSC1 gene could play a role in its etiology.
CONCLUSION
This review reports the main clinical, genetical and neuroradiological aspects of these disorders. It is hoped that accumulating data of the development mechanisms underlying the expanded network formation in the brain will lead to the development of therapeutic options for neuronal migration disorders.
Topics: Animals; Genes, Developmental; Humans; Magnetic Resonance Imaging; Malformations of Cortical Development, Group II; Reelin Protein
PubMed: 19120042
DOI: 10.1111/j.1651-2227.2008.01160.x -
Dysphagia Mar 2024Patients with pseudobulbar palsy often present with velopharyngeal incompetence. Velopharyngeal incompetence is usually observed during expiratory activities such as...
Patients with pseudobulbar palsy often present with velopharyngeal incompetence. Velopharyngeal incompetence is usually observed during expiratory activities such as speech and/or blowing during laryngoscopy. These patients typically exhibit good velopharyngeal closure during swallowing, which is dissociated from expiratory activities. We named this phenomenon "speech-swallow dissociation" (SSD). SSD on endoscopic findings can help in diagnosing the underlying disease causing dysphagia. This endoscopic finding is qualitative, and the quantitative characteristics of SSD are still unclear. Accordingly, the current study aimed to quantitatively evaluate SSD in patients with pseudobulbar palsy. We evaluated velopharyngeal pressure during swallowing and expiratory activity in 10 healthy subjects and 10 patients with pseudobulbar palsy using high-resolution manometry, and compared the results between the two groups. No significant differences in maximal velopharyngeal contraction pressure (V-Pmax) were observed during dry swallowing between the pseudobulbar palsy group and healthy subjects (190.5 mmHg vs. 173.6 mmHg; P = 0.583). V-Pmax during speech was significantly decreased in the pseudobulbar palsy group (85.4 mmHg vs. 34.5 mmHg; P < 0.001). The degree of dissociation of speech to swallowing in V-Pmax, when compared across groups, exhibited a larger difference in the pseudobulbar palsy group, at 52% versus 80% (P = 0.001). Velopharyngeal pressure during blowing was similar to that during speech. Velopharyngeal closure in patients with pseudobulbar palsy exhibited weaker pressure during speech and blowing compared with swallowing, quantitatively confirming the presence of SSD. Pseudobulbar palsy often presents with SSD, and this finding may be helpful in differentiating the etiology of dysphagia.
PubMed: 38492048
DOI: 10.1007/s00455-024-10687-1 -
Clinical and Experimental Hypertension... 2006Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is an inherited autosomal dominant condition characterized by... (Review)
Review
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is an inherited autosomal dominant condition characterized by migrane, recurrent stroke, subcortical dementia, and pseudobulbar palsy. It begins with migraine with aura in -33% of patients. CADASIL is commonly overlooked or misdiagnosed owing to its recent identification. The pathological hallmark of angiopathy is the presence of multiple, small, deep cerebral infarcts, leucoencephalopathy, and nonatherorosclerotic, nonamyloid angiopathy involving mainly small, deep perforating cerebral arteries. Changes also are present in vascular smooth muscle cells and consist in the presence of granular osmiophilic material (GOM). The defective gene in CADASIL is Notch 3, which encodes a large transmembrane receptor. Magnetic resonance imaging shows high intensity signal lesions, often confluent, and areas of cystic degeneration of subcortical white matter and basal ganglia. Diagnostic strategies in CADASIL are matter of discussions because the electron microscopic demonstration of GOM was reported in 100% of symptomatic patients of French authors, but only in 45% of a British study. GOMs are not present in presymptomatic patients.
Topics: CADASIL; Cerebral Infarction; DNA; Dementia, Multi-Infarct; Diagnosis, Differential; Humans; Magnetic Resonance Imaging; Mutation; Prevalence; Prognosis; Receptor, Notch3; Receptors, Notch
PubMed: 16833034
DOI: 10.1080/10641960600549223 -
Dementia & Neuropsychologia 2012Vascular Parkinsonism (VP) is a form of secondary Parkinsonism resulting from cerebrovascular disease. Estimates of the frequency of VP vary greatly worldwide; 3% to 6%... (Review)
Review
Vascular Parkinsonism (VP) is a form of secondary Parkinsonism resulting from cerebrovascular disease. Estimates of the frequency of VP vary greatly worldwide; 3% to 6% of all cases of Parkinsonism are found to have a vascular etiology. In a Brazilian community-based study on Parkinsonism, 15.1% of all cases were classified as VP, the third most common form, with a prevalence of 1.1% in an elderly cohort. Another Brazilian survey found a prevalence of 2.3% of VP in the elderly. VP is usually the result of conventional vascular risk factors, particularly hypertension, leading to strategic infarcts of subcortical gray matter nuclei, diffuse white matter ischaemic lesions and less commonly, large vessel infarcts. Patients with VP tend to be older and present with gait difficulties, symmetrical predominant lower-body involvement, poor levodopa responsiveness, postural instability, falls, cognitive impairment and dementia, corticospinal findings, urinary incontinence and pseudobulbar palsy. This article intends to provide physicians with an insight on the practical issues of VP, a disease potentially confounded with vascular dementia, idiopathic Parkinson's disease, dementia with Lewy bodies and other secondary causes of Parkinsonism.
PubMed: 29213787
DOI: 10.1590/S1980-57642012DN06030005 -
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 -
The Medical Letter on Drugs and... Jun 2011
Topics: Dextromethorphan; Drug Combinations; Drug Interactions; Humans; Pseudobulbar Palsy; Quinidine
PubMed: 21659969
DOI: No ID Found -
Journal of Neural Transmission.... 1994Progressive supranuclear palsy (PSP) is characterized clinically by supranuclear gaze palsy, neck dystonia, parkinsonism, pseudobulbar palsy, gait imbalance with... (Review)
Review
Progressive supranuclear palsy (PSP) is characterized clinically by supranuclear gaze palsy, neck dystonia, parkinsonism, pseudobulbar palsy, gait imbalance with frequent falls and frontal lobe-type dementia. In the advanced typical case, when supranuclear gaze palsy and other main features are present diagnosis is relatively easy. Diagnostic problems, though, are frequent in the early stages due to the variable clinical presentation and in those atypical cases in which gaze palsy does not develop or that present as a severe dementia disorder or as an isolated akinetic-rigid syndrome. In this review we summarize the clinical features of PSP and emphasize those aspects helpful in the differential diagnosis with Parkinson's disease and other motor and cognitive disorders that can pose difficult diagnostic problems. Clinical diagnostic criteria are also discussed and modifications of those currently in used are proposed.
Topics: Diagnosis, Differential; Dystonia; Gait; Humans; Neuropsychological Tests; Ocular Motility Disorders; Paralysis; Parkinson Disease; Supranuclear Palsy, Progressive
PubMed: 7964684
DOI: 10.1007/978-3-7091-6641-3_2 -
Nederlands Tijdschrift Voor Geneeskunde Mar 2004Progressive supranuclear palsy is a neurodegenerative disorder accompanied by parkinsonism, disturbances of eye movements, pseudobulbar palsy and often cognitive... (Review)
Review
Progressive supranuclear palsy is a neurodegenerative disorder accompanied by parkinsonism, disturbances of eye movements, pseudobulbar palsy and often cognitive decline. Onset of disease is usually between 50-70 years of age and mean survival is 5-8 years. The prevalence of PSP has been estimated at around 5 per 100,000, although exact figures for the population of the Netherlands are not yet available. International consensus criteria differentiate between possible, probable and definite PSP; the latter requiring neuropathological confirmation. An extensive differential diagnosis may be made early in the course of the disease, but at a later stage development of the characteristic symptoms will make diagnosis easier. Imaging techniques can lend support to the clinical diagnosis to a limited extent, although they lack sufficient specificity to confirm it. PSP is a 'tauopathy' characterized by aggregates of abnormal tau protein in the basal ganglia and brainstem. Some mutations in the tau gene can cause a clinical and pathological picture similar to that of PSP, although most patients with sporadic and familial PSP do not have tau mutations. Various studies have found a strong association between PSP and a specific tau haplotype (H1 haplotype), but its role in the pathophysiological mechanism of PSP is still unclear and needs further research.
Topics: Age Factors; Aged; Diagnosis, Differential; Humans; Middle Aged; Mutation; Parkinsonian Disorders; Supranuclear Palsy, Progressive; tau Proteins
PubMed: 15054950
DOI: No ID Found -
Journal of Neurology Feb 2016Progressive supranuclear palsy (PSP) is a progressive neurodegenerative disorder characterized by postural instability and falls, vertical supranuclear gaze palsy,...
Progressive supranuclear palsy (PSP) is a progressive neurodegenerative disorder characterized by postural instability and falls, vertical supranuclear gaze palsy, parkinsonism with poor levodopa response, pseudobulbar palsy, and frontal release signs. The natural history of the disease has been previously described. However, the time frame of appearance of clinical milestones and how these symptoms may relate to survival in PSP are unknown. The primary objective was to determine the prevalence of symptoms at different stages of PSP and to estimate the time of appearance of clinical symptoms characteristic of the disease. Second, we determined the association between clinical symptoms and survival. We prospectively studied 35 PSP patients during assessments scheduled every 6 months for up to 2 years. We estimated symptoms prevalence and the association between symptoms and survival. The median age of onset was 65.9 years (IQR 60.6-70.0), and the median time from onset to first assessment was 3.0 years (IQR 2.4-3.9). The most commonly reported symptoms at baseline were: motor (100%) followed by cognitive/behavioral (89%), systemic and bulbar (80%), and sleep disturbances (60%). Slowness of movement, falls, neck stiffness and difficulty looking up/down had high prevalence from baseline, while balance and gait impairment were less common at baseline but increased in prevalence over time. The presence of sleep disturbances, and possibly hallucinations, was associated with increased death risk. Improved recognition of the clinical spectrum and milestones of PSP advances knowledge of the disease, helps earlier diagnosis, and allows prognostic predictions.
Topics: Aged; Disease Progression; Female; Follow-Up Studies; Humans; Kaplan-Meier Estimate; Male; Middle Aged; Proportional Hazards Models; Prospective Studies; Supranuclear Palsy, Progressive
PubMed: 26705121
DOI: 10.1007/s00415-015-7990-2