John Charles Steele (1934-2022) byl kanadský neurolog, který spolu s Richardsonem a Olszewskim popsal novou nozologickou jednotku, které byla původně pojmenována eponymně, časem se ale ujalo označení progresivní supranukleární paralýza. Později se věnoval epidemiologickému a klinickému výzkumu endemického onemocnění amyotrofická laterální skleróza - parkinsonismus - demence komplex z ostrova Guam, zdokumentoval jeho výskyt, fenotypy, klinickou manifestaci, dědičnost a klesající incidenci i prevalenci. Zabýval se taktéž patofyziologií tohoto onemocnění, a řadu let zastával názor, že se jedná o hereditární polygenní onemocnění; až ke konci života přijal hypotézu, která manifestaci nemoci přisuzovala chronické intoxikaci neurotoxickými sloučeninami obsaženými v cykasových plodech: beta-methylamino-L-alanin (BMAA) a metylazoxymetanol (MAM).
John Charles Steele (1934-2022) was a Canadian neurologist who, together with Richardson and Olszewski, described a new nosological entity that was originally named eponymously; however, over time, it became known as progressive supranuclear palsy. Later, he was concerned with epidemiological and clinical research on the endemic disease of amyotrophic lateral sclerosis-parkinsonism-dementia complex of Guam, documenting its occurrence, phenotypes, clinical manifestations, heredity, and decreasing incidence as well as prevalence. He also studied the pathophysiology of this disease, for years holding the view that it was a hereditary polygenic disease; it was only at the end of his life that he accepted the hypothesis which attributed the manifestation of the disease to chronic intoxication with neurotoxic compounds contained in cycad fruits: beta-methylamino-L-alanine (BMAA) and methylazoxymethanol (MAM).
- MeSH
- Humans MeSH
- Neurodegenerative Diseases history MeSH
- Neurology history MeSH
- Supranuclear Palsy, Progressive * history MeSH
- Famous Persons MeSH
- Check Tag
- Humans MeSH
- Publication type
- Biography MeSH
- About
- Steele, John C Authority
INTRODUCTION: Corticobasal syndrome (CBS) is a specific clinical manifestation shared by multiple pathologies. The exact mechanism of this phenomenon remains unclear. Differential diagnosis of CBS in everyday clinical practice is challenging, as this syndrome can overlap with other entities, especially progressive supranuclear palsy Richardson-Steele phenotype (PSP-RS). Several papers have suggested a possible role of vascular pathology as a linking factor in the pathogenesis of CBS based on different neuropathologies. This paper analyses differences in the occurrence of the most common vascular risk factors such as hypertension and lipid profile with respect to dietary habits among patients who fulfill the diagnostic criteria for probable/possible CBS and PSP-RS. MATERIAL AND METHODS: Seventy (70) patients in total were included in the study. Exclusion criteria comprised hydrocephalus, stroke in the past, the presence of marked vascular changes in white matter defined as the presence of vascular change ≥ 1 mm in 3T MRI, medical history of hyperlipidemia or the use of drugs that could impact upon lipid metabolism before the initiation of the neurodegenerative disease, and neoplastic focuses in the central nervous system. Patients with diabetes, or with BMI exceeding 18-25, or who were smokers, or who were affected by chronic stress were also excluded. Data was analysed statistically using the Shapiro-Wilk test, the U Mann-Whitney test for group comparison, and a Bonferroni correction to control the false discovery rate (FDR). RESULTS: Our obtained results indicated a statistically significantly higher level of total cholesterol in the CBS group (p = 0.0039) without a correlation with dietary habits. CONCLUSIONS AND CLINICAL IMPLICATIONS: The results obtained in our study may suggest a possible role of vascular pathology in CBS development. This issue requires further research.
Predkladáme Vám kazuistiku 64-ročného pacienta s cervikálnou myelopatiou preloženého na naše oddelenie z neurochirurgickej kliniky pre rozvoj ľavostrannej internukleárnej oftalmoplégie a lézie n. facialis. Doplnené MR mozgu vylúčilo možnú cievnu mozgovú príhodu. Počas hospitalizácie sme opakovane realizovali laboratórne odbery a lumbálne punkcie, vďaka ktorým sme spolu s paraklinickými vyšetreniami dospeli až ku konečnej diagnóze neuroboreliózy.
We present a case report of a 64-year-old patient with cervical myelopathy who was transferred to our department from the Department of Neurosurgery for appearance of left-sided internuclear ophthalmoplegia and facial palsy. The following MR of the brain excluded a possible stroke. Laboratory samplings and lumbar punctures performed repeatedly during hospitalization together with paraclinic examinations, which helped us to reach out the final diagnosis of neuroborreliosis.
- MeSH
- Middle Aged MeSH
- Humans MeSH
- Lyme Neuroborreliosis * diagnosis complications therapy MeSH
- Ophthalmoplegia etiology MeSH
- Treatment Outcome MeSH
- Check Tag
- Middle Aged MeSH
- Humans MeSH
- Male MeSH
- Publication type
- Case Reports MeSH
The aim of this study was to describe the ocular phenotype in a case with Kearns-Sayre syndrome (KSS) spectrum and to determine if corneal endothelial cell dysfunction could be attributed to other known distinct genetic causes. Herein, genomic DNA was extracted from blood and exome sequencing was performed. Non-coding gene regions implicated in corneal endothelial dystrophies were screened by Sanger sequencing. In addition, a repeat expansion situated within an intron of TCF4 (termed CTG18.1) was genotyped using the short tandem repeat assay. The diagnosis of KSS spectrum was based on the presence of ptosis, chronic progressive external ophthalmoplegia, pigmentary retinopathy, hearing loss, and muscle weakness, which were further supported by the detection of ~6.5 kb mtDNA deletion. At the age of 33 years, the proband's best corrected visual acuity was reduced to 0.04 in the right eye and 0.2 in the left eye. Rare ocular findings included marked corneal oedema with central corneal thickness of 824 and 844 μm in the right and left eye, respectively. No pathogenic variants in the genes, which are associated with corneal endothelial dystrophies, were identified. Furthermore, the CTG18.1 genotype was 12/33, which exceeds a previously determined critical threshold for toxic RNA foci appearance in corneal endothelial cells.
- MeSH
- Adult MeSH
- Phenotype MeSH
- Fuchs' Endothelial Dystrophy pathology MeSH
- Genotype MeSH
- Cataract genetics MeSH
- Kearns-Sayre Syndrome genetics MeSH
- Humans MeSH
- DNA, Mitochondrial MeSH
- Endothelium, Corneal pathology physiopathology MeSH
- Sequence Deletion MeSH
- Exome Sequencing MeSH
- Transcription Factor 4 genetics MeSH
- Trinucleotide Repeats * MeSH
- Check Tag
- Adult MeSH
- Humans MeSH
- Male MeSH
- Publication type
- Journal Article MeSH
- Case Reports MeSH
- Research Support, Non-U.S. Gov't MeSH
Magnetická rezonancia (MR) je štandardnou súčasťou diferenciálne diagnostického procesu u pacientov s extrapyramídovými ochoreniami, pričom po vylúčení poliekového, toxického alebo funkčného pôvodu ťažkostí zvykne byť prvým štandardným krokom v ďalšom diagnostickom procese. V tomto článku budú bližšie prediskutované nálezy, ktoré s pomerne veľkou pravdepodobnosťou poukazujú na špecifické ochorenia pri danej klinickej fenomenológii, rozdelené na parkinsonské syndrómy, ochorenia asociované s akumuláciou kovov v mozgu (železo, mangán, meď) a ostatné ochorenia s typickými MR nálezmi vrátane Huntingtonovej choroby, syndrómu tremoru/ataxie asociovaného s fragilným X chromozómom (FXTAS) a hemichorey pri hyperglykémii.
Magnetic resonance imaging (MRI) is a standard part of the differential diagnostic process in movement disorders and is typically performed as the first diagnostic step after excluding drug-induced, toxic or functional origin of the disorder. This review discusses MRI findings which are rather typical for different movement disorders in combination with a specific clinical phenomenology divided into three subcategories: atypical parkinsonism, disorders associated with brain metal accumulation (iron, manganese and copper) and other movement disorders.
- MeSH
- Creutzfeldt-Jakob Syndrome diagnostic imaging diagnosis MeSH
- Hepatolenticular Degeneration diagnostic imaging diagnosis MeSH
- Huntington Disease diagnostic imaging diagnosis MeSH
- Magnetic Resonance Imaging methods MeSH
- Multiple System Atrophy diagnostic imaging diagnosis MeSH
- Basal Ganglia Diseases * diagnostic imaging diagnosis MeSH
- Neuroaxonal Dystrophies diagnostic imaging diagnosis MeSH
- Parkinsonian Disorders * diagnostic imaging diagnosis MeSH
- Iron Metabolism Disorders diagnostic imaging diagnosis MeSH
- Supranuclear Palsy, Progressive diagnostic imaging diagnosis MeSH
- Fragile X Syndrome diagnostic imaging diagnosis MeSH
BACKGROUND: Various cerebrospinal fluid (CSF) biomarkers are studied in Parkinson's disease (PD) and atypical parkinsonian syndromes (APS). Several studies found reduced 5-hydroxyindoleacetic acid (5-HIAA), the main serotonin metabolite, in PD. There is little evidence regarding its levels in APS. METHODS: We measured 5-HIAA in the CSF of 90 PD patients, 16 MSA patients, 26 progressive supranuclear palsy (PSP) patients, 11 corticobasal syndrome (CBS) patients, and 31 controls. We also compared the values in depressed and nondepressed patients. RESULTS: There was a statistically significant difference in CSF 5-HIAA in PD and MSA compared to the control group (median in PD 15.8 μg/L, in MSA 13.6 μg/L vs. 24.3 μg/L in controls; p = 0.0008 in PD, p = 0.006 in MSA). There was no statistically significant difference in CSF 5-HIAA in PSP and CBS compared to the control group (median in PSP 22.7 μg/L, in CBS 18.7 μg/L vs. 24.3 μg/L in controls; p = 1 in both PSP and CBS). CSF 5-HIAA levels were lower in PD patients with depression compared to PD patients without depression (median 8.34 vs. 18.48, p < 0.0001). CONCLUSIONS: CSF 5-HIAA is decreased in PD and MSA. The CSF 5-HIAA levels in PSP and CBS did not differ from those of the control group. There was a tendency toward lower CSF 5-HIAA in MSA than in PD; however, the results did not reach statistical significance. These results may be explained by more severe damage of the serotonergic system in synucleinopathies (PD and MSA) than in tauopathies (PSP and CBS).
- MeSH
- Diagnosis, Differential MeSH
- Hydroxyindoleacetic Acid MeSH
- Humans MeSH
- Multiple System Atrophy * diagnosis MeSH
- Parkinson Disease * diagnosis MeSH
- Parkinsonian Disorders * metabolism MeSH
- Supranuclear Palsy, Progressive * MeSH
- Tauopathies * MeSH
- Check Tag
- Humans MeSH
- Publication type
- Journal Article MeSH
- Research Support, Non-U.S. Gov't MeSH
OBJECTIVE: To investigate whether tau phosphorylated at Thr217 (p-tau T217) assay in CSF can distinguish patients with Alzheimer disease (AD) from patients with other dementias and healthy controls. METHODS: We developed and validated a novel Simoa immunoassay to detect p-tau T217 in CSF. There was a total of 190 participants from 3 cohorts with AD (n = 77) and other neurodegenerative diseases (n = 69) as well as healthy participants (n = 44). RESULTS: The p-tau T217 assay (cutoff 242 pg/mL) identified patients with AD with accuracy of 90%, with 78% positive predictive value (PPV), 97% negative predictive value (NPV), 93% sensitivity, and 88% specificity, compared favorably with p-tau T181 ELISA (52 pg/mL), showing 78% accuracy, 58% PPV, 98% NPV, 71% specificity, and 97% sensitivity. The assay distinguished patients with AD from age-matched healthy controls (cutoff 163 pg/mL, 98% sensitivity, 93% specificity), similarly to p-tau T181 ELISA (cutoff 60 pg/mL, 96% sensitivity, 86% specificity). In patients with AD, we found a strong correlation between p-tau T217 and p-tau T181, total tau and β-amyloid 40, but not β-amyloid 42. CONCLUSIONS: This study demonstrates that p-tau T217 displayed better diagnostic accuracy than p-tau T181. The data suggest that the new p-tau T217 assay has potential as an AD diagnostic test in clinical evaluation. CLASSIFICATION OF EVIDENCE: This study provides Class III evidence that a CSF immunoassay for p-tau T217 distinguishes patients with AD from patients with other dementias and healthy controls.
- MeSH
- Alzheimer Disease cerebrospinal fluid diagnosis MeSH
- Amyloid beta-Peptides cerebrospinal fluid MeSH
- Diagnosis, Differential MeSH
- Frontotemporal Dementia cerebrospinal fluid diagnosis MeSH
- Immunoassay methods standards MeSH
- Cohort Studies MeSH
- Middle Aged MeSH
- Humans MeSH
- Neurodegenerative Diseases cerebrospinal fluid diagnosis MeSH
- Peptide Fragments cerebrospinal fluid MeSH
- Predictive Value of Tests MeSH
- Aphasia, Primary Progressive cerebrospinal fluid diagnosis MeSH
- Supranuclear Palsy, Progressive cerebrospinal fluid diagnosis MeSH
- tau Proteins cerebrospinal fluid MeSH
- Reproducibility of Results MeSH
- Aged, 80 and over MeSH
- Aged MeSH
- Sensitivity and Specificity MeSH
- Tauopathies cerebrospinal fluid diagnosis MeSH
- Check Tag
- Middle Aged MeSH
- Humans MeSH
- Male MeSH
- Aged, 80 and over MeSH
- Aged MeSH
- Female MeSH
- Publication type
- Journal Article MeSH
- Evaluation Study MeSH
- Research Support, Non-U.S. Gov't MeSH
Clear speech refers to intentionally modifying conversational speech to maximise intelligibility. This study aimed to compare the speech behaviour of patients with progressive supranuclear palsy (PSP), multiple system atrophy (MSA) and Parkinson's disease (PD) under conversational and clear speech conditions to gain greater pathophysiological insight. A total of 68 participants including 17 PD, 17 MSA, 17 PSP and 17 healthy controls (HC) performed two readings of the same standardized passage. During the first reading, participants were instructed to read the text in an ordinary way, while during the second reading to read the text as clearly as possible. Acoustic analyses were based upon measurements of mean loudness, loudness variability, pitch variability, vowel articulation, articulation rate and speech severity. During clear speech production, PD patients were able to achieve improvements mainly in loudness (p < 0.05) and pitch variability (p < 0.001), leading to a reduction in overall speech severity (p < 0.001), whereas PSP and MSA patients were able to modulate only articulation rate (p < 0.05). Contrary to HC and PD groups, which slowed or maintained articulation rate, PSP and MSA groups employed a markedly faster articulation rate under the clear speech condition indicating an opposing approach to speech adaptation. Patients with atypical Parkinsonism showed a different strategy to intentionally improve their speech performance following a simple request to produce speech more clearly compared to PD, suggesting important therapeutic implications for speech rehabilitation management.
Progresivní supranukleární obrna je onemocnění z okruhu atypických parkinsonských syndromů řadící se mezi tauopatie. Mezi jeho hlavní příznaky patří poruchy okulomotoriky, časná posturální instabilita, symetrický hypokineticko-rigidní syndrom s axiální převahou a kognitivní deficit. Spektrum příznaků a rychlost progrese se liší v závislosti na konkrétní variantě onemocnění. Diagnostika se opírá především o klinický nález a z podpůrných metod zůstává na prvním místě MR. Text je zaměřen především na klinický obraz a současný pohled na diagnostiku, reflektující nově vznikající doporučení. Kauzální terapie neexistuje, proto je třeba maximálně využít možnosti symptomatické terapie.
Progressive supranuclear palsy is a tauopathy belonging to atypical Parkinsonian syndromes. The main clinical symptoms include oculomotor dysfunctions, early postural instability, symmetrical hypokinetic-rigid syndrome with axial predominance and cognitive decline. The symptom variability and rate of progression depend on disease subtype. Diagnostics are based on clinical symptoms; MRI remains the most useful auxiliary method. The article is focused mainly on clinical perspectives and recent diagnostic approaches considering the latest recommendations. Symptomatic therapy remains of great importance as causal treatment is still lacking.
- Keywords
- paréza vertikálního pohledu, posturální instabilita,
- MeSH
- Amantadine therapeutic use MeSH
- Cognitive Dysfunction MeSH
- Levodopa therapeutic use MeSH
- Humans MeSH
- Parkinsonian Disorders MeSH
- Postural Balance MeSH
- Supranuclear Palsy, Progressive * diagnosis physiopathology therapy MeSH
- Tauopathies MeSH
- Check Tag
- Humans MeSH
- Publication type
- Research Support, Non-U.S. Gov't MeSH
- Review MeSH
