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1.
Muscle Nerve ; 69(5): 637-642, 2024 May.
Artículo en Inglés | MEDLINE | ID: mdl-38456240

RESUMEN

INTRODUCTION/AIMS: The global incidence and prevalence of myasthenia gravis (MG) range between 6-31/million and 10-37/100,000, respectively. Sardinia is a high-risk region for different immune-mediated disorders, but the epidemiology of MG remains unclear. We determined the epidemiology of MG with acetylcholine receptor (AChR)-immunoglobulin G (IgG) and muscle-specific tyrosine kinase (MuSK)-IgG in the district of Sassari (North-Western Sardinia; population, 325,288). METHODS: From the laboratory of the University Hospital of Sassari (reference for AChR/MuSK-IgG testing in Sardinia since 1998) and the main neurology units in Sardinia, we retrospectively identified MG patients with (1) AChR-IgG and/or MuSK-IgG positivity by radioimmunoprecipitation assay; and (2) residency in the district of Sassari. Incidence (January 2010-December 2019) and prevalence (December 31, 2019) were calculated. RESULTS: A total of 202 patients were included (incident, 107; prevalent, 180). Antibody specificities were AChR (n = 187 [93%]) and MuSK (n = 15 [7%]). The crude MG incidence (95% confidence interval) was 32.6 (26.8-39.2)/million, while prevalence was 55.3 (47.7-63.9)/100,000. After age-standardization to the world population, incidence decreased to 18.4 (14.3-22.5)/million, while prevalence decreased to 31.6 (26.1-37.0)/100,000. Among incident cases, age strata (years) at MG onset were: <18 (2%), 18-49 (14%), 50-64 (21%), and ≥65 (63%). DISCUSSION: Sardinia is a high-risk region for MG, with a prevalence that exceeds the European threshold for rare disease. Identification of the environmental and genetic determinants of this risk may improve our understanding of disease pathophysiology.


Asunto(s)
Autoanticuerpos , Miastenia Gravis , Humanos , Estudios Retrospectivos , Proteínas Tirosina Quinasas Receptoras , Miastenia Gravis/epidemiología , Receptores Colinérgicos , Inmunoglobulina G
2.
Neurologist ; 22(6): 245-246, 2017 Nov.
Artículo en Inglés | MEDLINE | ID: mdl-29095328

RESUMEN

INTRODUCTION: Large expansions of the noncoding GGGGCC repeat (more than 30) in the first intron of the C9ORF72 gene have been demonstrated to cause amyotrophic lateral sclerosis and frontotemporal dementia. Recent papers have investigated the possible pathogenic role and associated clinical phenotypes of hexanucleotide expansions with intermediate repeat lengths ranging between 20 and 29 repeats. CASE REPORT: We report a case of a 71-year-old Sardinian female patient with a long history of psychiatric disorders such as mixed anxiety-depressive disorder associated with somatization disorder and histrionic personality who developed a slowly progressive cerebellar syndrome, mild cognitive impairment, pyramidal signs, and rapid eye movement sleep behavior disorder with imaging abnormalities on the DaTSCAN single-photon emission computed tomography indicating an alteration in the presynaptic dopaminergic system. The patient was found to have intermediate C9ORF72 repeat expansions. CONCLUSIONS: Early psychiatric presentations are a recurrent phenotypic manifestation of C9ORF72 expansions. In our patient, the intermediate C9ORF72 repeat expansion may have a pathogenic role in the cooccurrence of psychiatric and sleep disorders, cognitive dysfunctions, pyramidal system involvement, and late-onset cerebellar ataxia. This observation widens the spectrum of neurodegenerative conditions linked to C9ORF72 mutations.


Asunto(s)
Proteína C9orf72/genética , Ataxia Cerebelosa/genética , Demencia Frontotemporal/genética , Mutación/genética , Anciano , Esclerosis Amiotrófica Lateral/genética , Estudios de Cohortes , Femenino , Humanos
3.
Mov Disord ; 20(1): 26-33, 2005 Jan.
Artículo en Inglés | MEDLINE | ID: mdl-15390039

RESUMEN

Meige's syndrome presents with a combination of upper and lower facial motor dysfunction, including eye closing spasms and oromandibular dystonia. While the pathophysiology of eye closing spasms has been extensively studied using the blink reflex and other trigeminofacial reflexes, very few studies have been carried out with regard to the abnormal perioral movements. We hypothesized that action-related dystonic features could be revealed by the analysis of the semiautomatic rhythmic movements required for chewing and swallowing. A total of 7 patients with Meige's syndrome that complained of chewing problems and 7 age-matched healthy volunteers were studied. Subjects were instructed to munch and swallow a small muffin while surface electromyographic (EMG) activity of masseter (MAS) and orbicularis oris (OOr) of the dominant side was recorded. In healthy subjects, MAS and OOr showed a rhythmic alternating phasic EMG pattern during chewing, which changed to a tonic cocontraction of both muscles during swallowing. Mean duration of MAS and OOr EMG bursts was, respectively, 297 +/- 28 msec and 328 +/- 29 msec. Patients exhibited the following alterations: excess duration of muscle activity, frequent cocontraction, loss of rhythmicity during chewing, and abnormalities in the chewing to swallowing transition phase. These abnormalities, similar in type to those encountered in other forms of focal dystonia, may be the expression of an abnormal motor control of basal ganglia over mastication-related movement pattern generators of the brainstem.


Asunto(s)
Masticación/fisiología , Síndrome de Meigs/fisiopatología , Anciano , Anciano de 80 o más Años , Análisis de Varianza , Estudios de Casos y Controles , Deglución/fisiología , Electromiografía/métodos , Femenino , Humanos , Masculino , Músculo Masetero/fisiopatología , Músculos Oculomotores/fisiopatología , Tiempo de Reacción/fisiología , Factores de Tiempo
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