ABSTRACT
The influence of brain atrophy on sleep microstructure in Spinocerebellar Ataxias (SCAs) has not been extensively explored limiting the use of these sleep traits as surrogate biomarkers of neurodegeneration and clinical phenotype. The objective of the study is to explore the relationship between sleep microstructure and brain atrophy in SCA2 and its role in the clinical phenotype. Fourteen SCA2 mutation carriers (7 pre-manifest and 7 manifest subjects) underwent polysomnographic, structural MRI, and clinical assessments. Particularly, markers of REM and non-REM sleep microstructure, measures of cerebellar and brainstem atrophy, and clinical scores were analyzed through correlation and mediation analyses. The sleep spindle activity exhibited a negative correlation with the number of trials required to complete the verbal memory test (VMT), and a positive correlation with the cerebellar volume, but the significance of the latter correlation did not survive multiple testing corrections. However, the causal mediation analyses unveiled that sleep spindle activity significantly mediates the association between cerebellar atrophy and VMT performance. Regarding REM sleep, both phasic EMG activity and REM sleep without atonia exhibited significant associations with pontine atrophy and disease severity measures. However, they did not demonstrate a causal mediation effect between the atrophy measures and disease severity. Our study provides evidence about the association of the pontocerebellar atrophy with sleep microstructure in SCA2 offering insights into the cerebellar involvement in cognition via the control of the sleep spindle activity. Therefore, our findings may help to understand the disease pathogenesis and to better characterize sleep microstructure parameters as disease biomarkers.Clinical trial registration number (TRN): No applicable.
ABSTRACT
Objective: Spinocerebellar ataxia type 2 (SCA2) is an autosomal dominantly inherited neurodegenerative disease mainly affecting the cerebellum and brainstem. In this Cuban-German research collaboration, we aimed to characterize atrophy patterns and associations with clinical measures in preclinical and manifest SCA2. Methods: In this study, 16 nonmanifest SCA2 mutation carriers, 26 manifest patients with SCA2, and 18 healthy control subjects underwent magnetic resonance imaging, as well as genetic and clinical characterization including assessment of ataxia (Scale for the Assessment and Rating of Ataxia) and saccade velocity in Cuba were enrolled. Semiautomated quantitative volumetry of the cerebellum and brainstem, subdivided into the medulla oblongata, the pontine brainstem, and mesencephalon was performed. Additionally, the anteroposterior diameter of the pontine brainstem was measured. Results: Analysis of volumetric data revealed degeneration of the cerebellum and brainstem, in particular of pontine volumes and the anteroposterior diameter of the pons, in both manifest SCA2 patients and individuals at risk for SCA2 compared to controls. Comparing patients with nonataxic preclinical SCA2 mutation carriers, we found more pronounced reductions of the pontine brainstem and cerebellum in manifest SCA2. Volumetric data further showed associations with CAG repeat length and predicted age of onset in preclinical SCA2 individuals, and by trend with ataxia signs in patients. Although saccade velocity was associated with reduction in the pontine brainstem in preclinical and manifest SCA2, reduced ability to suppress interfering stimuli measured by the Stroop task was related to cerebellar volume loss in patients. Interpretation: Preclinical SCA2 mutation carriers exhibit brain abnormalities, which could be targeted as surrogate parameters for disease progression and in future preventive trials.
ABSTRACT
La neurotoxoplasmosis es una de las infecciones oportunistas más frecuentes en el paciente infectado por el virus de inmunodeficiencia humana y se presenta con diversidad de manifestaciones clínicas en el huésped inmunoafectado; se considera además una enfermedad definitoria de sida en aproximadamente el 5 % en los pacientes infectados por este virus. Se presentó un paciente de 24 años de edad, con antecedentes de VIH, ingresado con fiebre, cefalea intensa y vómitos. El test de toxoplasma fue positivo. La tomografía axial computarizada tras la administración endovenosa de contraste mostró la presencia de dos imágenes nodulares isodensas con realce anular una de 16 x 12 mm parietal derecha y otra de 26 x 22 mm parietal izquierda, concluyéndose como una toxoplasmosis cerebral. Las técnicas de neuroimagen tienen valor para su diagnóstico, las más empleadas son la TAC y la imagen de resonancia magnética. El diagnóstico diferencial debe realizarse en estos casos con los linfomas y tumores primarios del sistema nervioso central, las metástasis cerebrales y los infartos cerebrales. El pronóstico de los pacientes con esta afección depende de un diagnóstico precoz y un tratamiento eficaz.
The neurotoxoplasmosis (NTX) is one of the most common opportunistic infections in patients infected with human immunodeficiency virus and is presented with diverse clinical manifestations in immunocompromised host; it is also considered an AIDS-defining illness in approximately 5 % of patients infected with this virus. A patient of 24 years with a history of HIV, admitted with fever, severe headache and vomiting was presented. The toxoplasma test was positive. Computed tomography (CT) after intravenous administration that showed the presence of two nodular ring enhancement isodense with a 16 x 12 mm right parietal and a 26 x 22 mm left parietal, concluding as a cerebral toxoplasmosis. Neuroimaging techniques are valuable for diagnosis; the most used are CT and magnetic resonance. The differential diagnosis should be made in these cases with lymphoma and primary central nervous system tumors, brain metastases and stroke. The prognosis of patients with this condition depends on early diagnosis and effective treatment.
ABSTRACT
La neurotoxoplasmosis es una de las infecciones oportunistas más frecuentes en el paciente infectado por el virus de inmunodeficiencia humana y se presenta con diversidad de manifestaciones clínicas en el huésped inmunoafectado; se considera además una enfermedad definitoria de sida en aproximadamente el 5 por ciento en los pacientes infectados por este virus. Se presentó un paciente de 24 años de edad, con antecedentes de VIH, ingresado con fiebre, cefalea intensa y vómitos. El test de toxoplasma fue positivo. La tomografía axial computarizada tras la administración endovenosa de contraste mostró la presencia de dos imágenes nodulares isodensas con realce anular una de 16 x 12 mm parietal derecha y otra de 26 x 22 mm parietal izquierda, concluyéndose como una toxoplasmosis cerebral. Las técnicas de neuroimagen tienen valor para su diagnóstico, las más empleadas son la TAC y la imagen de resonancia magnética. El diagnóstico diferencial debe realizarse en estos casos con los linfomas y tumores primarios del sistema nervioso central, las metástasis cerebrales y los infartos cerebrales. El pronóstico de los pacientes con esta afección depende de un diagnóstico precoz y un tratamiento eficaz(AU)
The neurotoxoplasmosis (NTX) is one of the most common opportunistic infections in patients infected with human immunodeficiency virus and is presented with diverse clinical manifestations in immunocompromised host; it is also considered an AIDS-defining illness in approximately 5 percent of patients infected with this virus. A patient of 24 years with a history of HIV, admitted with fever, severe headache and vomiting was presented. The toxoplasma test was positive. Computed tomography (CT) after intravenous administration that showed the presence of two nodular ring enhancement isodense with a 16 x 12 mm right parietal and a 26 x 22 mm left parietal, concluding as a cerebral toxoplasmosis. Neuroimaging techniques are valuable for diagnosis; the most used are CT and magnetic resonance. The differential diagnosis should be made in these cases with lymphoma and primary central nervous system tumors, brain metastases and stroke. The prognosis of patients with this condition depends on early diagnosis and effective treatment(AU)
Subject(s)
Humans , Male , Adult , Toxoplasmosis, Cerebral/diagnosis , Toxoplasmosis, Cerebral , AIDS-Related Opportunistic Infections/diagnosisABSTRACT
The prodromal phase of spinocerebellar ataxias (SCAs) has not been systematically studied. Main findings come from a homogeneous SCA type 2 (SCA2) population living in Cuba. The aim of this study was to characterize extensively the prodromal phase of SCA2 by several approaches. Thirty-seven non-ataxic SCA2 mutation carriers and its age- and sex-matched controls underwent clinical assessments, including standardized neurological exam, structured interviews and clinical scales, and looking for somatic and autonomic features, as well as a neuropsychological battery, antisaccadic recordings, and MRI scans. Main clinical somatic features of non-ataxic mutation carriers were cramps, sensory symptoms, sleep disorders, and hyperreflexia, whereas predominating autonomic symptoms were pollakiuria/nocturia, constipation, and frequent throat clearing. Cognitive impairments included early deficits of executive functions and visual memory, suggesting the involvement of cerebro-cerebellar-cerebral loops and/or reduced cholinergic basal forebrain input to the cortex. Antisaccadic task revealed impaired oculomotor inhibitory control but preserved ability for error correction. Cognitive and antisaccadic deficits were higher as carriers were closer to the estimated onset of ataxia, whereas higher Scale for the Assessment and Rating of Ataxia (SARA) scores were associated most notably to vermis atrophy. The recognition of early features of SCA2 offers novel insights into the prodromal phase and physiopathological base of the disease, allowing the assessment of its progression and the efficacy of treatments, in particular at early phases when therapeutical options should be most effective.
Subject(s)
Spinocerebellar Ataxias/epidemiology , Spinocerebellar Ataxias/physiopathology , Adult , Aged , Ataxins , Brain/pathology , Brain/physiopathology , Cognition Disorders/epidemiology , Cognition Disorders/genetics , Cognition Disorders/pathology , Cognition Disorders/physiopathology , Cuba/epidemiology , Eye Movement Measurements , Female , Humans , Interviews as Topic , Magnetic Resonance Imaging , Male , Middle Aged , Mutation , Nerve Tissue Proteins/genetics , Neurologic Examination , Neuropsychological Tests , Prodromal Symptoms , Saccades , Severity of Illness Index , Spinocerebellar Ataxias/genetics , Spinocerebellar Ataxias/pathology , Young AdultABSTRACT
La neuritis es una de las enfermedades más frecuentes que afectan el nervio óptico y presenta una clara relación con algunas entidades específicas, entre ellas la esclerosis múltiple. La esclerosis múltiple es la principal enfermedad desmielinizante del sistema nervioso central a nivel mundial que afecta a individuos en etapas productivas de la vida y resulta de especial interés por la variedad de su presentación, su dificultad diagnóstica, los factores concurrentes para su desarrollo y su probable etiología. Se presentó una paciente de 34 años de edad, puérpera con un cuadro de neuritis óptica como forma de presentación de la esclerosis múltiple. El diagnóstico se realizó mediante el uso de resonancia magnética nuclear.
Optic neuritis is one of the most common diseases that affects the optic nerve and is it clearly related to some specific pathologies including multiple sclerosis. Multiple sclerosis is the primary demyelinating disease of the central nervous system that affects individuals in productive stages of life. This disease has a variety regarding presentation, difficulty in diagnosing and its associated factors as well as its possible etiology. It presented a 34 - year- old female patient with puerperal optic neuritis as form of present of multiple sclerosis. The magnetic resonance imaging delivered the diagnosis.
ABSTRACT
La neuritis es una de las enfermedades más frecuentes que afectan el nervio óptico y presenta una clara relación con algunas entidades específicas, entre ellas la esclerosis múltiple. La esclerosis múltiple es la principal enfermedad desmielinizante del sistema nervioso central a nivel mundial que afecta a individuos en etapas productivas de la vida y resulta de especial interés por la variedad de su presentación, su dificultad diagnóstica, los factores concurrentes para su desarrollo y su probable etiología. Se presentó una paciente de 34 años de edad, puérpera con un cuadro de neuritis óptica como forma de presentación de la esclerosis múltiple. El diagnóstico se realizó mediante el uso de resonancia magnética nuclear(AU)...
Optic neuritis is one of the most common diseases that affects the optic nerve and is it clearly related to some specific pathologies including multiple sclerosis. Multiple sclerosisis the primary demyelinating disease of the central nervous system that affects individuals in productive stages of life. This disease has a variety regarding presentation,difficulty in diagnosing and its associated factors as well as its possible etiology. It presented a ,34, year old female patient with puerperal optic neuritis as form of present of multiple sclerosis. The magnetic resonance imaging delivered the diagnosis(AU)...
Subject(s)
Humans , Female , Adult , Optic Neuritis/complications , Multiple Sclerosis/diagnosis , Magnetic Resonance Spectroscopy , Multiple Sclerosis/etiologyABSTRACT
Se realizó un estudio prospectivo de series de casos procedentes de las Consultas de Endocrinología y Oncología del Hospital Lenin en el período de enero a agosto de 2009, a los cuales se les realizó ecografía convencional y doppler color. El universo estuvo conformado por todas las pacientes con nódulos tiroideos sólidos o complejos (55 mujeres) con algún hallazgo ecográfico sospechoso de malignidad y la muestra estuvo conformada por 46 pacientes que presentaron resultado citológico positivo o negativo. La imagen hipoecogénica, con calcificaciones, presencia de contornos irregulares y flujo central fueron más frecuentes en los nódulos diagnosticados como malignos por la citología, que en los benignos...(AU)
A prospective study in female patients from Endocrinology and Oncology Services at Vladimir Ilich Lenin Hospital from January to August, 2009 was carried out. The ecography and color Doppler was done...(AU)
