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1.
Mult Scler Relat Disord ; 38: 101869, 2020 Feb.
Artículo en Inglés | MEDLINE | ID: mdl-31785490

RESUMEN

The identification of AQP4-IgG, a specific and pathogenic antibody of NMO/SD has led to a broadening of the clinical spectrum of manifestations of NMO/SD including the presence of encephalic symptoms. Lesions are often distributed on peri­ependymal area and sometimes affected the diencephalon leading to sleep disorders. We report a case of hypersomnia with polysomnographic documentation during the first attack of NMO/SD. Brain MRI revealed bilateral hypothalamic lesions around the third ventricle, whereas optic nerves and spinal cord were intact. The record of the nocturnal video-polysomnography followed by multiple sleep latency tests (MSLT) revealed an abnormal shortened sleep period with a single sleep onset in REM allowing secondary central hypersomnia diagnosis. The recovery of hypersomnia was complete within few months without psychostimulant treatment and the diencephalic lesion disappeared. Thus, diencephalic form of NMO/SD seems to cause narcolepsy or non-narcoleptic central hypersomnia and have a good recovery.


Asunto(s)
Trastornos de Somnolencia Excesiva/etiología , Neuromielitis Óptica/complicaciones , Adolescente , Acuaporina 4/inmunología , Trastornos de Somnolencia Excesiva/patología , Trastornos de Somnolencia Excesiva/fisiopatología , Femenino , Humanos , Hipotálamo/patología , Imagen por Resonancia Magnética , Neuromielitis Óptica/inmunología , Polisomnografía , Tercer Ventrículo/patología
3.
J Neurol Sci ; 396: 112-118, 2019 01 15.
Artículo en Inglés | MEDLINE | ID: mdl-30448717

RESUMEN

OBJECTIVE: To describe the phenotype and the response to folinic acid supplementation of cerebral folate deficiency (CFD) in adults, a disorder diagnosed on low 5-methyltetrahydro-folate (5MTHF) in cerebrospinal fluid (CSF), which can correspond to a inherited disorder of folate metabolism (IDFM) or to a metabolic consequence of various neurological diseases. METHODS: We conducted a retrospective study on 224 adult patients with neurological symptoms who had a 5MTHF CSF dosage, collecting their neurologic and neuroimaging data. RESULTS: 69 patients had CFD (CSF 5MTHF level < 41 nmol/L), 25 of them had severe CFD (sCFD; ≤25 nmol/L) with adult onset neurological symptoms in 41%. 56% of sCFD patients had an underlying identified neurologic disorder, mainly mitochondrial diseases, hepatic encephalopathy and primary brain calcifications (no identified IDFM), the others were classified as undiagnosed. sCFD patients presented most frequently pyramidal syndrome (75%), movement disorders (56%), cerebellar syndrome (50%) and intellectual disability (46%). MRI findings mostly showed white matter abnormalities (WMA; 32%) and calcifications (12%), and were normal in 23%. The clinico-radiological phenotype of sCFD patients was not clearly different from non CFD patients in terms of manifestations frequency. However, their neurological picture was more complex with a higher number of combined neurological symptoms (4.7±1.6 vs 3.4±1.7, p = .01). In Magnetic Resonance Spectroscopy (MRS), Choline/Creatine (Cho/Cr) ratio was lower in sCFD patients (n = 7) compared to non-CFD patients (n = 73) (p = .005), with good sensitivity (71%) and excellent specificity (92%). Among twenty-one CFD patients treated with folinic acid, nine had a sustained improvement, all with sCFD but one (50% of sCFD patients improved). In two undiagnosed patients with extremely low 5MTHF CSF values, MRI WMA and low Cho/Cr ratios, folinic acid treatment leaded to a dramatic clinical and radiological improvement. CONCLUSION: CSF 5MTHF dosage should be considered in patients with mitochondrial diseases, primary brain calcifications and unexplained complex neurological disorders especially if associated with WMA, since folinic acid supplementation in patients with sCFD is frequently efficient.


Asunto(s)
Enfermedades Cerebelosas/complicaciones , Deficiencia de Ácido Fólico/complicaciones , Deficiencia de Ácido Fólico/genética , Mutación/genética , Proteínas/genética , Adolescente , Adulto , Anciano , Calcinosis/diagnóstico por imagen , Calcinosis/etiología , Calcinosis/genética , Enfermedades Cerebelosas/líquido cefalorraquídeo , Enfermedades Cerebelosas/diagnóstico por imagen , Enfermedades Cerebelosas/genética , Niño , Preescolar , Femenino , Ácido Fólico/líquido cefalorraquídeo , Deficiencia de Ácido Fólico/líquido cefalorraquídeo , Deficiencia de Ácido Fólico/diagnóstico por imagen , Estudios de Seguimiento , Humanos , Lactante , Recién Nacido , Discapacidad Intelectual , Imagen por Resonancia Magnética , Masculino , Persona de Mediana Edad , Enfermedades Mitocondriales/diagnóstico por imagen , Enfermedades Mitocondriales/etiología , Estudios Retrospectivos , Tetrahidrofolatos/líquido cefalorraquídeo , Sustancia Blanca/diagnóstico por imagen , Sustancia Blanca/patología , Adulto Joven
4.
Mult Scler ; 24(3): 313-321, 2018 03.
Artículo en Inglés | MEDLINE | ID: mdl-28394203

RESUMEN

OBJECTIVE: We employed diffusion-weighted magnetic resonance spectroscopy (DW-MRS), which allows to measure in vivo the diffusion properties of metabolites, to explore the functional neuro-axonal damage and the ongoing energetic dysregulation in multiple sclerosis (MS). METHODS: Twenty-five patients with MS and 18 healthy controls (HC) underwent conventional magnetic resonance imaging (MRI) and DW-MRS. The apparent diffusion coefficient (ADC) of total N-acetyl-aspartate (tNAA) and creatine-phosphocreatine (tCr) were measured in the parietal normal-appearing white matter (NAWM) and in the thalamic grey matter (TGM). Multiple regressions were used to compare metabolite ADCs between groups and to explore clinical correlations. RESULTS: In patients compared with HCs, we found a reduction in ADC(tNAA) in the TGM, reflecting functional and structural neuro-axonal damage, and in ADC(tCr) in both NAWM and TGM, possibly reflecting a reduction in energy supply in neurons and glial cells. Metabolite ADCs did not correlate with tissue atrophy, lesional volume or metabolite concentrations, while in TGM metabolite ADCs correlated with clinical scores. CONCLUSION: DW-MRS showed a reduction in tCr diffusivity in the normal-appearing brain of patients with MS, which might reflect a state of ongoing energy dysregulation affecting neurons and/or glial cells. Reversing this energy dysregulation before neuro-axonal degeneration arises may become a key objective in future neuroprotective strategies.


Asunto(s)
Ácido Aspártico/análogos & derivados , Creatina/metabolismo , Imagen de Difusión por Resonancia Magnética/métodos , Metabolismo Energético , Espectroscopía de Resonancia Magnética/métodos , Esclerosis Múltiple/metabolismo , Fosfocreatina/metabolismo , Tálamo/metabolismo , Sustancia Blanca/metabolismo , Adulto , Ácido Aspártico/metabolismo , Atrofia/patología , Femenino , Humanos , Masculino , Persona de Mediana Edad , Esclerosis Múltiple/diagnóstico por imagen , Esclerosis Múltiple/patología , Tálamo/diagnóstico por imagen , Tálamo/patología , Sustancia Blanca/diagnóstico por imagen , Sustancia Blanca/patología
5.
Neurosurgery ; 70(1): 66-9, 2012 Jan.
Artículo en Inglés | MEDLINE | ID: mdl-21768914

RESUMEN

BACKGROUND: Surgical options of multiple sclerosis (MS) tremor treatment are limited and narrowed to thalamotomy or deep brain stimulation of the thalamic nucleus ventralis intermedius. Lack of qualification protocol frequently results in poor outcome. OBJECTIVE: To determine prospectively the efficacy and safety of unilateral ventralis intermedius deep brain stimulation as a tool to control disabling kinetic arm tremor related to MS. METHODS: Neurological and neuropsychological evaluations were performed 1 month and 1 day before surgery and 1, 3, and 6 months after surgery. The evaluation included measurement of tremor and dexterity, Extended Disability Status Scale, Mini Mental State Examination, and quality-of-life assessment. Nine consecutive patients were enrolled in the group. Mean age at the time of surgery was 38.9 ± 9 years; median Extended Disability Status Scale at baseline was 7.1. Mean MS duration was 11.7 years, and mean tremor duration was 6.11 years. Mean postural and kinetic scores and hand capacity were measured. RESULTS: One month after surgery, median scores off and on stimulation were 12 and 6 for postural tremor, 12 and 10.5 for kinetic tremor score, 12 and 7.5 for manual capacity, and 22 and 20 for functional handicap, respectively. Similar results were 10 and 4, respectively, at the 3-month follow-up. Six months after surgery, median scores off and on stimulation were 10.4 and 4 for postural tremor and 12 and 7.8 for kinetic tremor, respectively. CONCLUSION: This prospective study confirms the value and safety of ventralis intermedius deep brain stimulation for treatment of kinetic tremor related to MS. Accurate and precise presurgical qualification plays a key role in successful treatment.


Asunto(s)
Estimulación Encefálica Profunda/métodos , Personas con Discapacidad , Lateralidad Funcional/fisiología , Tálamo/fisiología , Temblor/terapia , Adulto , Femenino , Estudios de Seguimiento , Humanos , Masculino , Persona de Mediana Edad , Esclerosis Múltiple/complicaciones , Esclerosis Múltiple/terapia , Resultado del Tratamiento , Temblor/etiología
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