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1.
Cephalalgia ; 30(12): 1419-25, 2010 Dec.
Artículo en Inglés | MEDLINE | ID: mdl-20974602

RESUMEN

INTRODUCTION: Bilateral transverse sinus stenosis (BTSS) has been reported to be associated with idiopathic intracranial hypertension without papilloedema in headache sufferers. SUBJECTS AND METHODS: To test the accuracy of short-term cerebrospinal fluid (CSF) pressure monitoring through a lumbar needle for detection of elevated intracranial pressure in headache sufferers with BTSS, we prospectively performed lumbar puncture in order to measure lumbar CSF opening pressures and to monitor, for 1 h, the CSF pressure in 48 consecutive headache sufferers with BTSS and in 50 consecutive headache sufferers with normal appearance of transverse sinuses or stenosis of one transverse sinus. RESULTS: Of the 48 headache sufferers with BTSS, 18 (37.5%) had elevated CSF opening pressure and abnormal pressure waveforms, but short-term CSF pressure monitoring revealed abnormal pressure waves associated with elevated mean CSF pressure also in 26 (86.6%) out of 30 patients who had normal opening pressures. None of the 50 headache sufferers with normal appearance of transverse sinuses or stenosis of one transverse sinus had abnormal pressure waves and elevated CSF pressures. CONCLUSIONS: In this study, short-term CSF pressure monitoring through a lumbar needle revealed abnormal pressure waves and elevated mean CSF pressures in the majority of headache sufferers with BTSS who had normal CSF opening pressures. These findings demonstrate the accuracy of short-term CSF pressure monitoring through a lumbar needle in estimating CSF pressure; they also highlight that a single-spot opening pressure measurement has a low accuracy for recognition of increased intracranial pressure in headache sufferers with BTSS.


Asunto(s)
Presión del Líquido Cefalorraquídeo/fisiología , Cefalea/líquido cefalorraquídeo , Seudotumor Cerebral/líquido cefalorraquídeo , Seudotumor Cerebral/diagnóstico , Senos Transversos/patología , Adulto , Constricción Patológica/complicaciones , Femenino , Cefalea/etiología , Humanos , Angiografía por Resonancia Magnética , Masculino , Seudotumor Cerebral/etiología , Punción Espinal
2.
Clin Genet ; 77(2): 183-8, 2010 Feb.
Artículo en Inglés | MEDLINE | ID: mdl-19968671

RESUMEN

Mutations in the gene DJ-1 have been shown to be a rare cause of early-onset Parkinson's disease (EOPD). Since DJ-1 mutations have been found in patients with Parkinson's disease (PD) from southern Italy, we aimed to investigate whether polymorphisms within the DJ-1 gene could represent a risk factor for sporadic PD. First, we genotyped 294 patients with PD and 298 controls coming from southern Italy to assess the distribution of the insertion/deletion (Ins/Del) polymorphism. In a second phase, we identified five single-nucleotide polymorphisms (SNPs) useful to delimit a region potentially involved and genotyped all patients and controls for these markers. All the markers analyzed were significantly associated with PD at both allelic and genotypic level. The most significant association with the disease was found at the Ins/Del polymorphism (p = 0.0001; adjusted odds ratio (OR ) = 2.05; confidence interval (CI ) = 1.36-3.08). When we considered a three-marker sliding window, we found a highly significant association between the disease and the haplotypes including markers rs17523802, Ins/Del, and rs3766606 (p = 0.0007) and markers Ins/Del, rs3766606 and rs7517357 (p = 0.0054). Our results indicate that polymorphisms located in a region spanning 3535 bp from the promoter to the intron 2 of the DJ-1 gene confer risk to sporadic PD in southern Italy.


Asunto(s)
Predisposición Genética a la Enfermedad , Péptidos y Proteínas de Señalización Intracelular/genética , Proteínas Oncogénicas/genética , Enfermedad de Parkinson/genética , Polimorfismo Genético , Adulto , Anciano , Anciano de 80 o más Años , Femenino , Marcadores Genéticos , Genotipo , Humanos , Italia , Masculino , Persona de Mediana Edad , Proteína Desglicasa DJ-1 , Factores de Riesgo
3.
J Neurol ; 255(6): 807-12, 2008 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-18458863

RESUMEN

Previous MR studies have established that bilateral transverse sinus stenosis (BTSS) predicts idiopathic intracranial hypertension without papilledema (IIHWOP) in migraine. However, it is uncertain whether BTSS identifies IIHWOP in patients with chronic tension-type headache (CTTH): using cerebral MR venography this study aimed to address this question.In a prospective study from February 2002 to December 2006, 198 consecutive patients with CTTH underwent MR venography. Of these patients, 58 underwent lumbar puncture to measure cerebrospinal fluid (CSF) pressure. MR venography and lumbar puncture were also performed in 45 age-matched control subjects. BTSS was considered present when the signal flow was poor or lacking (flow gap) in the mid-lateral portion of both transverse sinuses. IIHWOP was diagnosed if the patient met the diagnostic criteria for idiopathic intracranial hypertension and did not have papilledema. Among the 198 patients with CTTH who underwent MR venography, 18 (9%) had BTSS. Thirteen of these 18 patients with BTSS underwent lumbar puncture, and nine (69.2%) had IIHWOP. CSF opening pressure was normal in all 45 patients as well as in all 45 controls with normal MR venography.These data suggest that BTSS on MR venography is associated with increased intracranial pressure in the absence of papilledema in patients with headache mimicking CTTH.


Asunto(s)
Senos Craneales/fisiopatología , Seudotumor Cerebral/etiología , Trombosis de los Senos Intracraneales/complicaciones , Cefalea de Tipo Tensional/etiología , Adulto , Presión del Líquido Cefalorraquídeo/fisiología , Senos Craneales/patología , Diagnóstico Diferencial , Femenino , Lateralidad Funcional/fisiología , Trastornos de Cefalalgia/etiología , Trastornos de Cefalalgia/patología , Trastornos de Cefalalgia/fisiopatología , Humanos , Angiografía por Resonancia Magnética/métodos , Masculino , Persona de Mediana Edad , Papiledema/fisiopatología , Flebografía/métodos , Valor Predictivo de las Pruebas , Estudios Prospectivos , Seudotumor Cerebral/patología , Seudotumor Cerebral/fisiopatología , Trombosis de los Senos Intracraneales/patología , Trombosis de los Senos Intracraneales/fisiopatología , Punción Espinal/normas , Cefalea de Tipo Tensional/patología , Cefalea de Tipo Tensional/fisiopatología
4.
J Neurol ; 255(1): 64-9, 2008 Jan.
Artículo en Inglés | MEDLINE | ID: mdl-18080853

RESUMEN

Hyperhomocysteinemia (HHcy) has been associated with cognitive impairment in various neurological diseases. Cognitive impairment occurs early in multiple sclerosis (MS). Conflicting data have been reported regarding plasma total homocysteine (tHcy) levels in MS patients, and the impact of HHcy on cognitive impairment in MS is not known. This study investigated whether plasma total homocysteine levels are increased in MS and if HHcy is associated with cognitive impairment in MS. We compared tHcy levels in 94 patients with MS and 53 healthy age-matched controls. We used a neuropsychological test battery that included the Raven's Coloured Progressive Matrices, the Visual Search Test, the Trail Making Test A and B, the Immediate and Delayed Recall of a Short Story, the 30 Paired Word Associates, the Rey-Osterrieth Complex Figure Test, and the Semantic and Verbal Fluency Tests. Clinical (sex, age, type of MS, relapse, disease duration, coexisting disease, smoking habit, and physical disability) and laboratory variables (HHcy, low serum levels of folate and vit.B12, MTHFR genotype) were evaluated for their ability to predict cognitive impairment. The mean tHcy was higher in patients (13.19 micromol/L, SD5.58) than in controls (9.81 micromol/L, SD2.53; p < 0.001). Univariate analysis determined the following factors to be associated with cognitive impairment: higher age at observation, chronic progressive course of disease, longer disease duration,moderate or severe physical disability, and frequency of HHcy. With multivariate regression analysis, there remained a significant association only between frequency of HHcy and cognitive impairment (beta 0.262, p = 0.01). We conclude that tHcy levels are increased in MS and that HHcy is associated with cognitive impairment in this disease.


Asunto(s)
Trastornos del Conocimiento/sangre , Trastornos del Conocimiento/etiología , Hiperhomocisteinemia/sangre , Hiperhomocisteinemia/complicaciones , Esclerosis Múltiple/sangre , Esclerosis Múltiple/complicaciones , Edad de Inicio , Encéfalo/metabolismo , Encéfalo/fisiopatología , Trastornos del Conocimiento/fisiopatología , Evaluación de la Discapacidad , Progresión de la Enfermedad , Ácido Fólico/sangre , Homocisteína/sangre , Hiperhomocisteinemia/fisiopatología , Esclerosis Múltiple/psicología , Análisis Multivariante , Pruebas Neuropsicológicas , Valor Predictivo de las Pruebas , Regulación hacia Arriba/fisiología , Deficiencia de Vitamina B 12/sangre , Deficiencia de Vitamina B 12/complicaciones , Deficiencia de Vitamina B 12/fisiopatología
5.
Neurology ; 67(3): 419-23, 2006 Aug 08.
Artículo en Inglés | MEDLINE | ID: mdl-16894101

RESUMEN

BACKGROUND: The headache profile of patients with idiopathic intracranial hypertension without papilledema (IIHWOP) may be indistinguishable from that of migraine. Bilateral transverse sinus stenosis (BTSS) has been found in the majority of patients with IIHWOP. The frequency of BTSS associated with IIHWOP in patients with migraine is unknown. OBJECTIVE: To detect the frequency of BTSS in adult patients with migraine and to investigate whether the presence of BTSS identifies patients with IIHWOP. METHODS: In a prospective study from December 2000 to November 2005, 724 consecutive patients with recurrent headaches who fulfilled International Headache Society diagnostic criteria for migraine underwent cerebral MR venography (MRV). A portion of these patients underwent a lumbar puncture (LP) to measure CSF pressure. MRV and LP were also performed in 70 age-matched control subjects. RESULTS: Six hundred seventy-five of the 724 patients with migraines had normal MRV. Seventy of these 675 patients underwent LP, and all of them had normal CSF pressure. Forty-nine (6.7%) of the 724 patients with migraine had BTSS. Twenty-eight of these 49 patients with BTSS underwent LP, and 19 (67.8%) had IIHWOP. The headache profiles of patients with BTSS and IIHWOP did not differ from those of patients with normal MRVs and CSF pressures within normal limits. CSF pressure was normal in both patients and controls with normal MRV. CONCLUSIONS: Of patients with migraine, 6.7% had bilateral transverse sinus stenosis; 67.8% of these patients had idiopathic intracranial hypertension without papilledema (IIHWOP). These results suggest that patients with migraine who present bilateral transverse sinus stenosis on cerebral MR venography should undergo lumbar puncture to exclude IIHWOP.


Asunto(s)
Constricción Patológica/complicaciones , Trastornos Migrañosos/complicaciones , Seudotumor Cerebral/etiología , Adulto , Femenino , Humanos , Masculino , Papiledema/etiología , Seudotumor Cerebral/diagnóstico
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