RESUMEN
INTRODUCTION: Transcranial Doppler is a method that enables the assessment of different cerebral hemodynamic parameters. It also allows for the evaluation of the presence of right-to-left circulation shunts (RLS) and for the detection of microembolic signals (MESs), which might be associated with an increased risk of cerebrovascular events. For instance, the presence of MESs on transcranial Doppler in patients with systemic lupus erythematous (SLE) and antiphospholipid syndrome (APS) is associated with an increased risk of stroke. Therefore, transcranial Doppler could be a useful tool for stroke risk stratification in these patients. OBJECTIVE: Our objective was to evaluate transcranial Doppler cerebral mean blood flow velocities as well as the presence of MESs and RLS in patients with antiphospholipid syndrome and SLE. PATIENTS AND METHODS: Twenty-two patients with primary APS (PAPS), 24 patients with secondary APS (SAPS), 27 patients with SLE without APS and 21 healthy controls were evaluated. Clinical and epidemiological data were compiled from medical charts, and all subjects underwent transcranial Doppler examination with breath-holding index calculation. Both middle cerebral arteries were monitored for 60 min for the detection of MESs. RLS was investigated with agitated saline injected as a bolus. RESULTS: There were no significant differences in mean blood flow velocities among the groups. MESs were more frequently found in patients with SLE when compared with controls and patients with APS (SLE: 17.4%, SAPS: 4.3%, PAPS: 0%, controls: 0%, p = 0.03). Anticoagulant therapy was more frequently used in the APS group (PAPS: 81.8%, SAPS: 75.2%, SLE: 1.7%, p < 0.001). Patients with APS had a higher frequency of RLS when compared with volunteers (63.6% versus 38.1%, p = 0.05). Breath-holding index values tended to be lower in patients with SAPS than in control subjects and patients with PAPS and SLE ( p = 0.06). CONCLUSIONS: Patients with APS had a higher frequency of RLS than healthy controls. This finding alerts to the importance of cardiac investigation in patients with stroke and APS, because further therapies such as RLS occlusion might eventually add protection. The higher frequency of MES in patients with SLE could suggest an effect of anticoagulant therapy on MES prevention, more frequently used in patients with APS.
Asunto(s)
Síndrome Antifosfolípido/complicaciones , Síndrome Antifosfolípido/diagnóstico por imagen , Lupus Eritematoso Sistémico/complicaciones , Lupus Eritematoso Sistémico/diagnóstico por imagen , Lupus Eritematoso Sistémico/fisiopatología , Ultrasonografía Doppler Transcraneal , Adulto , Síndrome Antifosfolípido/fisiopatología , Arterias/diagnóstico por imagen , Autoanticuerpos/análisis , Recuento de Células Sanguíneas , Pruebas de Coagulación Sanguínea , Velocidad del Flujo Sanguíneo , Encéfalo/irrigación sanguínea , Infarto Encefálico/etiología , Contencion de la Respiración , Circulación Cerebrovascular , Femenino , Humanos , Hipertensión/fisiopatología , Masculino , Persona de Mediana Edad , Riesgo , Factores de Riesgo , Estadísticas no Paramétricas , Trombosis/fisiopatologíaRESUMEN
BACKGROUND AND PURPOSE: SPAST mutations are the most common cause of hereditary spastic paraplegia (SPG4-HSP), which is characterized by progressive lower limb weakness, spasticity and hyperreflexia. There are few studies about non-motor manifestations in this disease and none about autonomic involvement. Therefore, the aim was to determine the frequency and pattern of autonomic complaints in patients with SPG4-HSP, as well as to determine the clinical relevance and the possible factors associated with these manifestations. METHODS: Thirty-four molecularly confirmed SPG4 patients were recruited in a multicenter cross-sectional study, of whom 26 underwent detailed neurophysiological testing (heart rate variability, sympathetic skin response and the Quantitative Sudomotor Axonal Reflex Test). The Scales for Outcomes in Parkinson's Disease - Autonomic Questionnaire (SCOPA-AUT) was applied to quantify the severity of autonomic symptoms. Results were compared with 44 age- and gender-matched healthy controls using non-parametric tests. P values <0.05 were considered significant. RESULTS: In the SPG4-HSP group, there were 18 men with a mean age of 47.7 ± 12.6 years. SCOPA-AUT scores were similar between patients and controls (P = 0.238). Only the urinary domain subscore was significantly higher amongst patients (4 vs. 2.5, P = 0.05). Absent sympathetic skin response in the hands and feet was more frequent amongst patients (20% vs. 0%, P < 0.001, and 64% vs. 0%, P = 0.006, respectively). Quantitative Sudomotor Axonal Reflex Test responses were also smaller throughout all recording regions in the SPG4-HSP group. CONCLUSION: Our results indicate that SPG4-HSP patients have sudomotor dysfunction caused by damaged small post-ganglionic cholinergic fibers. Damage in SPG4-HSP extends to the peripheral nervous system.
Asunto(s)
Sistema Nervioso Autónomo/fisiopatología , Mutación , Paraplejía/fisiopatología , Paraplejía Espástica Hereditaria/fisiopatología , Espastina/genética , Adenosina Trifosfatasas/genética , Adulto , Estudios Transversales , Femenino , Humanos , Masculino , Persona de Mediana Edad , Paraplejía/genética , Paraplejía Espástica Hereditaria/genéticaRESUMEN
Neurological involvement in antiphospholipid antibody syndrome (APS) is common, and its occurrence increases morbidity and mortality. Patients may present variable neurological involvement, such as cerebrovascular disease, cognitive dysfunction, headache, seizures, movement disorders, multiple sclerosis-like syndrome, transverse myelitis and ocular symptoms. Most neurological manifestations are associated with thrombosis of the microcirculation or of large vessels; nonetheless, there is compelling evidence suggesting that, in some cases, symptoms are secondary to an immune-mediated pathogenesis, with direct binding of aPL on neurons and glia. Herein we describe clinical characteristics and management of neurological APS manifestations.
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Síndrome Antifosfolípido/complicaciones , Encefalopatías/inmunología , Anticoagulantes/uso terapéutico , Encefalopatías/diagnóstico , Encefalopatías/tratamiento farmacológico , HumanosAsunto(s)
Cromosomas Humanos Par 8/genética , Exodesoxirribonucleasas/genética , Leucoaraiosis/genética , RecQ Helicasas/genética , Accidente Cerebrovascular/diagnóstico , Accidente Cerebrovascular/genética , Síndrome de Werner/diagnóstico , Síndrome de Werner/genética , Adulto , Infartos del Tronco Encefálico/diagnóstico , Infartos del Tronco Encefálico/genética , Aberraciones Cromosómicas , Consanguinidad , Reparación del ADN/genética , Diagnóstico Diferencial , Femenino , Genes Recesivos/genética , Humanos , Leucoaraiosis/diagnóstico , Accidente Vascular Cerebral Lacunar/diagnóstico , Accidente Vascular Cerebral Lacunar/genética , Helicasa del Síndrome de WernerRESUMEN
Olfactory dysfunction is a very common and early sign in neurodegenerative disorders, but few data are already available in hereditary ataxias. Our aim was to evaluate the sense of smell in patients with molecular-proven spinocerebellar ataxia type 3 (SCA3). Forty-one patients with SCA3 and 46 control subjects were studied. The sense of smell was tested using the Sniffin's Sticks (SS-16). We also evaluated Mini-Mental State Examination (MMSE) and non-cerebellar symptoms, such as parkinsonism, dystonia, and restless legs syndrome (RLS). The SCA3 group had significantly lower SS-16 scores than controls (11.5 ± 2.4 vs 12.8 ± 1.5, p = 0.003). Multiple linear regression analyses, controlling for age, sex, education, cigarette smoking, and MMSE scores, showed that SCA3 (p = 0.021), sex (p = 0.003) and MMSE scores (p = 0.002) had significant regression coefficients. All the variables taken together were significantly associated with the SS-16 scores (p ≤ 0.001). Although MMSE scores and female sex were stronger predictors of the SS-16 scores than SCA3, subjects with SCA3 had lower scores on the SS-16, regardless of sex or MMSE scores. Additionally, MMSE scores, sex and presence of RLS were the best predictors of SS-16 scores. Overall, our results strengthen that the sense of smell is significantly reduced in patients with SCA3 and that sex, MMSE scores and RLS also influence the SS-16 scores.
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Enfermedad de Machado-Joseph/complicaciones , Trastornos del Olfato/etiología , Olfato/fisiología , Adulto , Femenino , Humanos , Masculino , Escala del Estado Mental , Persona de Mediana Edad , Trastornos del Olfato/diagnóstico , Trastorno de la Conducta del Sueño REM/etiología , Análisis de RegresiónRESUMEN
Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) is a neurodegenerative disorder characterized by late-infantile onset spastic ataxia and other neurological features. ARSACS has a high prevalence in northeastern Quebec, Canada. Several ARSACS cases have been reported outside Canada in recent decades. This is the first report of typical clinical and neuroimaging features in a Brazilian family with probable diagnosis of ARSACS.
A ataxia espástica autossômica recessiva de Charlevoix-Saguenay (ARSACS) é doença degenerativa do sistema nervoso, caracterizada por ataxia associada a espasticidade, entre outras manifestações neurológicas, de início na infância. A doença tem alta prevalência na região de Quebec, no Canadá. Muitos relatos de ARSACS têm sido descritos fora do Canadá nas últimas décadas. Nesse artigo, relatamos a primeira descrição dos aspectos clínicos e de neuroimagem típicos em uma família brasileira com provável diagnóstico de ARSACS.
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Adulto , Femenino , Humanos , Masculino , Espasticidad Muscular/diagnóstico , Ataxias Espinocerebelosas/congénito , Amitriptilina/análogos & derivados , Amitriptilina/uso terapéutico , Baclofeno/uso terapéutico , Imagen por Resonancia Magnética , Relajantes Musculares Centrales/uso terapéutico , Espasticidad Muscular/tratamiento farmacológico , Linaje , Ataxias Espinocerebelosas/diagnóstico , Ataxias Espinocerebelosas/tratamiento farmacológicoRESUMEN
The objective of the present study was to determine whether brain single-photon emission computed tomography (SPECT) imaging is capable of detecting perfusional abnormalities. Ten Sydenham's chorea (SC) patients, eight females and two males, 8 to 25 years of age (mean 13.4), with a clinical diagnosis of SC were submitted to brain SPECT imaging. We used HMPAO labeled with technetium-99m at a dose of 740 MBq. Six examinations revealed hyperperfusion of the basal ganglia, while the remaining four were normal. The six patients with abnormal results were females and their data were not correlated with severity of symptoms. Patients with abnormal brain SPECT had a more recent onset of symptoms (mean of 49 days) compared to those with normal SPECT (mean of 85 days) but this difference did not reach statistical significance. Brain SPECT can be a helpful method to determine abnormalities of the basal ganglia in SC patients but further studies on a larger number of patients are needed in order to detect the phase of the disease during which the examination is more sensitive.
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Encéfalo/diagnóstico por imagen , Corea/diagnóstico por imagen , Adolescente , Adulto , Ganglios Basales/diagnóstico por imagen , Niño , Femenino , Estudios de Seguimiento , Humanos , Masculino , Flujo Pulsátil , Tomografía Computarizada de Emisión de Fotón ÚnicoRESUMEN
The objective of the present study was to determine whether brain single-photon emission computed tomography (SPECT) imaging is capable of detecting perfusional abnormalities. Ten Sydenham's chorea (SC) patients, eight females and two males, 8 to 25 years of age (mean 13.4), with a clinical diagnosis of SC were submitted to brain SPECT imaging. We used HMPAO labeled with technetium-99m at a dose of 740 MBq. Six examinations revealed hyperperfusion of the basal ganglia, while the remaining four were normal. The six patients with abnormal results were females and their data were not correlated with severity of symptoms. Patients with abnormal brain SPECT had a more recent onset of symptoms (mean of 49 days) compared to those with normal SPECT (mean of 85 days) but this difference did not reach statistical significance. Brain SPECT can be a helpful method to determine abnormalities of the basal ganglia in SC patients but further studies on a larger number of patients are needed in order to detect the phase of the disease during which the examination is more sensitive
Asunto(s)
Humanos , Masculino , Femenino , Niño , Adolescente , Adulto , Encéfalo , Corea , Ganglios Basales , Estudios de Seguimiento , Flujo Pulsátil , Tomografía Computarizada de Emisión de Fotón ÚnicoRESUMEN
Median nerve SEPs recorded from a patient with a high medullary lesion are described. The lesion involved the anteromedial and anterolateral right upper third of the medulla, as documented by MRI. Forty one days after the lesion, left median nerve SEP showed preserved N18 and absent P14 and N20 components; stimulation of the right median nerve evoked normal responses. These findings agree with the proposition that low medullary levels are involved in the generation of the N18 component of the median nerve SEP.
Asunto(s)
Potenciales Evocados Somatosensoriales , Nervio Mediano/fisiopatología , Bulbo Raquídeo/lesiones , Adulto , Humanos , Imagen por Resonancia Magnética , MasculinoRESUMEN
Median nerve SEPs recorded from patient with a high medullary lesion are described. The lesion involved the anteromedial and anterolateral right upper third of the medulla, as documented by MRI. Forty one days after the lesion, left median nerve SEP showed preserved N18 and absent P14 and N20 components; stimulation of the right median nerve evoked normal responses. These findings agree with the proposition that low medullary levels are involved in the generation of the N18 component of the median nerve SEP.
Asunto(s)
Humanos , Masculino , Adulto , Potenciales Evocados Somatosensoriales , Nervio Mediano , Bulbo Raquídeo/lesiones , Imagen por Resonancia Magnética , Nervio Mediano/fisiologíaRESUMEN
We describe the case of a 28-year-old man with a giant congenital melanocytic nevus (GCMN) with malignant transformation to melanoma and metastasis on the central nervous system (CNS). We also make a summary of the pathological features from both lesions (GCMN and Melanoma), the occurrence of malignancy of GCMN, the organs more frequently involved with metastatic melanoma--with emphasis to involvement of CNS--just as the factors that cause malignant transformation of GCMN; the methods to diagnose metastases in CNS--emphasizing the importance of cerebrospinal fluid--and some therapeutical modalities for the metastatic melanoma in CNS.