This is the first study in South America that estimates the incidence of PD. Our results are consistent with other studies from other regions using similar methodologies.
Purpose The use of susceptibility weighted imaging in high field magnetic resonance imaging scanners can detect the nigrosome-1 area located in the caudo-lateral region of the pars compacta in the substantia nigra. This structure comprises a significant amount of dopaminergic neurons and degenerates in the early stages of Parkinson’s disease. Essential tremor is a neurological condition that in some cases could be confused with the early stages of Parkinson’s disease with a possible error in clinical diagnosis. Our purpose is to evaluate the accuracy of nigrosome-1 detection by high resolution magnetic resonance imaging to discriminate Parkinson’s disease from essential tremor. Methods A case–control study compared patients with a clinical diagnosis of Parkinson’s disease and essential tremor. Magnetic resonance imaging studies were performed using a 3T magnetic resonance imaging scanner. The susceptibility weighted imaging sequence was obtained in the axial plane with an isotropic voxel of 0.75 mm. Two independent neuroradiologists evaluated the images without access to clinical patient data. Results Sixteen patients were included in each group (Parkinson’s disease and essential tremor). Average age: Parkinson’s disease group: 71.3 (SD 6.3) and essential tremor group: 68.3 (SD 12.3). For the first evaluator, the nigrosome-1 area was absent in 15 patients with Parkinson’s disease and in two with essential tremor and for the second evaluator was absent in 15 patients with Parkinson’s disease and four with essential tremor. The sensitivity/specificity for the diagnosis of Parkinson’s disease was 93.75%/87.5% for the first evaluator and 93.75%/75% for the second evaluator. Conclusion The detection of the nigrosome-1 area is a useful tool in the differential diagnosis between Parkinson’s disease and essential tremor, with high sensitivity and specificity.
BackgroundAround 47–74% of patients with hereditary hemorrhagic telangiectasia (HHT) have hepatic vascular malformations (HVMs); magnetic resonance images (MRI) of the central nervous system (CNS) might show in T1 sequences a hyper-intensity signal in different areas, mainly in the basal ganglia (BG) as consequence of manganese (Mn) deposits as observed in cirrhotic patients. These patients might suffer from different neuropsychiatric disorders (hepatic encephalopathy). In HHT patients, even in the presence of hepatic shunts, hepatocellular function is usually preserved. Additionally, Mn shares iron absorption mechanisms, transferrin and CNS transferrin receptors. In iron deficiency conditions, the Mn may harbor transferrin and access BG. The objectives were to describe frequency of BG Mn deposit-induced lesions (BGMnIL) in HHT patients, its relationship with iron deficiency anemia (IDA) and HVMs. Finally, explore the association between neuropsychological and motor consequences. We performed a cross-sectional study. We determined HHT patients with or without BG-MnIL by the MRI screening of the CNS. We included all patients with lesions and a random sample of those without lesions. All patients underwent standardized and validated neuropsychological assessment to evaluate BG actions. Results were analyzed with multiple logistic regression, adjusting for potential confounders.ResultsAmong 307 participants from a cohort included in the Institutional HHT Registry, 179 patients had MRI performed and Curaçao Criteria ≥3. The prevalence of BG-MnIL was 34.6% (95%CI 27.69-42.09). While neuropsychological symptoms were present in all patients, BG-MnIL patients performed poorly in three of the neuropsychological tests (serial dotting, line tracing time, number connection test A). HVMs frequency in BG-MnIL was 95.1%, versus 71.4% in those without lesions (p < 0.001). IDA frequency was 90.3% versus 54% (p < 0.001). When IDA is present, estimated risk for BG-MnIL is remarkably high (OR 7.73, 95%CI 2.23–26.73). After adjustment for possible confounders (gender, age, presence of HVMs), IDA was still associated with increased risk of BG-MnIL (adjusted OR 6.32, 95% CI 2.32–17.20; p < 0.001).ConclusionsPhysicians should assess BG-MnIL in HHT patients in CNS-MRI. IDA and HVMs present increased risk of lesions. Patients with BG-MnIL have neuropsychological impairment, and they might benefit from sparing IDA, or undergoing future therapeutic options.Trial registration NCT01761981. Registered January 3rd 2013.Electronic supplementary materialThe online version of this article (doi:10.1186/s13023-017-0632-2) contains supplementary material, which is available to authorized users.
c r ova s c u l a t u ra de la retina.El desenlace principal fue la incidencia de ACV clínico, luego de un seguimiento medio de 4,7 años, de acuerdo a la presencia o ausencia de LSBC y retinopatía. S e r e p o rta el análisis mu l t i va riado*, ajustado por edad, sex o, raza y factores de riesgo va s c u l a r.
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