Journal of neuroimaging : official journal of the American Society of Neuroimaging
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Mitochondrial disorders represent a diverse and complex group of entities typified by defective energy metabolism. The mitochondrial oxidative phosphorylation system is typically impaired, which is the predominant source of energy production. Because mitochondria are present in nearly all organs, multiple systems may be affected including the central nervous system, skeletal muscles, kidneys, and liver. ⋯ In the current manuscript, basic concepts of energy production, genetics, and inheritance patterns are reviewed. In addition, the imaging findings of several illustrative mitochondrial disorders are presented to familiarize the involved physicians with pediatric mitochondrial disorders. In addition, the significance of spinal cord imaging and the value of "reversed image-based discovery" for the recognition and correct (re-)classification of mitochondrial disorders is discussed.
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Reversible cerebral vasoconstriction syndrome (RCVS) is a syndrome characterized by reversible segmental vasoconstriction of cerebral arteries. Digital subtraction and noninvasive angiograms are typically used to detect vasospasm; however, due to the dynamic nature of RCVS these tests are often negative initially and may need to be repeated multiple times. Transcranial Doppler (TCD) offers many advantages as it is a noninvasive and nonradiating modality. Studies investigating its diagnostic utility for capturing vasospasm and studying temporal evolution of RCVS are limited. ⋯ In this case series, we found TCD to be useful in detecting vasospasm and monitoring the temporal evolution of RCVS. TCD could be a helpful clinical tool to diagnose and monitor RCVS.
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Pulsatile tinnitus (PT) is the subjective sensation of a pulse-synchronous sound, most often due to a cerebrovascular etiology. PT can severely impact quality of life and may indicate a life-threatening process, yet a timely and accurate diagnosis can often lead to effective treatment. Clinical assessment with a history and physical examination can often suggest a diagnosis for PT, but is rarely definitive. Therefore, PT should be evaluated with a comprehensive and targeted radiographic imaging protocol. MR imaging provides a safe and effective means to evaluate PT. Specific MR sequences may be used to highlight different elements of cerebrovascular anatomy and physiology. However, routine MR evaluation of PT must comply with economic and practical constraints, while effectively capturing both common and rarer, life-threatening etiologies of PT. ⋯ We describe the physiologic and clinical rationale for including each MR sequence in a comprehensive PT imaging protocol, and detail the role of MR within the broader evaluation of PT, from clinical presentation to treatment.
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The aim of this study is to determine whether cerebral white matter (WM) microstructural damage, defined by decreased fractional anisotropy (FA) and increased axial (AD) and radial (RD) diffusivities, could be detected as accurately by measuring the T1/T2 ratio, in relapsing-remitting multiple sclerosis (RRMS) patients compared to healthy control (HC) subjects. ⋯ Results showed significant differences between RRMS and HC in both DTI and T1/T2 ratio measurements. T1/T2 ratio even demonstrated extensive WM abnormalities when compared to DTI, thereby highlighting the ratio's sensitivity to subtle differences in cerebral WM structural integrity using only conventional MRI sequences.
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Excessive brain iron deposition is involved in Parkinson's disease (PD) pathogenesis. However, the correlation of iron accumulation in various brain nuclei is not well-established in different stages of the disease. This cross-sectional study aims to evaluate quantitative susceptibility mapping (QSM) as an imaging technique to measure brain iron accumulation in PD patients in different stages compared to healthy controls. ⋯ Our data suggest iron accumulation occurs early in the disease course and only in the SN and RN of these patients. This is a large cross-sectional study of brain iron deposition in PD patients according to H&Y staging. Prospective studies are warranted to further validate QSM as a method to follow brain iron, which could serve as a disease biomarker and a therapeutic target.