Comparison of Transcranial Sonography and [ 18 F ]‐Fluorodopa PET Imaging in GBA1 Mutation Carriers

2021 ◽  
Author(s):  
Daniel P. Eisenberg ◽  
Grisel Lopez ◽  
Michael D. Gregory ◽  
Karen F. Berman ◽  
Ellen Sidransky
Keyword(s):  
Pet Imaging ◽  
Transcranial Sonography ◽  
Mutation Carriers

scholarly journals Transcranial sonography in carriers of Gaucher disease

2019 ◽  
Author(s):  
Fatemeh Omrani ◽  
Shahla Ansari-Damavandi ◽  
Babak Zamani ◽  
Zahra Omrani ◽  
Nahid Mohammadzade ◽  
...  
Keyword(s):  
Genetic Risk ◽  
Gaucher Disease ◽  
Demographic Data ◽  
Third Ventricle ◽  
Transcranial Sonography ◽  
Healthy Controls ◽  
Mutation Carriers ◽  
Genetic Status ◽  
Mini Mental Status Examination ◽  
Mental Status Examination

Background: Glucocerebrosidase (GBA) mutation is the most common genetic risk factor in Parkinson’s disease (PD). Transcranial sonography (TCS) shows increased substantia nigra (SN) echogenicity in both idiopathic and genetic forms of PD. The goal of this study was to compare maximal area of SN hyperechogenicity (aSNmax) and diameter of third ventricle (DTV) between GBA mutation carriers and healthy controls. Methods: Twenty-six carriers of GBA mutation and twenty-six healthy controls underwent TCS. The aSNmax and the DTV were measured. Mini-mental status examination (MMSE) and demographic data of the subjects were recorded, too. Results: Mean aSNmax in GBA mutation carriers was significantly higher (0.31 ± 0.06 cm2) than controls (0.16 ± 0.04 cm2). Moreover, DTV was significantly higher in GBA mutation carriers group (3.98 ± 0.90 vs 3.29 ± 0.56 cm). Conclusion: Increased SN echogenicity and increased third ventricle diameter in GBA mutation carriers may be caused by alterations in iron metabolism with reference to their genetic status.

scholarly journals 18F-APN-1607 Tau PET in Progressive Supranuclear Palsy-Like Symptoms Caused by TBK1 Mutations

2021 ◽  
Author(s):  
Feng-tao Liu ◽  
Jia-Ying Lu ◽  
Yi-Min Sun ◽  
Yu-Jie Yang ◽  
Kai Qiao ◽  
...  
Keyword(s):  
Progressive Supranuclear Palsy ◽  
Pet Imaging ◽  
Structural Changes ◽  
Extrapyramidal Symptoms ◽  
Imaging Findings ◽  
Behavioral Alterations ◽  
Mutation Carriers ◽  
Tau Pet ◽  
Tau Pet Imaging ◽  
Dopaminergic Degeneration

Abstract Background Pathogenic mutations in the TANK-binding kinase 1 (TBK1) gene have been associated with progressive supranuclear palsy (PSP)-like extrapyramidal symptoms, amyotrophic lateral sclerosis (ALS), as well as cognitive and behavioral alterations. However, the question as to whether TBK1 mutations may be associated with tau burden remains unanswered. Methods To investigate whether patients presenting with PSP-like extrapyramidal symptoms caused by TBK1 mutations have evidence of tau deposition as reflected by positive 18F-APN-1607 tau PET imaging findings. Four patients who showed PSP-like extrapyramidal symptoms, ALS, and cognitive/behavioral alterations were consecutively enrolled between August 2019 and August 2020. Patients underwent TBK1 gene sequencing and 18F-APN-1607 tau PET imaging. All PET images were interpreted in a blinded fashion with respect to genetic results. Brain structural changes were investigated with MRI, whereas 11C-CFT or 18F-DTBZ PET imaging was performed to identify dopaminergic degeneration. Results Pathogenic TBK1 mutations were identified in three of the four study patients. The three mutation carriers – but not the case without – showed positive 18F-APN-1607 binding in PSP-related regions, suggesting the presence of tau pathology. Mesencephalic atrophy (hummingbird sign) was observed in all TBK1 mutation carriers, and two of them also had evidence of frontotemporal atrophy. Dopaminergic degeneration was evident in all cases, regardless of TBK1 mutations. Conclusions Pathogenic TBK1 mutations in patients with PSP-like extrapyramidal symptoms are associated with positive 18F-APN-1607 tau PET imaging findings. Our data should prompt additional investigations on the potential role of tau accumulation in the pathogenesis of disease conditions associated with TBK1 mutations.

Alterations in regional decreased cerebral blood flow in patients with irritable bowel syndrome-A PET imaging study

2001 ◽  
Vol 120 (5) ◽  
pp. A637-A637
Author(s):  
Y RINGEL ◽  
D DROSSMAN ◽  
T TURKINGTON ◽  
B BRADSHAW ◽  
R COLEMAN ◽  
...  
Keyword(s):  
Blood Flow ◽  
Irritable Bowel Syndrome ◽  
Cerebral Blood Flow ◽  
Pet Imaging ◽  
Imaging Study ◽  
Irritable Bowel

Detection method and stage in BRCA1/2 mutation carriers

2002 ◽  
Vol 38 (11) ◽  
pp. S163
Author(s):  
R Kaas
Keyword(s):  
Detection Method ◽  
Mutation Carriers

CB1 Receptor Pet Imaging Reveals Abnormal Endocannabinoid Signaling in PTSD

2012 ◽  
Author(s):  
Alexander Neumeister ◽  
Sean Sobin
Keyword(s):  
Pet Imaging ◽  
Cb1 Receptor

PET imaging of 5-HT1A receptors in late-life depression: Relationship to treatment response

2005 ◽  
Vol 25 (1_suppl) ◽  
pp. S323-S323
Author(s):  
Carolyn C Meltzer ◽  
Julie C Price ◽  
Scott K Ziolko ◽  
Chester A Mathis ◽  
Lisa A Weissfeld ◽  
...  
Keyword(s):  
Treatment Response ◽  
Pet Imaging ◽  
Late Life ◽  
Late Life Depression

68Ga-PSMA Uptake in Pulmonary Tuberculosis: A Pitfall in Prostate Cancer PET Imaging

2020 ◽  
Author(s):  
Huijuan Liu ◽  
Yuhong Liu ◽  
Yue Chen ◽  
Huipan Liu
Keyword(s):  
Prostate Cancer ◽  
Pulmonary Tuberculosis ◽  
Pet Imaging
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