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https://www.readbyqxmd.com/read/28935882/clinical-and-radiological-diversity-in-genetically-confirmed-primary-familial-brain-calcification
#1
Shingo Koyama, Hidenori Sato, Ryota Kobayashi, Shinobu Kawakatsu, Masayuki Kurimura, Manabu Wada, Toru Kawanami, Takeo Kato
Primary familial brain calcification (PFBC) is a rare neuropsychiatric disorder with characteristic symmetrical brain calcifications. Patients with PFBC may have a variety of symptoms, although they also may be clinically asymptomatic. Parkinsonism is one of the most common movement disorders; however, the underlying mechanism remains unclear. This condition is typically transmitted in an autosomal dominant fashion. To date, mutations in SLC20A2, PDGFRB, PDGFB, and XPR1 have been reported to cause PFBC. The aim of the study was to identify the genetic cause of brain calcification in probands from three PFBC families and in 8 sporadic patients and to perform clinical and radiological assessments focusing on parkinsonism in mutation carriers...
September 21, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28923025/intrafamilial-phenotypic-heterogeneity-in-a-taiwanese-family-with-a-mapt-p-r5h-mutation-a-case-report-and-literature-review
#2
Hui-Chi Lin, Chin-Hsien Lin, Pei-Lung Chen, Shih-Jung Cheng, Pei-Hao Chen
BACKGROUND: Frontotemporal degeneration (FTD) is a clinically and genetically heterogeneous neurodegenerative disorder characterized by deficits in executive function that frequently overlaps with parkinsonism and motor neuron disorders. Several genes have been identified to cause autosomal dominant forms of FTD, including the gene coding for the protein associated with microtubule tau (MAPT). While most reported pathogenic mutations in MAPT occur in exons 9-13, few families have been reported with mutations outside of this region...
September 18, 2017: BMC Neurology
https://www.readbyqxmd.com/read/28922189/acr-acnm-practice-parameter-for-the-performance-of-dopamine-transporter-dat-single-photon-emission-computed-tomography-spect-imaging-for-movement-disorders
#3
Rathan M Subramaniam, Kirk A Frey, Christopher H Hunt, Gustavo A Mercier, Lilja B Solnes, Patrick M Colletti, Yang Lu, Bital Savir-Baruch, Hadyn T Williams
This American College of Radiology and American College of Nuclear Medicine joint clinical practice parameter is for performance of dopamine transporter single photon emission computed tomography (SPECT) imaging, for patients with movement disorders. Parkinsonian syndrome (PS) consists of a group of neurodegenerative diseases including Parkinson disease (PD), progressive supranuclear palsy (PSP), multiple system atrophy (MSA), corticobasal degeneration (CBD), and dementia with Lewy bodies (DLB). Accurate diagnosis of PS is critical for clinical management...
September 15, 2017: Clinical Nuclear Medicine
https://www.readbyqxmd.com/read/28904985/cholinergic-activity-and-levodopa-induced-dyskinesia-a-multitracer-molecular-imaging-study
#4
Joachim Brumberg, Sebastian Küsters, Ehab Al-Momani, Giorgio Marotta, Kelly P Cosgrove, Christopher H van Dyck, Ken Herrmann, György A Homola, Gianni Pezzoli, Andreas K Buck, Jens Volkmann, Samuel Samnick, Ioannis U Isaias
OBJECTIVE: To investigate the association between levodopa-induced dyskinesias and striatal cholinergic activity in patients with Parkinson's disease. METHODS: This study included 13 Parkinson's disease patients with peak-of-dose levodopa-induced dyskinesias, 12 nondyskinetic patients, and 12 healthy controls. Participants underwent 5-[(123)I]iodo-3-[2(S)-2-azetidinylmethoxy]pyridine single-photon emission computed tomography, a marker of nicotinic acetylcholine receptors, [(123)I]N-ω-fluoropropyl-2β-carbomethoxy-3β-(4-iodophenyl)nortropane single-photon emission computed tomography, to measure dopamine reuptake transporter density and 2-[(18)F]fluoro-2-deoxyglucose positron emission tomography to assess regional cerebral metabolic activity...
September 2017: Annals of Clinical and Translational Neurology
https://www.readbyqxmd.com/read/28890043/a-migration-case-of-kii-amyotrophic-lateral-sclerosis-parkinsonism-dementia-complex-with-the-shortest-stay-in-the-endemic-area-and-the-longest-incubation-to-develop-the-disease
#5
Keiichiro Tsunoda, Toru Yamashita, Hitoshi Shimada, Emi Nomura, Yoshiaki Takahashi, Jingwei Shang, Kota Sato, Mami Takemoto, Nozomi Hishikawa, Yasuyuki Ohta, Makoto Higuchi, Tetsuya Suhara, Yasumasa Kokubo, Shigeki Kuzuhara, Koji Abe
Amyotrophic lateral sclerosis/parkinsonism dementia complex (ALS/PDC) is an endemic disease observed in the Kii peninsula, Guam, and Papua. We report a case of a 76-year old man with ALS/PDC of the Kii peninsula of Japan (Kii ALS/PDC). The patient was born and grew up in the Kii peninsula. He moved out at age three, and developed symptoms 73years later. He showed pyramidal sign, parkinsonian symptoms, and mildly impaired cognitive function. (131)I-metaiodobenzylguanidine myocardial scintigraphy showed decreased cardiac sympathetic nerve function, and dopamine transporter single photon emission computed tomography imaging showed decreased (123)I-N-ω-fluoropropyl-2β-carbomethoxy3β-(4-iodophenyl) nortropane accumulation...
September 7, 2017: Journal of Clinical Neuroscience: Official Journal of the Neurosurgical Society of Australasia
https://www.readbyqxmd.com/read/28856542/imaging-behavioural-complications-of-parkinson-s-disease
#6
Mikaeel Valli, Alexander Mihaescu, Antonio P Strafella
In addition to motor symptoms, behavioural complications are commonly found in patients with Parkinson's disease (PD). Behavioural complications, including depression, anxiety, apathy, impulse control disorder and psychosis, together have a large impact on PD patient's quality of life. Many neuroimaging studies using PET, SPECT and MRI techniques have been conducted to study the underlying neural mechanisms of PD pathogenesis and pathophysiology in relation to its behavioural complications. This review will survey these PET, SPECT and MRI studies to describe the current understanding of the neuro-chemical, functional and structural changes associated with behavioural complications in PD patients...
August 30, 2017: Brain Imaging and Behavior
https://www.readbyqxmd.com/read/28844804/dat-spect-may-have-diagnostic-value-in-prodromal-sca2-patients-with-parkinsonism
#7
Noriyuki Miyaue, Satoshi Tada, Rina Ando, Hirotaka Iwaki, Hayato Yabe, Noriko Nishikawa, Masahiro Nagai, Hiroshi Takashima, Masahiro Nomoto
INTRODUCTION: Although spinocerebellar ataxia type 2 (SCA2) is classified as hereditary spinocerebellar degeneration, some patients present with parkinsonism before developing cerebellar ataxia. METHODS: (123)I-metaiodobenzyl guanidine ((123)I-MIBG) myocardial scintigraphy and/or dopamine transporter single photon emission computed tomography (DAT SPECT) using (123)I-ioflupane ((123)I-FP-CIT) were performed for the six patients from three SCA2 families. RESULTS: (123)I-MIBG myocardial scintigraphy showed reduced cardiac uptake in four of five patients and an association with Lewy body disease was suggested...
August 14, 2017: Parkinsonism & related Disorders
https://www.readbyqxmd.com/read/28841694/differential-diagnosis-between-parkinson-s-disease-and-essential-tremor-using-the-smartphone-s-accelerometer
#8
Sergi Barrantes, Antonio J Sánchez Egea, Hernán A González Rojas, Maria J Martí, Yaroslau Compta, Francesc Valldeoriola, Ester Simo Mezquita, Eduard Tolosa, Josep Valls-Solè
BACKGROUND: The differential diagnosis between patients with essential tremor (ET) and those with Parkinson's disease (PD) whose main manifestation is tremor may be difficult unless using complex neuroimaging techniques such as 123I-FP-CIT SPECT. We considered that using smartphone's accelerometer to stablish a diagnostic test based on time-frequency differences between PD an ET could support the clinical diagnosis. METHODS: The study was carried out in 17 patients with PD, 16 patients with ET, 12 healthy volunteers and 7 patients with tremor of undecided diagnosis (TUD), who were re-evaluated one year after the first visit to reach the definite diagnosis...
2017: PloS One
https://www.readbyqxmd.com/read/28834102/ventral-striatal-dopaminergic-defect-is-associated-with-hallucinations-in-parkinson-s-disease
#9
E Jaakkola, J Joutsa, E Mäkinen, J Johansson, V Kaasinen
BACKGROUND AND PURPOSE: Visual hallucinations (VHs) are a common complication of Parkinson's disease (PD). The pathogenesis of VHs in PD is still largely unclear. The aim of this study was to investigate the dopaminergic mechanisms of VHs and specifically whether the degree of striatal dopamine transporter (DAT) function or extrastriatal serotonin transporter (SERT) function can predict the appearance of VHs in patients with PD. METHODS: Twenty-two PD patients scanned with [(123) I]FP-CIT single photon emission computed tomography at an early stage of their disease who later developed VHs were identified and compared with 48 non-hallucinating PD patients...
August 22, 2017: European Journal of Neurology: the Official Journal of the European Federation of Neurological Societies
https://www.readbyqxmd.com/read/28833467/dopamine-transporter-imaging-deficit-predicts-early-transition-to-synucleinopathy-in-idiopathic-rem-sleep-behavior-disorder
#10
Alex Iranzo, Joan Santamaría, Francesc Valldeoriola, Monica Serradell, Manel Salamero, Carles Gaig, Aida Niñerola-Baizan, Raquel Sánchez-Valle, Albert Lladó, Roberto De Marzi, Ambra Stefani, Klaus Seppi, Javier Pavia, Birgit Högl, Werner Poewe, Eduard Tolosa, Francesc Lomeña
OBJECTIVE: To determine the usefulness of dopamine transporter (DAT) imaging to identify idiopathic REM sleep behavior disorder (IRBD) patients at risk for short-term development of clinically-defined synucleinopathy. METHODS: Eighty-seven patients with polysomnography-confirmed IRBD underwent (123) I-FP-CIT DAT-SPECT. Results were compared with 20 matched controls without RBD who underwent DAT-SPECT. In patients, FP-CIT uptake was considered abnormal when values were two standard deviations below controls' mean uptake...
August 22, 2017: Annals of Neurology
https://www.readbyqxmd.com/read/28805579/nonmotor-manifestations-of-wilson-s-disease
#11
Samar Biswas, Neelanjana Paul, Shyamal K Das
Wilson disease (WD) is an autosomal genetic disorder characterized by excessive copper deposition initially in liver (hepatic variant) followed by brain (neuropsychiatric variant) and other organs such as cornea and kidney due to defect in biliary copper excretion. Predominant presentations of neuropsychiatric variant are extrapyramidal motor dysfunctions such as dystonias, Parkinsonism, choreoathetosis, tremor, and ataxias. Nonmotor symptoms (NMS) can appear before clinical disease expression and during ongoing disease process...
2017: International Review of Neurobiology
https://www.readbyqxmd.com/read/28802921/imaging-the-nonmotor-symptoms-in-parkinson-s-disease
#12
Tayyabah Yousaf, Heather Wilson, Marios Politis
Parkinson's disease is acknowledged to be a multisystem syndrome, manifesting as a result of multineuropeptide dysfunction, including dopaminergic, cholinergic, serotonergic, and noradrenergic deficits. This multisystem disorder ultimately leads to the presentation of a range of nonmotor symptoms, now appreciated to be an integral part of the disease-specific spectrum of symptoms, often preceding the diagnosis of motor Parkinson's disease. In this chapter, we review the dopaminergic and nondopaminergic basis of these symptoms by exploring the neuroimaging evidence based on several techniques including positron emission tomography, single-photon emission computed tomography molecular imaging, magnetic resonance imaging, functional magnetic resonance imaging, and diffusion tensor imaging...
2017: International Review of Neurobiology
https://www.readbyqxmd.com/read/28781201/seven-tesla-mri-of-the-substantia-nigra-in-patients-with-rapid-eye-movement-sleep-behavior-disorder
#13
Daniela Frosini, Mirco Cosottini, Graziella Donatelli, Mauro Costagli, Laura Biagi, Claudio Pacchetti, Michele Terzaghi, Pietro Cortelli, Dario Arnaldi, Enrica Bonanni, Michela Tosetti, Ubaldo Bonuccelli, Roberto Ceravolo
INTRODUCTION: Susceptibility-weighted imaging of the substantia nigra (SN) both at 7 and 3 Tesla (T) has shown high accuracy in distinguishing patients with Parkinson's disease (PD) and healthy subjects (HS). Patients with rapid eye movement (REM) behavior disorder (RBD) can develop synucleinopathies, and such risk is higher with dopamine transporter single photon emission tomography (123I-FP-CIT SPECT) evidence of nigro-striatal dysfunction. We aimed at evaluating SN 7T magnetic resonance imaging (7T-MRI) in patients with RBD and determining the agreement between MRI and 123I-FP-CIT SPECT...
August 2, 2017: Parkinsonism & related Disorders
https://www.readbyqxmd.com/read/28774469/thalamic-neurometabolic-alterations-in-tremulous-parkinson-s-disease-a-preliminary-proton-mr-spectroscopy-study
#14
Gaetano Barbagallo, Gennarina Arabia, Maurizio Morelli, Rita Nisticò, Fabiana Novellino, Maria Salsone, Federico Rocca, Andrea Quattrone, Manuela Caracciolo, Umberto Sabatini, Andrea Cherubini, Aldo Quattrone
INTRODUCTION: The objective of this study was to investigate the thalamic biochemical changes in tremor-dominant Parkinson's disease (tPD) patients in comparison with essential tremor with resting tremor (rET) patients, by using proton MR spectroscopy ((1)H-MRS). METHODS: Fourteen tPD patients, 12 rET patients and 10 controls participated in this study. All patients underwent dopamine transporter single-photon emission computed tomography (DAT-SPECT) with (123)I-ioflupane, and a short-echo single-voxel (1)H-MRS on a 3T scanner...
July 28, 2017: Parkinsonism & related Disorders
https://www.readbyqxmd.com/read/28769862/correlation-between-dopamine-transporter-degradation-and-striatocortical-network-alteration-in-parkinson-s-disease
#15
Wei-Che Lin, Hsiu-Ling Chen, Tun-Wei Hsu, Chien-Chin Hsu, Yung-Cheng Huang, Nai-Wen Tsai, Cheng-Hsien Lu
The association between dopamine neuron loss and functional change in the striatocortical network was analyzed in 31 patients with Parkinson's disease (PD) [mean disease duration 4.03 ± 4.20 years; Hoehn and Yahr (HY) stage 2.2 ± 1.2] and 37 age-matched normal control subjects. We performed (99m)Tc-TRODAT-1 SPECT/CT imaging to detect neuron losses and resting-state functional magnetic resonance imaging to detect functional changes. Mean striatal dopamine transporter binding ratios were determined by region of interest analysis...
2017: Frontiers in Neurology
https://www.readbyqxmd.com/read/28755084/design-and-evaluation-of-two-multi-pinhole-collimators-for-brain-spect
#16
Ling Chen, Benjamin M W Tsui, Greta S P Mok
OBJECTIVE: SPECT is a powerful tool for diagnosing or staging brain diseases such as Alzheimer's disease (AD) and Parkinson's disease (PD) but is limited by its inferior resolution and sensitivity. At the same time, pinhole SPECT provides superior resolution and detection efficiency trade-off as compared to the conventional parallel-hole collimator for imaging small field-of-view (FOV), which fits for the case of brain imaging. In this study, we propose to develop and evaluate two multi-pinhole (MPH) collimator designs to improve the imaging of cerebral blood flow and striatum...
July 28, 2017: Annals of Nuclear Medicine
https://www.readbyqxmd.com/read/28747279/portable-objective-assessment-of-upper-extremity-motor-function-in-parkinson-s-disease
#17
L M Chahine, L Uribe, P Hogarth, J McNames, A Siderowf, K Marek, D Jennings
INTRODUCTION: Objective, portable measures of motor function for out-of-office assessments are needed in Parkinson's Disease (PD). This study had 3 objectives. First, to examine change in objective motor measurements in PD (as assessed with the Objective PD Measurement (OPDM) system). Second, to correlate objective measures with clinical features and putative PD cerebrospinal fluid (CSF) and dopaminergic imaging biomarkers. Third, to assess participant compliance with and perceptions of serial in-home motor assessments...
July 19, 2017: Parkinsonism & related Disorders
https://www.readbyqxmd.com/read/28743197/evaluation-of-parkinson-s-disease-by-neuromelanin-sensitive-magnetic-resonance-imaging-and-123-i-fp-cit-spect
#18
Keita Kuya, Toshihide Ogawa, Yuki Shinohara, Mana Ishibashi, Shinya Fujii, Naoko Mukuda, Yoshio Tanabe
Background Both neuromelanin-sensitive magnetic resonance imaging (NmMRI) and (123)I-FP-CIT single photon emission computed tomography (SPECT) (DaTSCAN) assist the diagnosis of Parkinson's disease (PD). However, there have been few studies investigating a correlation between them. Purpose To correlate the utility of NmMRI and DaTSCAN and to evaluate the relationship between both imaging findings and the Unified PD rating scale part III (UPDRS III) score for the diagnosis and management of PD. Material and Methods Seventeen patients with PD who underwent both NmMRI and DaTSCAN were included...
January 1, 2017: Acta Radiologica
https://www.readbyqxmd.com/read/28734065/fdg-pet-dopamine-transporter-spect-and-olfaction-combining-biomarkers-in-rem-sleep-behavior-disorder
#19
Sanne K Meles, David Vadasz, Remco J Renken, Elisabeth Sittig-Wiegand, Geert Mayer, Candan Depboylu, Kathrin Reetz, Sebastiaan Overeem, Angelique Pijpers, Fransje E Reesink, Teus van Laar, Lisette Heinen, Laura K Teune, Helmut Höffken, Marcus Luster, Karl Kesper, Sofie M Adriaanse, Jan Booij, Klaus L Leenders, Wolfgang H Oertel
BACKGROUND: Idiopathic REM sleep behavior disorder is a prodromal stage of Parkinson's disease and dementia with Lewy bodies. Hyposmia, reduced dopamine transporter binding, and expression of the brain metabolic PD-related pattern were each associated with increased risk of conversion to PD. The objective of this study was to study the relationship between the PD-related pattern, dopamine transporter binding, and olfaction in idiopathic REM sleep behavior disorder. METHODS: In this cross-sectional study, 21 idiopathic REM sleep behavior disorder subjects underwent (18) F-fluorodeoxyglucose PET, dopamine transporter imaging, and olfactory testing...
July 22, 2017: Movement Disorders: Official Journal of the Movement Disorder Society
https://www.readbyqxmd.com/read/28689103/-123-i-meta-iodobenzylguanidine-mibg-myocardial-scintigraphy-in-patients-showing-scans-without-evidence-of-dopaminergic-deficits-swedds
#20
Fumihito Yoshii, Yusuke Moriya, Tomohide Ohnuki, Masafuchi Ryo, Wakoh Takahashi, Saori Kohara, Jun Hashimoto
OBJECTIVE: Scans without evidence of dopaminergic deficits (SWEDDs) in dopamine transporter single-photon emission computed tomography (DAT-SPECT) are found in 3.6-19.6% of patients with clinically suspected Parkinson's disease (PD). We investigated whether combined use of (123)I-meta-iodobenzylguanidine (MIBG) myocardial scintigraphy would be helpful to differentiate PD among SWEDDs patients. PATIENTS AND METHODS: 145 patients with clinically suspected PD underwent both DAT-SPECT and MIBG myocardial scintigraphy...
September 2017: Clinical Neurology and Neurosurgery
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