Cannabinoid type 1 receptor (CB1R), as the major member of the endocannabinoid system, is among the most abundant receptors expressed in the central nervous system. CB1R is mainly located on the axon terminals of presynaptic neurons and participate in the modulation of neuronal excitability and synaptic plasticity, playing an important role in the pathogenesis of various neuropsychiatric diseases. In recent years, the consistent development of CB1R radioligands and the maturity of molecular imaging techniques, particularly positron emission tomography (PET) may help to visualize the expression and distribution of CB1R in central nervous system . At present, CB1R PET imaging can effectively evaluate the changes of CB1R levels in neuropsychiatric diseases such as Huntington's disease and schizophrenia, and its correlation with the disease severity, therefore providing new insights for the diagnosis and treatment of neuropsychiatric diseases. This article reviews the application of CB1R PET imaging in Alzheimer's disease, Parkinson's disease, Huntington's disease, schizophrenia, post-traumatic stress disorder, cannabis use disorder and depression.
Cannabinoids ; Humans ; Mental Disorders/diagnostic imaging* ; Neurodegenerative Diseases/diagnostic imaging* ; Neurons ; Positron-Emission Tomography ; Receptor, Cannabinoid, CB1

ObjectiveTo investigate the clinical (including reproductive) manifestations and genetic characteristics of familial fragile X syndrome (FXS).

METHODSWe collected the clinical data about a case of familial FXS by inquiry, testicular ultrasonography, semen analysis, determination of sex hormone levels, and examinations of the peripheral blood karyotype and Y chromosome microdeletions. Using Southern blot hybridization, we measured the size of the CGG triple repeat sequence of the fragile X mental retardation-1 (FMR1) gene and determined its mutation type of the pedigree members with a genetic map of the FXS pedigree.

RESULTSAmong the 34 members of 4 generations in the pedigree, 3 males and 1 female (11.76%) carried full mutation and 9 females (26.47%) premutation of the FMR1 gene. Two of the males with full FMR1 mutation, including the proband showed a larger testis volume (>30 ml) and a higher sperm concentration (>250 ×10⁶/ml), with a mean sperm motility of 50.5%, a mean morphologically normal sperm rate of 17.5%, an average sperm nuclear DNA fragmentation index (DFI) of 18.5%, a low level of testosterone, normal karyotype in the peripheral blood, and integrity of the azoospermia factor (AZF) region in the Y chromosome. One of the second-generation females carrying FMR1 premutation was diagnosed with premature ovarian failure and another 3 with uterine myoma.

CONCLUSIONSSome of the FXS males in the pedigree may present macroorchidism and polyzoospermia but with normal semen parameters. In the intergenerational transmission, premutation might extend to full mutation, with even higher risks of transmission and extension of mutation in males, especially in those with >80 CGG triple repeat sequences. Therefore, it is recommended that the couples wishing for childbearing receive genetic testing, clinical guidance, and genetic counseling before pregnancy and, if necessary, prenatal diagnosis and preimplantation genetic diagnosis.

Chromosome Deletion ; Chromosomes, Human, Y ; genetics ; DNA Fragmentation ; Female ; Fragile X Mental Retardation Protein ; genetics ; Fragile X Syndrome ; genetics ; Genetic Testing ; Humans ; Infertility, Male ; genetics ; Karyotyping ; Male ; Mutation ; Organ Size ; Pedigree ; Pregnancy ; Preimplantation Diagnosis ; Risk ; Sex Chromosome Aberrations ; Sex Chromosome Disorders of Sex Development ; genetics ; Sperm Count ; Testis ; diagnostic imaging ; pathology

No abstract available.
Adult ; Brain/diagnostic imaging ; Bronchoscopy ; *Chromosomes, Human, Pair 9 ; Death, Sudden, Cardiac/*etiology ; Gene Duplication ; Humans ; Karyotyping ; Male ; Mental Disorders/*complications/genetics/pathology ; Tomography, X-Ray Computed ; Tracheomalacia/diagnostic imaging ; Ventricular Fibrillation/complications

BACKGROUND AND PURPOSE: The apolipoprotein E (Apo E) epsilon4 allele is known to be a risk factor for Alzheimer's disease (AD). However, there are debates about the relationship between Apo E epsilon4 frequency and subcortical vascular dementia (SVaD). We compared the frequency of the Apo E epsilon4 allele in AD and SVaD in Koreans. METHODS: The study was comprised of 400 subjects who visited the Dementia Clinic at Daegu Catholic University from July 2007 to December 2011. Neuropsychological tests, a brain MRI, and blood laboratory tests were performed on all subjects. Two hundred and ninety subjects were AD, 32 subjects were SVaD and 78 subjects were normal. The diagnosis for SVaD was based on the Diagnostic and Statistical Manual of Mental Disorders, Fourth Edition (DSM-IV) and Erkinjuntti criteria, and the diagnosis for AD was based on the DSM-IV and National Institute of Neurological and Communicative Disorders and Stroke and Alzheimer's disease and Related Disorders Association criteria. Apo E polymorphism was genotyped in all subjects. RESULTS: The Apo E epsilon4 allele frequency was 17.4% in AD, 10.9% in SVaD and 8.3% in the normal group (p=0.03). The odds ratio (OR) after age adjustment for AD conferred to the Apo E epsilon4 was 2.04 (p=0.04). But, the OR for SVaD conferred to the Apo E epsilon4 allele was 1.34 (p=0.62), indicating that the Apo E epsilon4 allele does not significantly confer the risk of SVaD. CONCLUSIONS: Apo E epsilon4 is a reliable predictor of AD but has modest efficacy for predicting SVaD in Koreans.
Alleles ; Alzheimer Disease* ; Apolipoproteins E ; Apolipoproteins* ; Brain ; Communication Disorders ; Daegu ; Dementia ; Dementia, Vascular* ; Diagnosis ; Diagnostic and Statistical Manual of Mental Disorders ; Gene Frequency ; Magnetic Resonance Imaging ; Neuropsychological Tests ; Odds Ratio ; Risk Factors ; Stroke

OBJECTIVE: Comorbid depression is common in patients with Alzheimer's disease (AD). An increase in white matter lesions (WMLs) has been associated with depression in both elderly individuals with normal cognition and patients with Alzheimer's disease. We investigated whether the severity and location of WMLs influence the association between WMLs and comorbid depression in AD. METHODS: We enrolled 93 AD patients from Seoul National University Bundang Hospital. We administered both the Mini International Neuropsychiatric Inventory (MINI) and the Korean version of the Consortium to Establish a Registry for Alzheimer's Disease Assessment Packet (CERAD-K) clinical and neuropsychological battery. Subjects also underwent brain magnetic resonance imaging (MRI). We diagnosed AD according to the criteria of the National Institute of Neurological and Communicative Disorders and Stroke and the Alzheimer's Disease and Related Disorders Association. We diagnosed depressive disorders according to the DSM-IV diagnostic criteria, and evaluated the severity of depressive symptoms using the Korean version of the Geriatric Depression Scale (GDS-K). We quantified the WML volumes from the brain MRI using a fully automated segmentation algorithm. RESULTS: The log of the WML volume in the frontal lobe was significantly associated with depressive disorders (odds ratio=1.905, 95% CI=1.027-3.533, p=0.041), but not with the severity of depressive symptoms as measured by the GDS-K. CONCLUSION: The WML volume in the frontal lobe conferred a risk of comorbid depressive disorders in AD, which implies that comorbid depression in AD may be attributed to vascular causes.
Aged ; Alzheimer Disease* ; Brain ; Cognition ; Communication Disorders ; Depression* ; Depressive Disorder ; Diagnostic and Statistical Manual of Mental Disorders ; Frontal Lobe ; Humans ; Magnetic Resonance Imaging ; Seoul ; Stroke

Aerophagia is a disorder caused by abnormal accumulation of air in the gastrointestinal tract as a result of repetitive and frequent inflow of air through the mouth. For the diagnosis of this condition, it is difficult to objectively measure the air swallowing. However, multichannel intraluminal impedance monitoring facilitates the differential diagnosis between normal air swallowing and pathologic aerophagia, and can aid in the determination of the frequency and amount of air swallowed. In this report, in addition to a literature review, we describe a case of 36-year-old man with abdominal distension who was diagnosed with aerophagia using esophageal impedance monitoring and was treated with clonazepam.
Adult ; Aerophagy/*diagnosis/diagnostic imaging/drug therapy ; Anticonvulsants/therapeutic use ; Clonazepam/therapeutic use ; Diagnosis, Differential ; Electric Impedance ; Humans ; Male ; Mental Disorders/complications ; Tomography, X-Ray Computed

OBJECTIVE: Serotonin-1A receptors (5-HTR1A) is suggested to be involved in the etiology of several psychiatric disorders including panic disorder (PD). A few imaging studies have suggested the alterations of the cingulum bundle in PD. The objective of this study is to examine the structural changes of cingulum related to the 5-HTR1A polymorphism rs6295 in the patients with PD. METHODS: Thirty-two right-handed patients with PD [11 men, 21 women; 40.34+/-13.17 (mean+/-SD) age] who met the diagnostic criteria in Structured Clinical Interview for DSM-IV were examined by means of MRI at 3 Tesla. We divided the patients with PD into CC genotype group and non CC genotype group (GG/CG genotype group) of the 5-HTR1A rs6295 polymorphism to compare the cingulum white matter connectivity. RESULTS: Tract-based spatial statistics showed significantly increased fractional anisotropy (FA) values in cingulate gyrus process of left cingulum in 5-HTR1A CC genotype compared to GG/CG genotype in PD. Significant positive correlations were shown between the Albany Panic and Phobia Questionnaire (APPQ) interoceptive fear subscale scores, the Anxiety Sensitivity Inventory-Revised fear of publicly observable anxiety reaction subscale scores and FA values of cingulate gyrus process of left cingulum in 5-HTR1A rs6295 GG/CG genotype group. In CC genotype group, APPQ total, APPQ agoraphobia subscale and APPQ social phobia subscale scores also showed significant positive correlations with FA values of hippocampal process of right cingulum. CONCLUSION: This preliminary study suggests that 5-HTR1A polymorphism may be associated with the cingulum white matter connectivity in PD.
Agoraphobia ; Anisotropy ; Anxiety ; Diagnostic and Statistical Manual of Mental Disorders ; Female ; Genotype ; Gyrus Cinguli ; Humans ; Magnetic Resonance Imaging ; Male ; Neuroimaging ; Panic Disorder* ; Panic* ; Phobic Disorders ; Surveys and Questionnaires

OBJECT: Nicotine dependence is the most common substance abuse disorder. One of the characteristics of nicotine dependence is craving. Regional activation of the brain induced by craving for nicotine was evaluated by using functional magnetic resonance imaging to investigate neuroanatomical site of smoking craving. METHOD: A smoker who satisfied DSM-IV criteria for nicotine dependence and a non smoker was studied. MRI data were acquired on a 1.5T Magnetom Vision Plus with a head volume coil. Two sets of visual stimuli were presented to subjects in a random manner. One was the film scenes of inducing smoking craving and the other was neutral stimuli not related to smoking. There were two fMRI sessions before and after smoking or sham smoking. Data were analyzed using SPM99. RESULTS: fMRI showed significant activated area in anterior cingulate and medial frontal lobes in the smoker during smoking craving. Right dorsolateral prefrontal cortex and parietal lobes were activated in the control during visual stimulation before smoking. After smoking, there was no brain activation during visual stimulation in both of smoker and non smoker. CONCLUSION: Metabolic activity of the anterior cingulate and medial frontal lobes increased during craving for smoking. This result suggests that fMRI may be a valuable tool in the identification of neurobiological process of craving.
Brain ; Diagnostic and Statistical Manual of Mental Disorders ; Frontal Lobe ; Head ; Magnetic Resonance Imaging* ; Nicotine ; Parietal Lobe ; Photic Stimulation ; Prefrontal Cortex ; Smoke* ; Smoking* ; Substance-Related Disorders ; Tobacco Use Disorder

OBJECTIVES: Reductions of N-acetylaspartate (NAA), a putative marker of neuronal viability, within the subcortical structures in patients with obsessive-compulsive disorder (OCD) are well documented. However, there has been no report of the NAA level in cortical structures. The authors used proton magnetic resonance spectroscopic imaging (1H-MRSI) to assess potential reductions of NAA in the frontal white matter, prefrontal gray matter, parietal gray and white matter, and the cingulate in drugnaive patients with OCD and explored the relationship between the brain metabolites and the degree to the dysfunction on the neuropsychological performances. METHODS : Thirteen drug-naive patients who met DSM-IV criteria for OCD and 13 healthy age-, sex-, handness- matched control subjects were studied. Subjects underwent MRI and 1H-MRSI and the peaks of NAA, creatine+phosphocreatine (Cr), and choline-containing compounds (Cho) were measured. Differences between patients and control subjects were tested for each metabolite ratio, and the relations between metabolite ratios and clinical symptoms, neuropsychological performances were examined. RESULTS : Upon comparison with normal controls, NAA/Cr ratio was significantly reduced in patients for the prefrontal gray matter, frontal white matter and anterior cingulate. There was no difference in Cho/Cr or NAA/Cho in any region. Also, a significant positive correlation was found between prefrontal NAA/Cr ratio and the delayed recall score of the Rey-Osterrieth Complex Figure Test in patients with OCD. CONCLUSION : The reduced NAA/Cr ratio in the prefrontal gray matter and frontal white matter suggests that OCD patients have lower neuronal viability than normal comparisons and it may be related to impaired organizational strategies in patients with OCD. These results support a role for the frontal-subcortical circuitry in a neurobiologic model of OCD.
Brain ; Diagnostic and Statistical Manual of Mental Disorders ; Humans ; Magnetic Resonance Imaging ; Magnetic Resonance Spectroscopy ; Neurons ; Obsessive-Compulsive Disorder* ; Protons* ; Rabeprazole

OBJECTIVES: Many recent studies of relationship between geriatric depression and changes in brain have examined the structural abnormalities in hippocampus. Using MRI, the hippocampal volumes of patients with major depression were measured and compared with control subjects for research of above relationship. METHOD: Fourteen patients (early-onset five, late-onset nine) with major depressive disorder based on DSM-IV and fourteen age-matched normal controls are included. Applying semiautomated computer program to MRI, we measured and compared the hippocampal volumes in two groups. Moreover we identified the laterality and the correlation of the volumes with age of onset, duration of education, numbers of psychiatric admission, duration of illness, MMSE scores at admission, and severity of depression. RESULT: No significant difference was observed between the hippocampal volumes of patients with major depressive disorder and those of control subjects. A significant correlation in patients was observed between duration of illness and left hippocampal volume to cerebral volume ratio. In early-onset depressed patients, left hippocampal volume was larger than in late-onset depressed patients and the positive correlation was observed between MMSE scores at admission and left hippocampal volume to cerebral volume ratio. In late-onset depressed patients, there was the negative correlation between numbers of psychiatric admission and MMSE scores at admission as well as and between cerebral volume and age of onset. CONCLUSION: Our study indicated no change in the volume of hippocampus among geriatric major depressive patients. So we suggest that more extensive and systematic studies for structural abnormality of hippocampus will be required.
Age of Onset ; Aged* ; Brain ; Depression ; Depressive Disorder, Major* ; Diagnostic and Statistical Manual of Mental Disorders ; Education ; Hippocampus ; Humans ; Magnetic Resonance Imaging