Angelman Syndrome
Conditions
Interventions
Sponsors
Miyazaki Tomoyuki
Takahashi Takuya
Eligibility
Sex/Gender
All
Inclusion criteria
Inclusion criteria: - Patients who meet Williams clinical diagnostic criteria - Genetically confirmed Angelman syndrome (deletion, uniparental disomy, imprinted mutation, or UBE3A gene mutation) - Men and women between 20 and 50 years old at the time of registration - Patients who have given written consent to participate in this study.
Exclusion criteria
Exclusion criteria: - Patients who have respiratory problems. - Patients who have an allergy to anesthetics. - Pregnant, lactating female. - Sensitive to alcohol - Implantation of metal substances and pacemakers - Head, neck and body size not suitable for MRI scanner - A tattoo larger than one point (including tattoo and art makeup) - A remarkable variant of brain structure (including congenital and traumatic) - Take Clonazepam, Clobazam - Patients who are taking benzodiazepine hypnotics and cannot stop the drug from a week before the [11C] Flumazenil test. - At the time of registration, any of the following laboratory test value abnormalities Serum creatinine 1.5 mg / dl or more AST 150 IU / L or more ALT 150 IU / L or more - Participating in unapproved nuclear medicine clinical trials and clinical trials within 6 months prior to enrollment - Patients judged as inappropriate for study by the research investigator
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| AMPA receptor density in the brain of patients with Angelman syndrome (compared to the database of healthy subjects) | — |
Secondary
| Measure | Time frame |
|---|---|
| GABA receptor density in the brain of patients with Angelman syndrome (compared to the database of healthy subjects) | — |
Contacts
Public ContactTomoyuki Miyazaki
Yokohama City University, School of Medicine
Outcome results
None listed