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Decreased binding of [ 11 C]flumazenil in Angelman syndrome patients with GABA A receptor β 3 subunit deletions
Author(s) -
Holopainen Irma E.,
Metsähonkala E.Liisa,
Kokkonen Hannaleena,
Parkkola Riitta K.,
Manner Tuula E.,
Någren Kjell,
Korpi Esa R.
Publication year - 2001
Publication title -
annals of neurology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 4.764
H-Index - 296
eISSN - 1531-8249
pISSN - 0364-5134
DOI - 10.1002/1531-8249(200101)49:1<110::aid-ana17>3.0.co;2-t
Subject(s) - flumazenil , angelman syndrome , gabaa receptor , ube3a , protein subunit , medicine , hippocampal formation , endocrinology , receptor , ubiquitin ligase , chemistry , pharmacology , ubiquitin , biochemistry , gene
We used positron emission tomography (PET) to study brain [ 11 C]flumazenil (FMZ) binding in four Angelman syndrome (AS) patients. Patients 1 to 3 had a maternal deletion of 15q11‐q13 leading to the loss of β3 subunit of γ‐aminobutyric acid A /benzodiazepine (GABA A /BZ) receptor, whereas Patient 4 had a mutation in the ubiquitin protein ligase (UBE3A) saving the β 3 subunit gene. [ 11 C]FMZ binding potential in the frontal, parietal, hippocampal, and cerebellar regions was significantly lower in Patients 1 to 3 than in Patient 4. We propose that the 15q11‐q13 deletion leads to a reduced number of GABA A /BZ receptors, which could partly explain the neurological deficits of the AS patients. Ann Neurol 2001;49:110–113