Non‐Invasive Cerebral Blood Volume Measurement during Epilepsy Using Multi‐Channel Near Infra‐Red Spectroscopic Topography

Abstract

PLATFORM AND POSTER SESSIONS 57 with a chromosomal dcletion. Thcse non-deletion AS patients are caused by paternal uniparental disomy (UPD), imprinting mutation (IM), or loss-or-function mutations of the UBE3A gene, cach of which predisposes different recurrence risk. To elucidate molecular etiology of non-dclction AS patients, we investigated 34 AS patients without a chromosomal deletion.Me/hod.s: Thirty sporadic AS patients, and 4 familial AS patients (2 families of 2 sibs) were enrolled to the study. The diagnosis of AS was based on Williams' criteria (Williams et al., Am J Med Genet 1995, 56: 237). Genomic DNA was extracted from peripheral blood by a standard procedure. DNA mcthylation tcst at SNRPN locus and genotyping using 7 highly informative PCR-based polymorphisms within 15q I Iq I3 were carried out to identify UPD and IM. When both UPD and IM were ruled out, the patients were classified :LS non-UPD, non-IM. For thcsc non-UPD, non-1M paticnts, UBE3A mutations were screened by PCR-SSCP analysis using 10 sets ofprimcrs covering all coding exons.Results: Among 30 sporadic patients, I UPD and 3 IM patients were identified, and the remaining 26 patients were classified as non-UPD, non-IM. Among 4 familial patients, 2 sibs from I family were detected as IM, whcrcas 2 sibs from another family were classified as non-UPD, non-IM. No UBE3A mutations were identified within 26 sporadic and 2 familial non-UPD, non-IM patients. Conclusion: Threc molecular classes were identified for noiideletion AS patients. Therefore, the underlying genetic mechanism was dcmonstratcd to be complex for AS patients without a chromosomal deletion. Combination of the DNA methylation test and PCR-based polymorphisms was sufficient to detect UPD and IM patients. Because recurrence risk is low for UPD and high lor IM, systematic molecular investigation including the DNA methylation test and PCR-based polymorphisms should bc donc for non-delction AS paticnts for genetic counscling purpose. A majority of non-deletion patients were classified as noii-UPD, non-1M. Although, approximate 30 % of non-UPD, non-

Focus Diagnosis of Epilepsy Using Near‐Infrared Spectroscopy

“…A tight coupling between the neuronal activity and the rCBF increase has been established (2) and used in functional mapping with PET, SPECT, and fMRI. The rationale of NIRS for measuring the change of rCBV has been confirmed by studies with motor (3) and language stimulation (1). Watanabe et al (3) reported rCBV increase in the pericentral region during finger movements using NIRS.…”

“…In 26 cases, the epileptic seizures were induced by bemegride intravenous injection, and video‐EEG monitoring and ictal ECD or HMPAO [ 191 Tc]‐SPECT were simultaneously measured (1). In the other two cases, spontaneous seizures were recorded with 6‐ to 8‐h monitoring with EEG and NIRS.…”

Higher-Order Brain Function Analysis by Trans-Cranial Dynamic Near-Infrared Spectroscopy Imaging

“…Noninvasive dynamic optical topography has a wide variety of applications from basic science to clinical medicine. [54][55][56][57][58][59][60][61][62][63][64][65] Table 1 shows the fields where we have applied noninvasive dynamic optical topography by working with various collaborators. Several applications, such as the study of the Broca and Wernicke language areas, the assessment of the dominant hemisphere of the brain, epilepsy focus determination, and sleep studies are reported in this special issue of the Journal of Biomedical Optics.…”