Novel mutation in EIF2B gene in a case of adult-onset leukoencephalopathy with vanishing white matter.
Explore the source record for details and available documents.
Adult↗
Biomedical subjects
Hidenao Fukuyama
Publications and source records attributed to Hidenao Fukuyama.
Heterogeneous epileptogenicity and cortical function within malformations of cortical development: a case report.
The authors report a 24-year-old patient with intractable partial epilepsy and massive malformations of cortical development (MCD). Subdural EEG recordings of habitual seizures showed heterogeneous epileptogenicity, and visual evoked potential was recorded within the MCD just adjacent to the most active epileptogenic focus. Resection of the small cortical area presumably with core epileptogenicity, while sparing the cortical functional area, improved seizure outcome without any postoperative functional deficits.
Adult↗
Fibers from the dorsal premotor cortex elicit motor-evoked potential in a cortical dysplasia.
OBJECTIVE: To identify the fibers originating from the dorsal premotor cortex (dorsal PMC) that contribute to motor-evoked potentials (MEP), we have applied integrated functional neuronavigation and awake surgery during removal of an epileptic cortical dysplasia located in the right premotor cortex. METHODS: Chronic subdural electrodes were employed for functional mapping during a routine invasive evaluation for intractable epilepsy. After the fibers originating from the dorsal PMC were plotted into the tractography-integrated functional neuronavigation, subcortical MEPs and clinical symptoms were examined during resection of the epileptogenic dorsal PMC. RESULTS: During removal of the epileptogenic area, MEPs were elicited by electrical stimulation of the fibers originating from the dorsal PMC, which were separated from the pyramidal tracts from the precentral gyrus. Resection of the dorsal PMC and its fibers caused a transient dysmetric movement of the left toe without motor weakness. CONCLUSION: Functional corticospinal tract fibers originating from the dorsal PMC can be defined and removed safely under local anesthesia with the aid of integration of functional neuronavigation and subcortical electrical stimulation.
Adolescent↗
Transient functional suppression and facilitation of Japanese ideogram writing induced by repetitive transcranial magnetic stimulation of posterior inferior temporal cortex.
The Japanese writing system is unique in that it is composed of two different orthographies: kanji (morphograms) and kana (syllabograms). The retrieval of the visual orthographic representations of Japanese kanji is crucial to the process of writing in Japanese. We used low-frequency repetitive transcranial magnetic stimulation (rTMS) to clarify the functional relevance of the left and right posterior inferior temporal cortex (PITC) to this process in native Japanese speakers. The experimental paradigms included the mental recall of kanji, kana-to-kanji transcription, semantic judgment, oral reading, and copying of kana and kanji. The first two tasks require the visualization of the kanji image of the word. We applied 0.9 Hz rTMS (600 total pulses) over individually determined left or right PITC to suppress cortical activity and measured subsequent task performance. In the mental recall of kanji and kana-to-kanji transcription, rTMS over the left PITC prolonged reaction times (RTs), whereas rTMS over the right PITC reduced RTs. In the other tasks, which do not involve the mental visualization of kanji, rTMS over the left or right PITC had no effect on performance. These results suggest that the left PITC is crucial for the retrieval of the visual graphic representation of kanji. Furthermore, the right PITC may work to suppress the dominant left PITC in the neural network for kanji writing, which involves visual word recognition.
Adult↗
Rapid recovery from coma with multifocal PLEDs in a patient with severe dementia and transient hypoxemia.
We report a patient with severe dementia who acutely developed transient coma following possible acute anoxic encephalopathy, and presented multifocal periodic lateralized epileptiform discharges (PLEDs) on EEG, who had a good recovery from the acute state. Two EEGs were recorded from this patient. In the first EEG taken immediately after admission, multifocal PLEDs were prominent, and the background activity consisted of low voltage, continuous and irregular theta activity (4-6 Hz). The patient recovered from coma (GCS-3) to the conscious state (GCS-15) within 14 hours and was not associated with newly developed focal or global neurological deficits except for stable severe dementia which had developed in the previous several years. Another EEG taken 5 days later showed disappearance of multifocal PLEDs. Transient appearance of multifocal PLEDs might represent at least the transient, vulnerability associated with underlying dementia in this particular patient. We concluded that multifocal PLEDs do not always indicate a poor outcome in patients with possible acute anoxic encephalopathy, and rapid diagnosis and appropriate treatment should be done even if the initial EEG shows multifocal PLEDs.
Aged, 80 and over↗
Ipsilateral facial sensory and motor responses to basal fronto-temporal cortical stimulation: evidence suggesting direct activation of cranial nerves.
To clarify the generator mechanism of sensory and motor facial responses ipsilateral to electrical stimulation of the inferior fronto-temporal cortex in epilepsy patients. Out of 30 patients who have been evaluated with chronically implanted subdural electrodes for medically intractable partial seizure or brain tumor involving the basal frontal or temporal cortex, 4 patients (age ranging 24-57 years) showed sensory and motor responses in the ipsilateral face to high frequency electrical cortical stimulation of the inferior fronto-temporal cortex. We investigated motor evoked potentials (MEPs) in the facial muscle by single pulse stimulation in 2 out of 4 patients. Three patients showed both sensory symptoms and muscle contraction in the ipsilateral lower face when the orbitofrontal or basal temporal cortex was stimulated with 50 Hz electric current. One patient had only sensory symptoms in the lower face when ipsilateral basal temporal area was stimulated. MEPs at the left orbicularis oris muscle were constantly elicited with the onset latency of 7 ms throughout the stimulus rate of 2-30 Hz in 1 patient out of 2 patients was tested. In another patient, MEP onset latency was 3.0 ms with 11 Hz stimulation. With electrical stimulation of the basal fronto-temporal cortex, the ipsilateral facial twitch might occur through either the direct activation of the facial nerve by the current spread in the middle cranial fossa or through the mechanism similar to blink reflex.
Adult↗
Corticospinal tract localization: integration of diffusion-tensor tractography at 3-T MR imaging with intraoperative white matter stimulation mapping--preliminary results.
Institutional review board approval and written informed consent were obtained. The purpose of this study was to prospectively validate usefulness of diffusion-tensor (DT) fiber tractography of the corticospinal tract at 3-T magnetic resonance imaging, in combination with the subcortical motor-evoked potential (MEP) technique, as a tool for tractography-guided neurosurgery. DT imaging and corticospinal tractography were performed at 3 T in eight patients (four men, four women; mean age, 41 years; age range, 23-58 years) with intracranial space-occupying lesions. Tractography data were transferred to a neuronavigation system, and tractography-guided neurosurgery was performed. During lesion resection, subcortical MEPs were recorded. Positive MEP response was observed in four patients. No patients developed new motor weakness postoperatively. Complementary use of tractography and MEP may be useful for intraoperative depiction of corticospinal tracts.
Adult↗
Epileptic polyopia with right temporal lobe epilepsy as studied by FDG-PET and MRI: a case report.
Polyopia is one of rare, visual hallucinations. A 61-year-old man suffered from daily episodes of polyopia and generalized convulsions, and he was diagnosed as right temporal lobe epilepsy. MRI revealed right amygdalar swelling. FDG-PET showed hypometabolism in the right anterior temporal and the mesial occipital areas. Polyopia is thought to be caused by dysfunction of updating process of visual information in the visual association cortices. It was most likely that, in this patient, both mesial temporal and ipsilateral occipital areas were responsible for manifesting epileptic polyopia, as ictal onset zone and symptomatogenic zone, respectively.
Epilepsy, Temporal Lobe↗
Direct and fast detection of neuronal activation in the human brain with diffusion MRI.
Using MRI, we found that a slowly diffusing water pool was expanding (1.7 +/- 0.3%) upon activation on the human visual cortex at the detriment of a faster diffusing pool. The time course of this water phase transition preceded the activation-triggered vascular response detected by usual functional MRI by several seconds. The observed changes in water diffusion likely reflect early biophysical events that take place in the activated cells, such as cell swelling and membrane expansion. Although the exact mechanisms remain to clarify, access to such an early and direct physiological marker of cortical activation with MRI will provide opportunities for functional neuroimaging of the human brain.
Adult↗
The neural basis of social tactics: An fMRI study.
One of the most powerful ways of succeeding in complex social interactions is to read the minds of companions and stay a step ahead of them. In order to assess neural responses to reciprocal mind reading in socially strained human relationships, we used a 3-T scanner to perform an event-related functional magnetic resonance imaging study in 16 healthy subjects who participated in the game of Chicken. Statistical parametric mapping showed that the counterpart effect (human minus computer) exclusively activated the medial frontal area corresponding to the anterior paracingulate cortex (PCC) and the supramarginal gyrus neighboring the posterior superior temporal sulcus (STS). Furthermore, when we analyzed the data to evaluate whether the subjects made risky/aggressive or safe/reconciliatory choices, the posterior STS showed that the counterpart had a reliable effect regardless of risky or safe decisions. In contrast, a significant opponent x selection interaction was revealed in the anterior PCC. Based on our findings, it could be inferred that the posterior STS and the anterior PCC play differential roles in mentalizing; the former serves as a general mechanism for mentalizing, while the latter is exclusively involved in socially risky decisions.
Adult↗
Somatosensory evoked magnetic fields to air-puff stimulation on the soft palate.
Impairment of sensory input to the soft palate has been reported in patients with obstructive sleep apnea syndrome. To investigate the reaction in the central nervous system related to soft palate perception, we measured the somatosensory evoked magnetic fields following air-puff stimulation in seven healthy volunteers by using a helmet-shaped 122-channel neuromagnetometer. The air-puffs were produced using compressed nitrogen and directed to the middle of the soft palate with an intraoral device. To evaluate the laterality of responses we used another appliance in which the air-puffs were directed to the middle and right side of the soft palate. In all the subjects, responses were identified symmetrically in the bilateral parietotemporal regions with a mean latency of about 130 ms from the soft palate stimulation. Prior to this peak, no distinct early responses were observed. There was no significant difference in the responses between the middle and right side stimulation. Corresponding equivalent current dipoles were estimated around the Sylvian fissures. These results suggested that the responses were derived from the second somatosensory areas. In conclusion, we could record long-latency responses to air-puff stimulation of the soft palate in the bilateral second somatosensory areas.
Adult↗
Song and speech: brain regions involved with perception and covert production.
This 3-T fMRI study investigates brain regions similarly and differentially involved with listening and covert production of singing relative to speech. Given the greater use of auditory-motor self-monitoring and imagery with respect to consonance in singing, brain regions involved with these processes are predicted to be differentially active for singing more than for speech. The stimuli consisted of six Japanese songs. A block design was employed in which the tasks for the subject were to listen passively to singing of the song lyrics, passively listen to speaking of the song lyrics, covertly sing the song lyrics visually presented, covertly speak the song lyrics visually presented, and to rest. The conjunction of passive listening and covert production tasks used in this study allow for general neural processes underlying both perception and production to be discerned that are not exclusively a result of stimulus induced auditory processing nor to low level articulatory motor control. Brain regions involved with both perception and production for singing as well as speech were found to include the left planum temporale/superior temporal parietal region, as well as left and right premotor cortex, lateral aspect of the VI lobule of posterior cerebellum, anterior superior temporal gyrus, and planum polare. Greater activity for the singing over the speech condition for both the listening and covert production tasks was found in the right planum temporale. Greater activity in brain regions involved with consonance, orbitofrontal cortex (listening task), subcallosal cingulate (covert production task) were also present for singing over speech. The results are consistent with the PT mediating representational transformation across auditory and motor domains in response to consonance for singing over that of speech. Hemispheric laterality was assessed by paired t tests between active voxels in the contrast of interest relative to the left-right flipped contrast of interest calculated from images normalized to the left-right reflected template. Consistent with some hypotheses regarding hemispheric specialization, a pattern of differential laterality for speech over singing (both covert production and listening tasks) occurs in the left temporal lobe, whereas, singing over speech (listening task only) occurs in right temporal lobe.
Adult↗
Clinical outcome of patients with SREDA (subclinical rhythmic EEG discharge of adults).
OBJECTIVE: To clarify the clinical significance of subclinical rhythmic EEG discharge of adults' (SREDA) by analyzing characteristics of SREDA and the outcome of patients based on retrospective analysis of EEG data base. METHODS: EEGs were recorded soon after the onset of patient's initial symptoms and repeatedly recorded at various intervals of 2-3 months in all 4 patients. Neurological findings, MRI and SPECT were also investigated. SUBJECTS: Out of 340 consecutive inpatient population who had EEGs, 4 patients (1.2%) showed SREDA. They had a diagnosis of syncope, transient global amnesia, generalized tonic-clonic seizure and right temporal lobe epilepsy for each. RESULTS: There was no consistent abnormality in the brain MRI, CT or SPECT among the 4 patients. The acute and transient symptoms disappeared and did not recur within the follow-up period of 28 months in any patient. In 2 patients SREDA disappeared in the follow-up EEG taken 7-14 days after the first EEG showing SREDA. In the other 2 patients, the follow-up EEGs taken 5 days after the first EEG with SREDA when clinical symptoms disappeared showed less frequent occurrence of SREDA. CONCLUSION: Being different from the previous reports suggesting the relation with cardiogenic insults or persistent ischemic abnormality, SREDA can occur in patients with various acute brain dysfunctions followed by a favorable clinical outcome.
Adolescent↗
Comparison of 3.0- and 1.5-T three-dimensional time-of-flight MR angiography in moyamoya disease: preliminary experience.
PURPOSE: To prospectively compare 3.0- and 1.5-T three-dimensional (3D) time-of-flight (TOF) magnetic resonance (MR) angiography in patients with moyamoya disease, with special emphasis on the visualization of abnormal netlike vessels (moyamoya vessels). MATERIALS AND METHODS: Study protocols were approved by the local ethics committee; written informed consent was obtained from all patients. The study included 24 consecutive patients with moyamoya disease (four male and 20 female patients). Patients ranged in age from 17 to 66 years (mean age, 41 years). Moyamoya disease had been diagnosed in all patients before they were entered into the study. All patients underwent 3D TOF MR angiography at both 3.0 and 1.5 T; imaging examinations were performed within 14 days of each other. Maximum intensity projections (MIPs) obtained with MR angiography performed at both 3.0 and 1.5 T were evaluated by two neuroradiologists; the visualization of moyamoya vessels was graded according to a 4-point scale. For both 3.0- and 1.5-T imaging, the number of high-signal-intensity areas and the summation of cross-sectional areas of high signal intensity on source images obtained at the same level of MR angiography were compared quantitatively by using the Wilcoxon matched-pair signed-rank test. RESULTS: Moyamoya vessels were better visualized on MIPs obtained with 3.0-T imaging than on MIPs obtained with 1.5-T imaging (P < .001). At the identical level of the source image, 3.0-T imaging depicted more high-signal-intensity areas than did 1.5-T imaging. Wider cross-sectional areas of moyamoya vessels were visualized with 3.0-T imaging than with 1.5-T imaging (P < .001). CONCLUSION: Moyamoya vessels are better depicted with MR angiography at 3.0 T than at 1.5 T.
Adolescent↗
Diffusion-tensor fiber tractography: intraindividual comparison of 3.0-T and 1.5-T MR imaging.
PURPOSE: To prospectively evaluate the depiction of brain fiber tracts at 3.0- versus 1.5-T diffusion-tensor (DT) fiber tractography performed with parallel imaging. MATERIALS AND METHODS: Institutional review board approval was obtained, and each subject provided written informed consent. Subjects were 30 healthy volunteers (15 men, 15 women; mean age, 28 years; age range, 21-46 years). Single-shot spin-echo echo-planar magnetic resonance (MR) sequences with parallel imaging were applied. Four fiber tracts were reconstructed: corticospinal tract (CST), superior longitudinal fasciculus (SLF), corpus callosum (CC), and fornix. Two neuroradiologists compared 3.0- and 1.5-T tractography in terms of fiber tract depiction by using five depiction scores (scores 0-4) and numbers of reconstructed tract fibers and in terms of lateral asymmetry in the CST by using numbers of reconstructed fibers. The Wilcoxon signed rank test was applied for statistical analysis. RESULTS: Visual scores for both CST hemispheres (P < .001), the right SLF (P = .005), the CC (P = .01), and the right fornix (P = .04) were higher at 3.0-T DT tractography. Larger numbers of CST (right, P = .008; left, P < .001), SLF (right, P = .001; left, P = .02), and fornix (bilaterally, P = .02) tract fibers were depicted at 3.0 T. The asymmetry index for the CST was lower (P < .001) at 3.0 T. Visual scores for the left SLF and the left fornix and numbers of CC tract fibers were not significantly different. CONCLUSION: Depiction of most fiber tracts was improved at 3.0-T DT tractography compared with depiction at 1.5-T tractography.
Adult↗
Altered plasticity of the human motor cortex in Parkinson's disease.
Interventional paired associative stimulation (IPAS) to the contralateral peripheral nerve and cerebral cortex can enhance the primary motor cortex (M1) excitability with two synchronously arriving inputs. This study investigated whether dopamine contributed to the associative long-term potentiation-like effect in the M1 in Parkinson's disease (PD) patients. Eighteen right-handed PD patients and 11 right-handed age-matched healthy volunteers were studied. All patients were studied after 12 hours off medication with levodopa replacement (PD-off). Ten patients were also evaluated after medication (PD-on). The IPAS comprised a single electric stimulus to the right median nerve at the wrist and subsequent transcranial magnetic stimulation of the left M1 with an interstimulus interval of 25 milliseconds (240 paired stimuli every 5 seconds for 20 minutes). The motor-evoked potential amplitude in the right abductor pollicis brevis muscle was increased by IPAS in healthy volunteers, but not in PD patients. IPAS did not affect the motor-evoked potential amplitude in the left abductor pollicis brevis. The ratio of the motor-evoked potential amplitude before and after IPAS in PD-off patients increased after dopamine replacement. Thus, dopamine might modulate cortical plasticity in the human M1, which could be related to higher order motor control, including motor learning.
Aged↗
MR imaging of Liliequist's membrane.
Liliequist's membrane is an arachnoid structure well-known to neurosurgeons. However, the importance of this membrane had been lost until the development of endoscopic third ventriculostomy (ETV). ETV is superior in its minimal invasiveness, but in some subgroups of hydrocephalus, the effectiveness of ETV may be reduced. Liliequist's membrane may block the cerebrospinal fluid (CSF) flow from the defect of the third ventricle floor, which may cause failure of ETV. Liliequist's membrane can be visualized on magnetic resonance (MR) imaging in normal healthy individuals, however, its visibility is different among individuals. CSF artifacts exist to varying degrees, but do not impede visualization of Liliequist's membrane in most subjects. Since Liliequist's membrane is a cisternal structure, the three-dimensional (3D) constructive interference in steady state (CISS) sequence is useful. The outcome of ETV could be predicted with MR imaging findings of Liliequist's membrane in a patient with obstructive hydrocephalus. High-field (> or =3 Tesla) MR imaging of Liliequist's membrane also offers superior resolution and is expected to provide additional information about Liliequist's membrane.
Arachnoid↗
Early experience with 3-T magnetic resonance tractography in the surgery of cerebral arteriovenous malformations in and around the visual pathway.
OBJECTIVE: To evaluate of the role of magnetic resonance (MR) tractography on the optic radiation with a 3-T MR unit in the surgery of cerebral arteriovenous malformation (AVM) in and around the visual pathway. METHODS: Of the 322 patients with cerebral AVMs admitted to our clinic between 1978 and 2005, a study of MR tractography was made on 29 patients. Ten of those patients had AVMs in and around the visual pathway and were included in this study. There were two men and eight women ranging in age from 15 to 64 years (mean age, 34.5 +/- 14.8 yr). All of the patients underwent 3-T tractography of optic radiation (OR) and neuro-ophthalmologic evaluation. Four of the 10 patients underwent surgical resection of the AVM. A postoperative 3-T MR study and a neuro-ophthalmologic evaluation was performed 1 month after surgery in most patients. RESULTS: The preoperative patients for whom tractography demonstrated a continuous bundle of OR from the medial temporal region to the primary visual cortex had minimal or no visual field loss, whereas the patients for whom the tractography did not show a continuous bundle of OR had significant visual loss. The patients for whom tractography in the postoperative study demonstrated a bundle of OR experienced no postoperative deterioration of the visual field loss, whereas the patients for whom tractography did not demonstrate a bundle of OR exhibited significant visual field loss. CONCLUSION: This technique is thought to be useful in confirming the integrity of and localizing deviated tract and in evaluating the surgical risk, especially for nonhemorrhagic AVMs in and around the visual pathways, taking some limitations of this method into consideration.
Adolescent↗