Differing clinical features between Japanese siblings with cerebrotendinous xanthomatosis with a novel compound heterozygous CYP27A1 mutation: a case report.

Background: Cerebrotendinous xanthomatosis (CTX) is an autosomal-recessive lipid storage disorder caused by mutations in the CYP27A1 gene encoding the key enzyme in the bile acid synthesis, sterol 27-hydroxylase. Here, we report two Japanese CTX siblings with a novel compound heterozygous CYP27A1 mutation, showing different clinical phenotypes and responses to chenodeoxycholic acid (CDCA) therapy.

Case Presentation: The proband, a 32-year-old man, who had chronic diarrhea, bilateral cataracts, and xanthomas, demonstrated progressive neurological manifestations including ataxia, and spastic paraplegia during a 5-year follow-up period despite normalization of serum cholestanol after initiation of CDCA treatment.

[What is the Core Symptom and Neural Mechanism of Asperger Syndrome? From Our Ten Years of Clinical Observation of Adults with Autism Spectrum Disorder].

In 2008, we launched a new outpatient clinic and day care service designed exclusively for adults with autism spectrum disorder (ASD). Since then, more than 6000 people visited our facility. We have also launched the Medical Institute for Developmental Disabilities Research (MIDDR) at Showa University, where neuroimaging studies with a 3.

Functional significance of the electrocorticographic auditory responses in the premotor cortex.

Other than well-known motor activities in the precentral gyrus, functional magnetic resonance imaging (fMRI) studies have found that the ventral part of the precentral gyrus is activated in response to linguistic auditory stimuli. It has been proposed that the premotor cortex in the precentral gyrus is responsible for the comprehension of speech, but the precise function of this area is still debated because patients with frontal lesions that include the precentral gyrus do not exhibit disturbances in speech comprehension. We report on a patient who underwent resection of the tumor in the precentral gyrus with electrocorticographic recordings while she performed the verb generation task during awake brain craniotomy.

[Communication disorder in chronic stage stroke patients].

Although aphasia is a common neurological condition, and its diagnostic procedure is mostly established, it is not easy to fully evaluate the communicative ability of each patient, as there are huge interindividual differences among patients, and their abilities may vary depending on their circumstances. Even with the advancement of neuroimaging technique, the relationship between lesion localizations and symptoms remains elusive. To evaluate their residual abilities which helps daily communication, it is valuable to observe their abilities in a setting which reflects real social contexts.

Steroid-responsive thalamic lesions accompanying microbleeds in a case of Hashimoto's encephalopathy with autoantibodies against α-enolase.

A 67-year-old man receiving antithrombotic therapy developed rapidly progressive amnesia. T2-weighted images of brain MRI revealed hyperintense lesions in the bilateral thalami accompanied by microbleeds. Antithyroglobulin antibodies and autoantibodies against the N-terminal of α-enolase (NAE) were identified in the patient's serum; therefore, Hashimoto's encephalopathy (HE) was suspected.

Face specific broadband electrocorticographic spectral power change in the rhinal cortex.

Recent studies have revealed additional face areas in the anterior temporal lobe in addition to the 'core' face areas (fusiform face area, occipital face area, and face area in the superior temporal sulcus). The electrocorticogram of a patient who underwent implantation of subdural grid electrodes in the right anterior ventral temporal lobe revealed a strong face-specific response both in event-related potentials (ERP) and in the induced broadband spectral power change at an electrode located on the anterior collateral sulcus, straddling the border between the perirhinal and entorhinal cortices. The ERP and induced broadband power changes were highly specific to facial stimuli, which was obvious even in a single trial analysis.

Effect of sound intensity on tonotopic fMRI maps in the unanesthetized monkey.

The monkey's auditory cortex includes a core region on the supratemporal plane (STP) made up of the tonotopically organized areas A1, R, and RT, together with a surrounding belt and a lateral parabelt region. The functional studies that yielded the tonotopic maps and corroborated the anatomical division into core, belt, and parabelt typically used low-amplitude pure tones that were often restricted to threshold-level intensities. Here we used functional magnetic resonance imaging in awake rhesus monkeys to determine whether, and if so how, the tonotopic maps and the pattern of activation in core, belt, and parabelt are affected by systematic changes in sound intensity.

Anomic alexia of kanji in a patient with anomic aphasia.

The ability to read aloud kanji (logogram) words and to comprehend their meaning was systematically examined to clarify the underlying mechanism of kanji alexia in a patient with anomic aphasia. Confrontation naming, reading aloud and reading comprehension tasks were performed using 110 words from 11 semantic categories written in kanji or kana. Performance in oral reading of kanji words was significantly worse than oral reading of the same words transcribed into kana words.

High-frequency gamma-band activity in the basal temporal cortex during picture-naming and lexical-decision tasks.

Gamma-band activity (GBA) in electroencephalograms (EEGs) has been shown to reflect various cognitive processes. GBA has typically been recorded in the 30-60 Hz range in scalp EEGs. Recently, task-related "high GBA" (HGBA) with frequencies up to 100 Hz has been observed in studies with invasive electrocorticograms (ECoGs).

Neural correlates of context memory with real-world events.

There has been little evidence for the difference in the retrieval processes of when and where something happened, one of the important factors in understanding episodic memory. We used positron emission tomography (PET) to identify the neural networks associated with temporal and spatial context memory of events experienced under experimental conditions similar to those of everyday life. Before PET, subjects experienced 36 events.

Thinking of the future and past: the roles of the frontal pole and the medial temporal lobes.

Human lesion data have indicated that the frontal polar area might be critically involved in having an insight into one's future. Retrospective memory mediated by medial temporal lobes and related structures, on the other hand, could be used to extract one's future prospects efficiently. In the present study, we investigated the roles of these two brain structures in thinking of the future and past by using positron emission tomography (PET) and a naturalistic task setting.