Chédiak-Higashi syndrome presenting as a hereditary spastic paraplegia.

Hereditary spastic paraplegias (HSPs) comprise a group of neurodegenerative disorders characterized by weakness and leg spasticity. LYST is responsible for Chédiak-Higashi syndrome (CHS), which exhibits partial oculocutaneous albinism, primary immunodeficiency, and bleeding tendency in childhood. Although neurological symptoms of CHS also appear in adulthood, a phenotype of spastic paraplegia has rarely been reported in CHS.

Genetic Creutzfeldt-Jakob disease-M232R with the cooccurrence of multiple prion strains, M1 + M2C + M2T: Report of an autopsy case.

Genetic Creutzfeldt-Jakob disease (gCJD) with a methionine to arginine substitution at codon 232 of the prion protein gene (gCJD-M232R) is rare and has only been reported in Japan. We report an autopsy case of gCJD-M232R showing alleles of codon 129 that were homozygous for methionine and the presence of multiple strains of the protease-resistant, abnormal isoform of prion protein (PrP ), M1 + M2C + M2T. The patient, a 54-year-old Japanese man, died after a clinical course of 21 months characterized by slowly progressive dementia and sleep disturbance.

Sensorineural hearing loss and hypoplastic cochlea in Axenfeld-Rieger syndrome with FOXC1 mutation.

Objective: Axenfeld-Rieger syndrome (ARS) type 3 is a rare autosomal dominant disease, characterized by anterior segment dysgenesis of the eye, hearing loss, and cardiac defects. ARS type 3 is highly associated with FOXC1 mutations, which induces developmental disorders of neural crest cells. Most studies about ARS patients focused on ophthalmologic findings, but details in their hearing loss have not yet been revealed.

Monitoring of brain tissue perfusion utilizing a transducer holder for transcranial color duplex sonography.

Objective: We have improved a transducer holder for transcranial color duplex sonography (TCDS) monitoring via both the temporal and foraminal windows (TW/FW). The objective is to clarify the clinical usefulness of and identify problems with TCDS monitoring in the evaluation of brain tissue perfusion.

Methods: Brain tissue perfusion was monitored in 11 patients (ages 31-94, mean 66).

Dynamic close-mouth view radiograph method for the diagnosis of lateral dynamic instability of the atlantoaxial joint.

The purpose of the current study is to establish the dynamic close-mouth view radiograph method. Seven healthy volunteers were enrolled. Dynamic open-mouth and close-mouth view radiographs were obtained.

Acetazolamide vasoreactivity evaluated by transcranial power harmonic imaging and Doppler sonography.

Background: Cerebral vasoreactivity (CVR) in the major cerebral arteries evaluated by transcranial Doppler sonography has shown some correlation with CVR in the brain tissue measured by other neuroradiological modalities. To clarify vasoreactive differences in the brain tissue and the major cerebral arteries, we have evaluated the relationship of acetazolamide (ACZ) CVR between transcranial ultrasonic power harmonic imaging (PHI) and color Doppler sonography (CDS), in cases ofparenchymal pathology with and without occlusive vascular lesions.

Materials And Methods: The subjects were 31 stroke patients with intraparenchymal pathologies, 15 with (occlusive group) and 16 without (non-occlusive group) occlusive carotid and/or middle cerebral artery lesions.

Quantitative evaluation of cerebrovascular reactivity in brain tissue by a refill kinetic method of transcranial ultrasonic perfusion imaging: a comparison with Doppler sonography.

Unlabelled: To confirm the reliability of a refill kinetic method of ultrasonic harmonic perfusion imaging (HPI) capable of quantifying separate parameters of microvascular blood flow velocity and volume in brain tissue, we evaluated acetazolamide (ACZ) cerebrovascular reactivity by transcranial HPI in comparison with Doppler sonography (TCD). Methods. HPI during continuous Levovist infusion with changing pulsing intervals (t) and TCD time-averaged maximum velocity (TAMX) in the middle and posterior cerebral arteries were evaluated before and after ACZ administration in 12 patients, 8 without and 4 with a temporal skull defect.

Comparison of transcranial brain tissue perfusion images between ultraharmonic, second harmonic, and power harmonic imaging.

Background And Purpose: To clarify optimal brain tissue perfusion images visualized by transcranial ultrasound harmonic imaging, we compared gray-scale integrated backscatter (IBS) images of new ultraharmonic imaging (UHI) and conventional second harmonic imaging (SHI) with power harmonic imaging (PHI) (harmonic B-mode with harmonic power Doppler images) in 10 patients with and 4 without a temporal skull.

Methods: Using a SONOS 5500 (Philips), we evaluated transient response images taken after a bolus Levovist injection at a horizontal diencephalic plane via temporal windows. Based on transmitting/receiving frequencies (MHz), 4 imaging procedures using an S3 transducer (SHI2.

Acetazolamide vasoreactivity evaluated by transcranial harmonic perfusion imaging: relationship with transcranial Doppler sonography and dynamic CT.

Unlabelled: To establish the reliability and clinical significance of transcranial ultrasonic harmonic perfusion imaging (HPI), we evaluated HPI's relationships with transcranial Doppler (TCD) and with dynamic CT (DCT), during acetazolamide (ACZ) vasoreactivity tests.

Methods: The subjects were 12 neurological patients. Time-averaged maximum velocity (TAVMX) in the middle (MCA) and posterior cerebral arteries was measured by TCD.

Acetazolamide vasoreactivity in persistent vegetative state and vascular dementia evaluated by transcranial harmonic perfusion imaging and Doppler sonography.

Unlabelled: To clarify the pathophysiological differences of the cerebrovascular reserve capacity in relation to cerebral cognitive impairments between persistent vegetative state (PVS) and vascular dementia (VD), we evaluated acetazolamide (ACZ) vasoreactivity testing by transcranial harmonic perfusion imaging (HPI) and Doppler sonography (TCD).

Methods: The subjects were 11 adult patients with severe cognitive impairments (4 PVS, 7 VD). TCD mean velocity (Vm) in the middle and posterior cerebral artery (MCA, PCA) and peak intensity (PI), area under curve (AUC), and mean transit time (MTT) analyzed by HPI time-intensity curves in the bilateral temporal lobe (TL), basal ganglia (BG), and thalamus (Th) were evaluated before and after ACZ administration.

Acetazolamide vasoreactivity in vascular dementia and persistent vegetative state evaluated by transcranial harmonic perfusion imaging and Doppler sonography.

To clarify the pathophysiological differences of the cerebrovascular reserve capacity in relation to cerebral cognitive impairments between vascular dementia (VaD) and persistent vegetative state (PVS), we evaluated acetazolamide (ACZ) vasoreactivity testing by transcranial harmonic perfusion imaging (HPI) and Doppler sonography (TCD). Sixteen patients (age: 29-85 years; mean: 62) were divided into three groups: 7 VaD, 4 PVS, and 5 nondementia patients. Mean velocity (Vm) in the middle and posterior cerebral artery (MCA, PCA) was measured, and time-intensity curves of the HPI were evaluated at three regions of interest-the bilateral temporal lobe (TL), basal ganglia (BG), and thalamus (Th).