Learn More
Mutations in the mitofusin 2 (MFN2) gene, which encodes a mitochondrial GTPase mitofusin protein, have recently been reported to cause both Charcot-Marie-Tooth 2A (CMT2A) and hereditary motor and sensory neuropathy VI (HMSN VI). It is well known that HMSN VI is an axonal CMT neuropathy with optic atrophy. However, the differences between CMT2A and HMSN VI(More)
Presently, co-culture of human umbilical cord blood mesenchymal stem cells (hUCB-MSCs) with BV2 microglia under amyloid-β42 (Aβ42) exposure induced a reduction of Aβ42 in the medium as well as an overexpression of the Aβ-degrading enzyme neprilysin (NEP) in microglia. Cytokine array examinations of co-cultured media revealed elevated release of soluble(More)
Tc-99m HMPAO brain SPECT was performed in a patient who had partial complex seizures for 1 year after successful acyclovir treatment of biopsy-proven herpes simplex encephalitis 2 years earlier. In spite of antiepileptic medications, her seizures were intractable and occurred daily. Tc-99m HMPAO was administered intravenously while she was having(More)
During mutational analysis of Charcot-Marie-Tooth (CMT) causative genes, we identified a CMT family with two missense mutations in different genes. A R359W mutation in EGR2 was shared by the affected daughter (proband) and her father. In addition, she had a V136A mutation in GJB1, which was determined to be a de novo mutation. The daughter with two(More)
A patient developed visual hallucinations following a left-sided cerebrovascular accident (CVA). Brain SPECT using Tc-99m HMPAO demonstrated increased perfusion at the biparieto-occipital lobes. Following antiepileptic medication, repeat brain SPECT showed interval decrease in perfusion in the same areas with the symptomatic relief of hallucinatory episode.(More)
Although the red nucleus often has been suggested to be the lesion site responsible for Claude's syndrome, the precise localization of the syndrome is uncertain. Lesion sites were reviewed in six patients with Claude's syndrome and compared with other patients with the syndrome identified by a literature search. The findings strongly suggest that Claude's(More)
Charcot-Marie-Tooth disease type 1A (CMT1A) is the more frequent cause of demyelinating CMT, and CMT2A is the most common cause of axonal CMT. We conducted a magnetic resonance imaging (MRI) study on 39 CMT1A and 21 CMT2A patients to compare their neuroimaging patterns and correlate with clinical features. CMT1A patients showed selective fatty infiltration(More)
Phosphorylation of eukaryotic initiation factor-2 alpha (eIF2 alpha) is increased in Alzheimer's disease (AD) and this protein can be phosphorylated by several kinases, including double-stranded RNA-dependent protein kinase (PKR), PKR-like endoplasmic reticulum kinase (PERK), amino acids-regulated eIF2 alpha kinase (GCN2) and heme-regulated eIF2 alpha(More)
BACKGROUND AND PURPOSE Detection of underlying tumor in patients with unknown-origin acute ICH may be difficult because acute hematoma may mask enhancement of tumor on postcontrast CT. We intended to investigate the clinical utility of DECT in differentiating tumor bleeding from pure ICH. MATERIALS AND METHODS Using a dual-source CT scanner, we obtained(More)