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Atsuko Noguchi

Publications and source records attributed to Atsuko Noguchi.

5 recordsLinked to original sources
PubMed2006

Niemann-Pick disease type C: cataplexy and hypocretin in cerebrospinal fluid.

Niemann-Pick disease type C (NPC) is an inherited lipid storage disorder, characterized by a defect in intracellular trafficking of exogenous cholesterol that leads to the lysosomal accumulation of unesterified cholesterol. We report a Japanese patient with NPC caused by a homozygous c.2974 G > T mutation of the NPC1 gene, which predicts a glycine (GGG) to tryptophan (TGG) change at codon 992 (designated as p.G992W). This is a well-known NPC1 gene mutation that causes a unique phenotype of NPC, which has been limited to a single Acadian ancestor in Nova Scotia, Canada. Our patient characteristically started presenting with cataplexy at the age of 9 years. Recent studies have shown reduced hypocretin-1 levels in the cerebrospinal fluid (CSF) of narcoleptic patients with cataplexy. In our patient, the level of hypocretin-1 was determined as moderately low, 174 pg/ml (normal, > 200 pg/ml). To date, CSF levels of hypocretin-1 have been determined by using an identical assay method in 7 cases of NPC, including our case. All of the NPC cases with cataplexy demonstrated low levels of CSF hypocretin-1, confirming the association of reduced CSF hypocretin-1 levels with cataplexy in NPC.

Carrier Proteins↗
PubMed2006

Split notochord syndrome: ileal duplication causing intermittent episodes of vomiting.

Split notochord syndrome is a group of developmental abnormalities caused by abnormal splitting or deviation of the notochord, clinically resulting in the duplicated bowel associated with vertebral anomalies. In this syndrome, initial presentations due to duplicated bowel, vomiting, abdominal pain, and failure to thrive, usually occur before 1 year of age. We here report a 12-year-old boy with intermittent vomiting, previously diagnosed with cyclic vomiting syndrome. On abdominal x-ray examination, a defect in the closure of posterior vertebral arches was observed in the 5th lumbar vertebral body, indicating the complication of spina bifida occulta. This finding suggested the diagnosis of split notochord syndrome. A magnetic resonance imaging study revealed a cystic mass lesion in the pelvic cavity. (99m)Tc-pertechnetate scintigraphy, which is frequently used to detect ectopic gastric mucosa for the diagnosis of Meckel's diverticulum, showed a positive spot corresponding to the cystic mass lesion. Surgical resection of the cystic mass lesion demonstrated ileal duplication with ectopic gastric mucosa. Surgical findings suggest that symptoms of the patient were due to ulceration, inflammation, or bleeding caused by acid-peptic juice secreted from ectopic gastric mucosa. Duplication of the alimentary tract should be considered as a possible cause in patients with symptoms suggesting cyclic vomiting syndrome.

Child↗
PubMed2005

Stroke-like episode involving a cerebral artery in a patient with MELAS.

This report describes a patient with mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes who exhibited a segmental vascular narrowing in the crural segment of the right posterior cerebral artery by magnetic imaging angiography in the acute phase of the first stroke-like episode. The vascular stenosis almost improved on the subsequent neuroimaging study. This result suggested that major cerebral arteries might be occasionally involved in a stroke-like episode in MELAS (mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes).

Cerebral Arteries↗
PubMed2002

Five novel SLC7A7 variants and y+L gene-expression pattern in cultured lymphoblasts from Japanese patients with lysinuric protein intolerance.

Two distinct human light subunits of the heteromeric amino acid transporter, y+LAT-1 coded by SLC7A7 and y+LAT-2 coded by SLC7A6, are both known to induce transport system y+L activity. SLC7A7 has already been identified as the gene responsible for lysinuric protein intolerance (LPI). We successfully identified five novel SLC7A7 variants (S238F, S489P, 1630delC, 1673delG, and IVS3-IVS5del9.7kb) in Japanese patients with LPI by PCR amplification and direct DNA sequencing. In addition, we performed a semi-quantitative expression analysis of SLC7A7 and SLC7A6 in human tissue. In normal tissue, the gene-expression ratio of SLC7A6 to SLC7A7 was high in the brain, muscle, and cultured skin fibroblasts; low in the kidneys and small intestine; and at an intermediate level in peripheral blood leukocytes, the lungs, and cultured lymphoblasts. The gene-expression ratio of SLC7A6 to SLC7A7 in cultured lymphoblasts was significantly different between normal subjects and LPI patients with R410X and/or S238F, where the relative amount of SLC7A7 mRNA was significantly lower and the relative amount of SLC7A6 mRNA was statistically higher in affected lymphoblasts than in normal cells. Expression of SLC7A7 and SLC7A6 may thus be interrelated in cultured lymphoblasts.

Adolescent↗