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Biomedical subjects

H Yokoji

Publications and source records attributed to H Yokoji.

10 recordsLinked to original sources
PubMed2006

Autosomal recessive ataxia with peripheral neuropathy and elevated AFP: novel mutations in SETX.

Mutations in the Senataxin gene (SETX) are associated with autosomal recessive ataxia-ocular apraxia 2 (AOA2) and autosomal dominant juvenile ALS (ALS4). Here, the authors describe novel homozygous missense mutations in SETX, M274I, and R1294C, found in two siblings with ataxia, peripheral neuropathy, and increased serum alpha-fetoprotein level and three other siblings with heterozygous missense mutations who were neurologically asymptomatic. The results demonstrate that the double missense mutations are responsible for AOA2 but not for ALS4.

Action Potentials↗
PubMed2004

Hereditary spastic paraplegia with frontal lobe dysfunction: a clinicopathologic study.

The authors report an unusual family with hereditary spastic paraplegia (HSP) with frontal lobe dysfunction having the onset in the sixth decade. All the patients showed hypoperfusion in the frontal lobes and thalami on SPECT. Neuropathologic findings revealed thin corpus callosum and degeneration in the thalamic dorsomedial nuclei as well as degeneration of the corticospinal tracts. This family was likely affected by a novel form of HSP characterized by frontal lobe dysfunction caused by thalamic degeneration.

Adult↗
PubMed1997

[A case of malignant lymphoma with a metastasis to the lateral rectus muscle].

We reported a 75-year-old woman with malignant lymphoma who had a metastasis to the right lateral rectus muscle. She was well until two months earlier, when a tumor in the left thigh began to enlarge. Ten days before admission, she noticed medial deviation of the right eyeball. Neurological examination showed the right esotropia with isolated paralysis of the right lateral gaze. She denied double vision. MR imaging demonstrated a swelling of the right lateral rectus muscle. Gallium scanning revealed abnormal accumulation in the right orbit and the left thigh. The tumor in the left thigh was histologically diagnosed as non-Hodgkin's lymphoma, diffuse large cell type. Discrete extraocular muscle metastasis is rare and unreported for malignant lymphoma. Reported cases of breast and thyroid cancers metastatic to the extraocular muscles did not develop diplopia similar to our case. The rapid growth of metastases to the extraocular muscles produces a large visual axes deviation, therefore no diplopia may be elicited.

Aged↗
PubMed1996

Degos' disease: radiological and immunological aspects.

We present an 18-year-old patient with Degos' disease who manifested the sudden onset of paraplegia. Neurological examination revealed a rt-hemianopsia, paraparesis (with a sensory level at Th12), and a neurogenic bladder. Brain MRI showed multiple cerebral infarctions accompanied by small hemorrhagic areas and GdDTPA enhancement of the dura. A cerebral angiogram displayed stenosis, ectasia, and aneurysms involving the peripheral branch of arteries. Stenoses also were observed in the celiac artery and small arteries in the 1t-kidney. Skin biopsy exhibited hyperkeratosis, atrophy of the epidermis, and necrobiosis of the collagen layer. Laboratory examinations disclosed persistent elevations of the thrombin-antithrombin III complex (TAT), plasmin-alpha 2 plasmin inhibitor complex (PIC), and cytotoxic T cell subset (CD8+CD11-), illustrating the coagulative, fibrinolytic, and immunological implications of this disease.

Abdominal Abscess↗
PubMed1995

cDNA cloning and chromosomal localization of the human ciliary neurotrophic factor gene.

Full-length cDNA for human ciliary neurotrophic factor (CNTF) was isolated from a human sciatic nerve cDNA library. Sequence analysis revealed that the longest cDNA was comprised of a 48-bp 5'-untranslated region, a 600-bp coding region and a 1207-bp 3'-untranslated region containing four ATTTA pentamer motifs and a polyadenylation sequence. The transcription starting point was assigned at 81 bp upstream of the initiation methionine by 5' RACE analysis. Using the cDNA and genomic DNA fragment including the entire intron region as mixed probes, the human CNTF gene was localized to the long arm of chromosome 11 at region q12 by fluorescence in situ hybridization.

Chromosomes↗
PubMed1994

A null mutation in the human CNTF gene is not causally related to neurological diseases.

We report a null mutation in the human ciliary neurotrophic factor gene (CNTF). The mutated allele shows a G to A transition producing a new splice acceptor site and the resulting mRNA species codes for an aberrant protein. Analysis of tissue samples and transfection of CNTF minigenes into cultured cells demonstrates that the mutated allele expresses only the mutated mRNA species. In 391 Japanese people tested, 61.9% were normal homozygotes, 35.8% heterozygotes and 2.3% mutant homozygotes. The distribution of the three genotypes is similar in healthy and neurological disease subjects, indicating that human CNTF deficiency is not causally related to neurological diseases.

Alleles↗
PubMed1990

Shy-Drager syndrome. Effect of fludrocortisone and L-threo-3,4-dihydroxyphenylserine on the blood pressure and regional cerebral blood flow.

In nine cases of Shy-Drager syndrome, the changes in blood pressure and cerebral blood flow on sitting up from a supine position were studied. The influence of fludrocortisone, a synthetic mineralocorticoid, and L-threo-3,4-dihydroxyphenylserine (DOPS), a precursor of norepinephrine, on these changes was examined. On sitting up, the regional cerebral blood flow (rCBF) measured by Xe133 inhalation showed a tendency to decrease. Fludrocortisone reduced the fall of the mean blood pressure significantly. DOPS reduced the fall of both the diastolic blood pressure and rCBF significantly.

Administration, Oral↗
PubMed1989

[A case of cerebellar hemispheric venous malformation presenting crossed cerebello-cerebral diaschisis].

A 49-year-old man was admitted to our hospital complaining of clumsiness in his left arm and leg that had 2 months' history with subacute onset. On examination he showed left sided ataxia but no other neurological deficits. A linear lesion was demonstrated in the left cerebellar hemisphere by X-ray computed tomography and magnetic resonance imaging without apparent hemorrhage and mass effect. Digital subtraction angiography revealed a venous malformation in the left cerebellar hemisphere but carotid arteries were normal. Relative distribution of cerebral blood flow was measured using single-photon-emission-computed tomography with rotating gamma camera and 123I-IMP. Reduced uptake was observed in the right frontal lobe (-15- -30%). However, the asymmetry disappeared 8 months later. The decreased blood flow in the contralateral cerebral cortex may be due to destruction of cerebello-thalamo-cortical pathways.

Angiography, Digital Subtraction↗