Autosomal Recessive Spinocerebellar Ataxia Type 10: A Report of a New Case in Japan.

Autosomal recessive spinocerebellar ataxia of type 10 (SCAR10) is a very rare neurodegenerative disease caused by mutations in the TMEM16K (ANO10) gene. This disorder is characterized by slowly progressive cerebellar ataxia and pyramidal signs inconstantly associated with cognitive decline, polyneuropathy, epilepsy, and vesicorectal dysfunction. To date, more than 40 cases have been reported in Europe.

Brain TDP-43 pathology in corticobasal degeneration: Topographical correlation with neuronal loss.

Aims: Neuronal and glial inclusions comprising transactive response DNA-binding protein of 43 kDa (TDP-43) have been identified in the brains of patients with corticobasal degeneration (CBD), and a possible correlation between the presence of these inclusions and clinical phenotypes has been speculated. However, the significance of TDP-43 pathology in the pathomechanism of CBD has remained unclear. Here, we investigated the topographical relationship between TDP-43 inclusions and neuronal loss in CBD.

Parkinson's disease and parkinsonism: Clinicopathological discrepancies on diagnosis in three patients.

Parkinson's disease (PD) is one of the most common neurodegenerative disorders. The cardinal neuropathological features of PD include selective and progressive loss of pigmented neurons in the substantia nigra, deficiencies in dopaminergic signaling in the striatum, and occurrence of phosphorylated α-synuclein-identified Lewy bodies in the nervous system. Parkinsonism, the clinical presentation of movement disorders seen in PD, is a feature shared commonly by other pathologically distinct neurodegenerative diseases, such as progressive supranuclear palsy (PSP), corticobasal degeneration (CBD), and multiple system atrophy (MSA).

Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay without Spasticity.

Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) is a rare progressive neurodegenerative disease caused by either homozygous or compound heterozygous mutations in the SACS gene. The original ARSACS cases found in Quebec showed very homogenous phenotypes characterized by cerebellar ataxia, spasticity, and polyneuropathy. However, many cases with atypical phenotypes have been found in other regions and ethnic groups.

Genetic Variations and Neuropathologic Features of Patients with PRKN Mutations.

Background: Mutations in PRKN are the most common cause of autosomal recessive juvenile parkinsonism. The objective of this study was to investigate the association between genotype and pathology in patients with PRKN mutations.

Methods: We performed a sequence and copy number variation analysis of PRKN, mRNA transcripts, Parkin protein expression, and neuropathology in 8 autopsied patients.

T300A variant of AT16L1 gene in a cohort of Algerian Crohn disease patients.

The T300A variant is among the most Crohn's disease (CD) associated genetic variants. The aim of our study is to bring a first insight about the contribution of the T300A variant in a cohort of Algerian CD. In a case/control design, 118 Algerian CD patients and 161 unrelated healthy subjects were genotyped for the T300A variant using the allelic discrimination test by Applied Biosystems Taqman genotyping technology.

Abnormal distribution of GABA receptors in brain of duchenne muscular dystrophy patients.

Introduction: In this study we sought to: (1) determine the distribution of GABA receptors (GABA -Rs) in the brain of Duchenne muscular dystrophy (DMD) patients; and (2) ascertain if the distribution pattern correlates with cognitive dysfunction.

Methods: Fourteen DMD patients [young adult (n = 7, 18-25 years old) and older adult (n = 7, 30-37 years old) groups] and 16 age-matched normal volunteers participated. GABA -R distribution was assessed using I-IMZ-SPECT.

Pathology and sensitivity of current clinical criteria in corticobasal syndrome.

The aim of this study was to investigate corticobasal syndrome with respect to underlying pathologies, the ability of current clinical criteria to detect early stages of disease, and symptoms and signs predicting background pathologies. We retrospectively analyzed the clinicopathological findings from patients with corticobasal syndrome. We also analyzed whether those findings fulfilled the diagnostic criteria for corticobasal degeneration (CBD).

Progressive myoclonus epilepsy: extraneuronal brown pigment deposition and system neurodegeneration in the brains of Japanese patients with novel SCARB2 mutations.

Aims: Mutations in the SCARB2 gene cause a rare autosomal recessive disease, progressive myoclonus epilepsy (PME) with or without renal failure, the former also being designated action myoclonus-renal failure syndrome. Although reported cases have been accumulating, only a few have described its neuropathology. We studied two Japanese patients with PME without renal failure, in whom the ages at onset and disease durations were 45 and 20 years, and 14 and 8.

Prognostic impact of left ventricular noncompaction in patients with Duchenne/Becker muscular dystrophy--prospective multicenter cohort study.

Background: The reported prevalence of left ventricular noncompaction (LVNC) varies widely and its prognostic impact remains controversial. We sought to clarify the prevalence and prognostic impact of LVNC in patients with Duchenne/Becker muscular dystrophy (DMD/BMD).

Methods: We evaluated the presence of LNVC in patients with DMD/BMD aged 4-64 years old at the study entry (from July 2007 to December 2008) and prospectively followed-up their subsequent courses (n=186).

Dementia and delirium in 4 patients with Machado-Joseph disease.

Background: Machado-Joseph disease (MJD; spinocerebellar ataxia type 3) is a hereditary neurodegenerative disease caused by mutation of the MJD1 gene. Patients with MJD usually present with cerebellar ataxia, external ophthalmoplegia, pyramidal and extrapyramidal signs, and muscle wasting. However, it has been reported that these patients do not demonstrate dementia.

Cerebellar cortical tau pathology in progressive supranuclear palsy and corticobasal degeneration.

Immunohistochemical localization of tau in the cerebellar cortex was carried out using a mouse monoclonal antibody against phosphorylation-dependent tau (AT8) in brain tissue (cerebellum) from 13 patients with progressive supranuclear palsy (PSP), 7 patients with corticobasal degeneration (CBD) and 5 age-matched control subjects. Purkinje cell somata that showed diffuse granular accumulation of cytoplasmic tau were found occasionally in 9 of the 13 patients with PSP (69%) and in 4 of the 7 patients with CBD (57%). Tau-positive doughnut-shaped structures were also found occasionally in the cerebellar molecular layer in 6 of the 13 patients with PSP (46%) and 2 of the 7 patients with CBD (29%).

[An early-onset case of acute disseminated encephalomyelitis with bilateral thalamic lesions on MRI].

We report the case of 5-year-old girl with acute disseminated encephalomyelitis (ADEM), whose MRI showed bilateral thalamic lesions. She suffered from left optic neuritis and generalized convulsion. Examination of cerebrospinal fluid revealed elevation of mononuclear cells and myelin basic protein (MBP).

[5-FU concentrations in the blood and tumor tissue after 5'-DFUR or UFT administration in the patients with uterine cervical cancer].

In order to verify the antitumor activity of fluorinated pyrimidine drugs, we conducted an investigation of the clinical pharmacology with two drugs, 5'-DFUR and UFT. Total 21 cases of cervical cancer were alloted randomly into 5'-DFUR group (daily dose 800 mg for 3 days) consisting of 11 patients and UFT group (daily dose 600 mg for 3 days) consisting of 10 patients, the unchanged substances (5'-DFUR in the 5'-DFUR group and tegafur concentrations in the UFT group) and 5-FU concentrations in serum and tissues were measured 6 hours after administration of the drugs. The 5'-DFUR concentration in the 5'-DFUR group was not detected in serum and less than a detectable limit for all of cancerous tissues, normal cervical tissues, and lymph nodes.

Macrophage colony-stimulating factor enhances platelet recovery following cisplatin/carboplatin chemotherapy in ovarian cancer.

To assess the effects of macrophage colony-stimulating factor (M-CSF) on platelet recovery in patients given chemotherapy for advanced and recurrent ovarian cancer, we selected 29 cases treated with carboplatin (280 mg/m2, Day 1) and cisplatin (70 mg/m2, Day 2). We evaluated the response and the platelet recovery effects of M-CSF, which was infused intravenously for 7 consecutive days after the second and fourth courses of chemotherapy. For the 54 courses of M-CSF infusion, the platelet nadir averaged 12.

Macrophage colony-stimulating factor as a tumor marker for epithelial ovarian cancer.

Objective: To determine the serum level of macrophage colony-stimulating factor in ovarian cancer patients in order to evaluate its role as a marker for ovarian cancer.

Methods: Serum macrophage colony-stimulating factor levels were assayed in 69 patients with epithelial ovarian cancer, 55 with benign ovarian tumors, and 634 healthy individuals, including 398 women, using an enzyme-linked immunosorbent assay.

Results: The average serum macrophage colony-stimulating factor level was 754.

Effect of cyclic cisplatin and etoposide therapy with continuous UFT administration on the recurrence of endometrial cancer in nude mice.

Effects of cisplatin and etoposide chemotherapy and/or continuous administration of oral anticancer agent UFT following the initial chemotherapy with cisplatin and etoposide on the tumor recurrence rate were studied in endometrial cancer-bearing mice. Complete response (CR) rate of cyclic administration of cisplatin and etoposide (91%) was significantly higher than that in the control group (60%; p < 0.05).

Anticancer activity of the combination of cisplatin and etoposide in endometrial cancer-bearing nude mice.

We investigated the efficacy of the combination of cisplatin and etoposide in endometrial cancer using mice bearing human endometrial cancer. Cisplatin (5 mg/kg) plus etoposide (10 mg/kg) caused markedly greater inhibition of the growth of medium-sized tumors (96.1% inhibition) than cisplatin alone at the same dose.

[The study on the immunological effect of sizofilan combined with radiotherapy in patients with uterine cervical cancer].

To investigate the immunological effect of Sizofilan (SPG) combined with radiotherapy, we evaluated the immunological parameters in 22 patients with uterine cervical cancers. Twelve cases were treated with SPG combined with radiotherapy (SPG group), and the other ten cases, with radiotherapy only (control group). As a result, 1) During radiotherapy, the numbers of lymphocyte and CD2 positive cell decreased in SPG and control groups.

[Clinical value of a new serum tumor marker CA602 in ovarian cancers].

We investigated the usefulness of CA602, a newly developed serum tumor marker, for ovarian cancer. When the cut-off value was set at 60 U/ml, the overall positive rate of this marker in ovarian cancer was 92%, a slightly high rate relative to CA125 measured at the same time (88%). Considering tumor histology, CA602 revealed a high positive rate of 100% in serous adenocarcinoma, whereas the positive rate was 67% in mucinous adenocarcinoma.

[Responsiveness of gynecological malignancies to oral antitumor agents in subrenal capsule assay and individualization of oral adjuvant chemotherapy].

A subrenal capsule assay (SRCA) was performed to test the sensitivity of 45 gynecological malignancies, including 24 cervical and 15 ovarian carcinomas, to oral antitumor agents, UFT, cyclophosphamide (CPM) and carboquone (CQ). Additionally, using a human endometrial carcinoma (Ishikawa carcinoma), the utility of SRCA in oral adjuvant chemotherapy was also investigated. Thirty-six of 45 cases (80.