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Biomedical subjects

Kenji Nakashima

Publications and source records attributed to Kenji Nakashima.

81 records · Page 5Linked to original sources

Genetic analysis of vascular factors in Alzheimer's disease.

Genetic risk factors for Alzheimer's disease (AD) have been extensively examined. Several risk factors for AD are shared with vascular dementia (VaD). We performed genetic case-control studies on polymorphisms of the apolipoprotein E (ApoE) gene, the methylene tetrahydrofolate reductase (MTHFR) gene, and the angiotensin-converting enzyme (ACE) gene. The most acceptable genetic risk factor for the development of AD is the ApoE epsilon-4 (ApoE epsilon4) allele. ApoE promoter polymorphisms have also been reported to be associated with AD. As expected, the ApoE epsilon4 allele had strong association with AD in our samples. The ApoE epsilon4 allele was also estimated as a risk factor for VaD. An ApoE promoter polymorphism (-291T/G) did not show positive association with AD or any other diseases. Common MTHFR phenotypes are thought to genetically regulate blood homocysteine level, which has been associated with AD. We failed to show independent associations between AD and the common MTHFR polymorphisms (C677T and A1298C). A deletion polymorphism at intron 16 of the ACE gene has also been associated with AD. In our study, we found a significant ethnic difference of the genotype distribution, but failed to replicate the positive association between the I allele and AD.

Alleles↗

[A case of Parkinson's disease associated with pyogenic spondylitis in the cervical vertebrae].

A 68-year-old woman with Parkinson's disease (PD) was admitted due to aspiration pneumonia. The symptoms improved partly by administration of antimicrobial agents and a steroid-pulse treatment, but she suffered repeated MRSA pneumonia, which caused a long-term bed confinement. Shoulder pain that appeared after she started rehabilitation did not improve on administration of NSAIDs. We suspected pyogenic spondylitis in the cervical vertebraes based on the cervical X-rays and the cervical MRI. Patients of PD often have a shoulder pain due to various causes. When a patient with PD has a severe shoulder pain, we should suspect pyogenic spondylitis in the cervical vertebraes as one of the differential diagnoses. It is necessary to do immediately thorough imaging examinations.

Aged↗

[Hemicrania continua: the first Japanese case report].

A 47-year-old woman suffered from strictly unilateral headache, characterized by "jabs and jolts" and a pressing quality in temporal-parietal regions on her left side. Her headache was continuous. The pain from her headache was severe enough to prohibit her daily activities and fluctuated from moderate to severe during the daytime. After treatment with a 75 mg daily dose of indomethacin, her headache was completely resolved. Where patients with chronic daily headaches are unresponsive to standard therapies, a trial of indomethacin is warranted.

Anti-Inflammatory Agents, Non-Steroidal↗

[A case of pseudomigraine with pleocytosis].

We report a case of pseudomigraine with pleocytosis (PMP) characterized by temporary neurological deficits and elevated cell counts in cerebrospinal fluid (CSF). A 28-year-old woman was admitted to our hospital with a second episode of right side throbbing headache accompanied by hemianopsia without scintillating scotoma of left side, hand numbness and weakness of left hand. Two months before the admission, she experienced a first identical episode, which lasted several hours. On admission to our hospital, neurological examination showed left hemianopsia, mild left hemiparesis, dysesthesia of left hand, exceeded tendon reflex of left upper limb, stiff-neck and positive Kerning's sign. CSF examination showed mild elevation of mononuclear cell counts. No abnormal findings on brain CT and MRI (including diffusion weighted image) were observed. 99mTc-HMPAO single photon emission computed tomography (SPECT) demonstrated extensive hypoperfusion at right cerebral hemisphere, corresponding to her neurological deficits. Her electroencephalography (EEG) showed reduced amplitude on the right occipital area. The reduced amplitude of cortical component of somatosensory evoked potential (SEP) by left median nerve stimulation were observed. On the third day after the admission, her symptoms improved and cell count of CSF was normalized. One week after the onset her SEP, EEG and SPECT were normalized on their retrials. She has never recurred these symptoms. We established a diagnosed of psedomigraine with pleocytosis as the first Japanese case.

Adult↗

[A young adult case of spontaneous basilar artery dissection].

We reported a case of basilar artery dissection in a 20-year-old man suffering sudden onset of consciousness disturbance. Brain CT revealed a cerebral infarction of the whole territories of vertebro-basilar artery and his 3DCT showed the occlusion at the base of basilar artery. Autopsy revealed that the subintimal dissection was found at the base of basilar artery and the dissection was spreaded to the distal of bilateral posterior cerebral arteries. The characteristics of his vertebro-basilar artery were small in diameter, thin media and thickened intima. According to these findings, we supposed this rare case of basilar dissection occurred all at once based on a functional abnormality in his small vertebro-basilar arterial wall.

Adult↗

[Corticobasal degeneration and progressive supranuclear palsy--biochemical marker].

The diagnostic significance of tau proteins in cerebrospinal fluids (CSF) has been described in many cases of dementia of Alzheimer type (AD). However, in patients with other diseases showing neurofibrillary tangles (NFT) similar to those in AD, tau proteins in cerebrospinal fluids have not been rigorously investigated. In particular, differentiating corticobasal degeneration (CBD) and progressive supranuclear palsy (PSP) is clinically and pathologically difficult, and a useful biochemical marker to discriminate these two diseases has been a subjects of clinical interest. Therefore, we examined the usefulness of CSF tau and amyloid beta (A beta) proteins for the differentiation between CBD and PSP. CSF total tau (t-tau) and A beta proteins were measured with the sandwich ELISA method (Innogenetics, Belgium). CSF tau protein phosphorylated at serine 199 (p-tau) was measured by a recent established sandwich ELISA (Mitsubishi Chemical Co.). In conclusion, measurement of tau protein levels in CSF may be useful for the differential diagnosis of CBD from PSP. We also suggest that CSF p-tau may be a better biochemical marker than CSF t-tau.

Aged↗

Cerebrospinal fluid tau in dementia disorders: a large scale multicenter study by a Japanese study group.

A large scale multicenter study of cerebrospinal fluid (CSF) tau levels was conducted to determine the cut-off value, sensitivity and specificity for clinical usage as a biomarker of Alzheimer's disease (AD). Its use for early and differential diagnosis and the factors that increase CSF tau levels were also examined. CSF samples from a total of 1,031 subjects including 366 patients with AD, 168 patients with non-Alzheimer type dementia (NA), 316 patients with non-dementia neurological diseases (ND) and 181 normal controls (NC) were measured using ELISA for tau. The cut-off value of tau, 375 pg/ml, showed 59.1% sensitivity and 89.5% specificity for diagnosis of AD compared with the other groups. The tau levels were increased from the early to late stages of AD. Elevation of CSF tau in the non-tauopathy and tauopathy dementia groups, chronic and acute damage to the cerebrum, and meningeal disturbance were other factors that required attention for clinical practice. Measurement of CSF tau was useful as a biomarker for early and differential diagnosis of AD.

Adolescent↗

An epidemiological genetic study of Charcot-Marie-Tooth disease in Western Japan.

We identify the prevalence and genetic features of Charcot-Marie-Tooth disease (CMT) in Yonago and Sakaiminato, western Japan. From information in registered records and questionnaires, definite or candidate CMT patients were examined. Eleven families with 19 patients (7 female and 12 male) were identified and the prevalence was 10.8 per 100,000 in April 2000. Eleven patients in 6 families showed a Thr124Met mutation of the MPZ gene, in 2 families duplication of the PMP22 gene was suggested and no abnormalities were found in 2 families. To identify the occurrence of mildly affected CMT, the exhaustive region-matched and family study was necessary.

Adult↗