Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0040822 (tremor)
 18,428 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

We reported a 65-year-old man whose sister was suffering from HTLV-I-associated myelopathy (HAM) and who presented slowly progressive spastic paraparesis, sensory disturbance in the feet, tremors and cerebellar ataxia. He was also positive for serum anti-HTLV-I antibody. He first showed a head tremor at the age of 3 years. He developed a spastic and ataxic gait when aged 15 years, and it became difficult for him to walk at the age of 50 years. Examination at 65 years showed a spastic and ataxic gait and scanning speech. Hyper-reflexia and Bahinski's signs were observed. Sensation in the feet was decreased. The anti-HTLV-I antibody titer in the serum was 1:512 by the PA method, and Western blot analysis revealed bands of P19, P24, P28 and P32. Examination of the cerebrospinal fluid (CSF), including oligoclonal bands, gave normal results. The CSF was negative for anti-HTLV-I antibody. CT and MRI of the head showed cerebellar atrophy. His sister was 60 years old. She had developed a spastic gait at the age of 15 years. Sensory defects and bladder dysfunction developed when aged 35 years. Hyper-reflexia, Babinski's sign and foot clonus were observed. Sensation in the feet was decreased. The urinary residual volume was increased. Ataxia was not observed. The anti-HTLV-I antibody titer in the serum was 1:8,192 by the PA method, and Western blot analysis revealed bands of p24, p28 and p32. Examination of the CSF, including oligoclonal bands, gave only normal results.(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:[Spastic paraparesis and sensory disturbance improved by prednisolone therapy]. 139 32

Connexin57 (Cx57) was previously reported in retinal cells but not in brain nerve cells. This occurrence was tested in this study, by searching for the expression of Cx57 RNA and protein transcripts during the postnatal development of the mouse CNS. Both the Cx57 RNA (investigated by reverse transcriptase-polymerase chain reaction (RT-PCR)) and the protein (Western-Blot and immunohistochemistry using a polyclonal antibody generated in chicken) transcripts were firstly expressed in the late postnatal development (P12). The expression of Cx57 in adult life (studied at P28, by in situ hybridization and immunohistochemical analysis) concerned few regions of the brain stem (inferior olive, lateral reticular nucleus and motor trigeminal nucleus), the cerebellum (Purkinje cells and cerebellar nuclei) and the spinal cord (alpha-motoneurons). Double immunohistochemical studies using the Cx57 antibody and antibodies, which specifically labelled neuronal nuclei (NeuN) and astrocyte cells glial fibrillary acidic protein (GFAP), showed the expression of Cx57 segregated in neuronal cells. The study also confirmed the expression of Cx57 in the horizontal cells of the retinal outer plexiform layer, reported in previous investigations. Given the expression of Cx57 in the cerebellum and pre-cerebellar nuclei, such as olivary and lateral reticular nuclei, a possible role of Cx57 was hypothesized in the electrical coupling of the cerebellum. This hypothesis was tested by searching for the expression of the Cx57 transcripts in the mouse cerebellum of the harmaline-tremor model. The up-regulation of the Cx57 transcripts reported in this model suggested a possible involvement of Cx57 in the electrotonic coupling of the cerebellar system.
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PMID:Expression of connexin57 in mouse development and in harmaline-tremor model. 2084 35

Focal cortical dysplasia (FCD) is an important cause of intractable epilepsy. Previous rat studies have utilized freeze lesioning of neonatal animals to model FCD; however, such models are unable to demonstrate spontaneous seizures without seizure-provoking events. Therefore, we created an animal model with multiple FCD, produced during embryonic development, and observed whether spontaneous seizures occurred. Furthermore, we examined the relationship between FCD and epileptogenesis using immunohistochemistry. At 18 days postconception, a frozen metal probe was placed bilaterally on the scalps of Sprague-Dawley rat embryos through the uterus wall to produce multiple FCD. Electroencephalogram (EEG) and video recording were performed from postnatal day (P) 35 to P77. Brain tissues were examined immunohistochemically at P28 and P78 using semiquantitative densitometry. Eleven of 16 rats (68.8%) showed spontaneous seizures arising in the hippocampus from P47. Movement cessation followed by sniffing and mastication, culminating in wet-dog shaking, was seen during the hippocampal EEG discharges. FCD was observed in the bilateral frontoparietal lobes. The expression levels of N-methyl-d-aspartate receptor (NMDAR) subunits 1, 2A, 2B, the glutamate/aspartate transporter and the glial glutamate transporter 1 (GLT1) at FCD sites were increased at P28 and P78. There were no major histological abnormalities in the hippocampi compared with those in the cortex. However, the expression levels of NMDAR 2A and 2B were increased at P28. Levels of NMDAR1, 2A and 2B, the glutamate/aspartate transporter and GLT1 were also increased at P78. We created an animal model showing spontaneous seizures without a provoking event except for the existence of cortical dysplasia, and without a genetic or general systematic cause like MAM injection or irradiation. The seizures resembled human temporal lobe epilepsy both clinically and on EEG. Alterations in the levels of glutamatergic and GABAergic receptors were investigated during growth. This model should enable better clarification of the mechanisms underlying the development of human epilepsy.
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PMID:Spontaneous seizures in a rat model of multiple prenatal freeze lesioning. 2363 21