Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0027066 (myoclonus)
 4,275 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Frontotemporal dementia with parkinsonism linked to chromosome 17 (FTDP-17) with mutations in the MAPT gene is a hereditary neurodegenerative tauopathy with various clinical phenotypes. We herein report the first Japanese patient with FTDP-17 caused by an IVS10+3G>A mutation in the MAPT gene, which is linked to an H1M haplotype. The present study suggests that the IVS10+3G>A mutation in the MAPT gene can have originated from a non-Caucasian population. In the disease course, myoclonus and respiratory failure can be observed. This study may expand on the clinical and genetic findings for FTDP-17 with mutations in the MAPT gene.
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PMID:Clinical and Genetic Study of the First Japanese FTDP-17 Patient with a Mutation of +3 in Intron 10 in the MAPT Gene. 3099 96

Ixodes scapularis is responsible for transmission of Borrelia burgdorferi, B. miyamotoi, Babesia microti, Anaplasma phagocytophilum and Powassan virus to humans. We present a case of an 87-year-old man who presented with fever and altered mental status. Initial workup revealed haemolytic anaemia, thrombocytopenia, mild hepatitis and acute kidney injury. Patient tested positive for B. burgdorferi and Babesia microti, and was started on doxycycline, atovaquone and azithromycin. He also underwent exchange transfusion twice. After some initial improvement, patient had acute deterioration of mental status and appearance of neurological findings like myoclonus and tremors. Therefore, testing for arboviruses was done and results were positive for Powassan virus. During a protracted course of hospitalisation, patient required intubation for respiratory failure and temporary pacemaker for unstable arrythmias from Lyme carditis. Patient developed permanent neurological deficits even after recovery from the acute illness.
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PMID:Powassan virus encephalitis, severe babesiosis and lyme carditis in a single patient. 3171 40


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