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)

A case of subacute sclerosing panencephalitis (SSPE) was reported. The patient was a 16-year-old boy and he initially developed visual disturbance. His neurologic symptoms were myoclonus, dementia, and visual disturbance which was rare as an initial symptom in SSPE. Fundoscopy revealed bilateral pole chorioretinitis and macular degeneration. Serial MRI study demonstrated the lesions in the brain and right eye ball. The distribution varied as time went on. T2-weighted MR images showed the lesions more clearly than T1-weighted MR images. In this case dementia was marked but the lesions in the cerebrum on the MR images were considerably smaller than expected. Although MR image is useful to show the lesions, the discrepancy between clinical signs and MR images may be present in the early stage in SSPE.
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PMID:[A case of SSPE presenting visual disturbance and serial MRI study]. 139 26

We describe a 36-year-old man with subacute sclerosing panencephalitis (SSPE) presenting with chorioretinitis two years before onset of other neurological features. He had neither myoclonus nor the typical EEG features of SSPE. The diagnosis was confirmed in the appropriate clinical setting by detecting elevated measles antibody titres in cerebrospinal fluid and serum. Clinicians should consider SSPE among the differential diagnoses in chorioretinitis. This is particularly so if there is macular or perimacular involvement with concurrent involvement of the optic nerve in young patients, even without other characteristic neurological symptoms.
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PMID:Chorioretinitis: a potential clue to the early diagnosis of subacute sclerosing panencephalitis. 2851 8

Subacute sclerosing panencephalitis (SSPE) is a slowly progressive brain disorder caused by mutant measles virus. SSPE affects younger age groups. SSPE incidence is proportional to that of measles. High-income countries have seen substantial decline in SSPE incidence following universal vaccination against measles. SSPE virus differs from wild measles virus. Measles virus genome recovered from the autopsied brain tissues demonstrates clustered mutations in virus genome particularly in the M gene. These mutations destroy the structure and functioning of the encoded proteins. Complete infectious virus particle has rarely been recovered from the brain. Human neurons lack required receptor for entry of measles virus inside the neurons. Recent in vitro studies suggest that mutations in F protein confer hyperfusogenic properties to measles virus facilitating transneuronal viral spread. The inflammatory response in the brain leads to extensive tissue damage. Clinically, SSPE is characterized by florid panencephalitis. Clinically, SSPE is characterized by cognitive decline, periodic myoclonus, gait abnormalities, vision loss, and ultimately to a vegetative state. Chorioretinitis is a common ocular abnormality. Electroencephalography (EEG) shows characteristic periodic discharges. Neuroimaging demonstrates periventricular white matter signal abnormalities. In advanced stages, there is marked cerebral atrophy. Definitive diagnosis requires demonstration of elevated measles antibody titers in cerebrospinal fluid (CSF). Many drugs have been used to stabilize the course of the disease but without evidence from randomized clinical trials. Six percent of patients may experience prolonged spontaneous remission. Fusion inhibitor peptide may, in the future, be exploited to treat SSPE. A universal vaccination against measles is the only proven way to tackle this menace currently.
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PMID:Subacute sclerosing panencephalitis. 3123 61