Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UNIPROT:P50583 (asymmetrical)
 12,197 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A patient with supranuclear upward gaze palsy, pseudobulbar palsy, dementia, asymmetrical pyramidal signs, and atypical parkinsonism that developed after recurrent strokes was reported. The clinical features closely resembled idiopathic progressive supranuclear palsy (PSP). Computerised tomography of the brain showed, in addition to dilated third ventricle and prominent quadrigeminal plate and ambient cisterns, multiple infarcts at the thalamus, striatum, frontal subcortex and corona radiata. Multi-infarct PSP (MI-PSP) was thought to be the most likely diagnosis rather than coincidental idiopathic PSP with recurrent cerebral infarcts.
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PMID:Multi-infarct progressive supranuclear palsy--case report. 217 61

The association of brain malformations and symptomatic epilepsy in the setting of neurofibromatosis type 1 (NF1) is rarely reported. When it occurs, patients can present clinically with infantile spasms, focal seizures, generalized tonic clonic seizures or atypical absences. We report on a 10-year-old (molecularly proven) NF1 girl manifesting a complex epileptic syndrome resembling the Foix-Chavany-Marie spectrum (also known as opercular syndrome) associated with bilateral (opercular and paracentral lobular) polymicrogyria (PMG). Anecdotal cases of unilateral PMG in the setting of NF1 have been described in association with other-than-opercular epileptic syndromes. The typical clinical opercular syndrome consisting in mild mental retardation, epilepsy and pseudobulbar palsy is usually associated to bilateral perisylvian PMG (BPP) CONCLUSION: To the best of our knowledge, the complex epileptic syndrome hereby reported has not been previously recorded in the setting of NF1. In addition, the present girl manifested all the clinical features of an opercular syndrome but had an asymmetrical PMG (not a BPP).
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PMID:Complex epileptic (Foix-Chavany-Marie like) syndrome in a child with neurofibromatosis type 1 (NF1) and bilateral (opercular and paracentral) polymicrogyria. 1914 Nov 42