Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0013421 (dystonia)
 8,418 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

In this case study, we describe the symptoms, neurological examination, clinical course, and neuropathology of a patient with progressive supranuclear palsy (PSP). PSP is a relatively uncommon neurodegenerative disorder with many features similar to those of Parkinson's disease. It is characterized by slow motor function, ocular movement abnormalities, dystonia, and cognitive disabilities. PSP is largely a sporadic disorder caused by accumulation of the protein tau in diverse regions of the central nervous system. It is thus classified as one of several tauopathies. The exact cause of the disease remains unknown, and treatment is often limited. The following case provides a framework to explore the manifestations of PSP, as well as the progress made in understanding the nature of this challenging disorder.
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PMID:Progressive supranuclear palsy. 1528 66

Parkinsonism, chorea, and dystonia are well-known clinical manifestations of Creutzfeldt-Jakob disease (CJD), but lesions of the nigrostriatal pathway have never been thoroughly studied. We performed a detailed neuropathologic study of the nigrostriatal pathway in 15 sporadic CJD and 2 variant CJD cases that included clinical correlations and assessment of neuron subtype loss, distribution of prion protein, alpha-synuclein, ubiquitin, and 14-3-3 aggregation. We found evidence of nigrostriatal pathway damage in these CJD cases. Dopaminergic neurons and striatal outflow neurons were markedly affected in sporadic CJD, whereas cholinergic interneurons were spared. In cases of CJD with chorea or myoclonus, there was less presynaptic dopaminergic loss than in cases of CJD with parkinsonism. The 2 variant CJD cases with parkinsonism or chorea showed severe cholinergic interneuron loss in the caudate and putamen, a pattern that differed from that found in sporadic CJD. alpha-Synuclein, ubiquitin, and 14-3-3 aggregation coexisted with prion protein aggregation, thereby generating mixed pathological features. These findings suggest a possible pathophysiological overlap of abnormal protein aggregation in CJD and Parkinson disease.
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PMID:The nigrostriatal pathway in Creutzfeldt-Jakob disease. 1953 91

BACKGROUND Creutzfeldt-Jakob disease (CJD) is a human prion disease characterized by severe and rapidly progressive fatal neurodegeneration. Currently, there is no cure for CJD, and death from CJD usually occurs within 1 year from the onset of the symptom, and the median survival time is 6 months. CASE REPORT The patient was a 63-year-old woman who presented to the hospital reporting having vertigo for the past 1 week and involuntary muscle contraction resulting in slow repetitive movement and abnormal posture for the past 3 days. A physical examination at the time of admission revealed unsteady gait, dystonia, and dysmetria of the left upper limb. There was no nystagmus on examination. Electroencephalography done on the same day showed focal epileptiform discharge on bilateral temporal lobes, which were more on the right side than the left. It also showed mild diffuse cerebral slowing. Cerebrospinal fluid analysis showed positive for RT-QulC, T tau protein, and 14-3-3. A diagnosis of CJD was made based on clinical course, imaging, and cerebrospinal fluid analysis. CONCLUSIONS The diagnosis of CJD can be suspected based on clinical signs and symptoms and can be confirmed after performing MRI, EEG, and lumbar puncture. Therefore, it is important to recognize vertigo as an unspecific symptom of CJD so that a timely diagnosis can be made and unnecessary procedures can be avoided.
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PMID:Cerebellar Vertigo as an Unspecific Initial Presentation of Creutzfeldt-Jakob Disease. 3322 15