Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0233565 (bradykinesia)
 2,352 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A 75-year-old woman with unremarkable medical history, consulted for a 5-month history of involuntary shaking of left upper limb. Clinical examination revealed polyminimyoclonus of the upper limbs with cogwheel-like rigidity, hyperreflexia, bradykinesia, inconstant spastic-like rigidity in the lower limbs and a stiff and cautious gait. These symptoms, together with the memory impairment found on neuropsychological assessment yielded suspicion for a subacute encephalopathy probably due to a non-conventional infectious agent. There was no 14-3-3 protein found in the cerebrospinal fluid and no periodic sharp wave complexes on EEG. These findings made the diagnosis of Creutzfeldt-Jakob disease (CJD) rather unlikely according to the current WHO diagnostic criteria. However, typical isolated cortical hyperintensity of right temporal, parietal and occipital lobes on MRI suggested a probable CJD and prompted cerebral biopsy which confirmed the diagnosis. This article emphasises the need to update the current WHO criteria by including radiological findings.
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PMID:Illustrating the relevance of updated diagnostic criteria for sporadic Creutzfeldt-Jakob disease: a teaching neurocase. 2398 53

Abstract Here, we reported a Chinese case of Creutzfeldt-Jakob disease (CJD) with a rare mutation in the prion protein gene (PRNP) leading to an exchange of amino acid from valine (V) to isoleucine (I) at codon 180 (V180I). The 72 year-old Chinese women started with gradual memory loss. On admission, she did not present special abnormality during clinical examinations except bradykinesia in her lower extremities. Myoclonic jerks and increased muscle tone were noticed 3 months after the onset. No periodic activity was recorded at electroencephalography (EEG) and 14-3-3 protein was negative in the cerebrospinal fluid (CSF) sample. Brain diffusion weighted images (DWI) demonstrated high signal intensities in bilateral frontal, parietal, temporal and occipital cortices, especially on the left hemisphere, and high signal intensities were also seen in the left caudate nucleus and the putamen. The patient had no family history of similar symptoms. Her general condition was gradually deteriorative, but the patient was still alive when we performed the follow-up 12 months after onset.
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PMID:Rare V180I mutation in PRNP gene of a Chinese patient with Creutzfeldt-Jakob disease. 2548

Primary central nervous system lymphoma (PCNSL) is a rare neoplasm with an incidence of 2 to 3% of all CNS malignancies. The diagnosis can be challenging, especially with atypical presentations. Movement disorders can be one of the rare presentations of PCNSL. Here, we present an unusual case of gradually progressing Parkinsonism with an elevation of cerebrospinal fluid (CSF) 14-3-3 protein and atypical imaging findings found to have PCNSL. A 76-year-old female patient presented with gait and intermittent speech difficulty. Initial workup revealed a contrast-enhancing lesion in the bilateral putamen and head of caudate without any mass effect. Her symptoms were rapidly progressed over 6 months and presented with mild dysarthria, bradykinesia, mild rigidity, and reduced left arm swinging. These features were consistent with Parkinsonism. The repeat imaging showed the progression of hyperintensities in the bilateral putamen. The patient underwent a stereotypic biopsy of the right caudate nucleus, which revealed PCNSL. She was treated with high-dose methotrexate and is currently in remission. Diagnosis of movement disorders remains clinical and rapid progression of symptoms, and atypical presentation must warrant further imaging and workup.
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PMID:Primary Central Nervous System Lymphoma Presenting as Parkinsonism with Atypical MRI Findings and Elevated 14-3-3 Protein. 3275 21