Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0003635 (apraxia)
 2,817 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

We report a case of a rapidly progressive central nervous system disorder, in which the outstanding clinical features were ocular motor apraxia and a pallidal posture. The etiology remains unknown except for the possibility of post-influenza immunization encephalopathy.
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PMID:A case of a rapidly progressive central nervous system disorder manifesting as a pallidal posture and ocular motor apraxia. 406 85

Two cases of a 13-year-old girl and a 14-year-old boy with postinfectious focal encephalitis due to influenza are reported. The clinical and magnetic resonance imaging (MRI) findings included: (1) partial motor seizures as the initial central nervous system manifestation, appearing more than 20 days after the influenzal infection, (2) no change in the level of consciousness although a boy demonstrated apraxia, and (3) high signal intensity lesions noticed with T2-weighted MRI located mainly in the cortex. The girl's lesion appeared to resolve within 10 days on MRI, while that of the boy (demonstrated in the thalamus on a third MRI) resolved within 1 week. However, a new lesion appeared in the cortex approximately 1 month later, that was visualized on a fourth MRI. Small gadolinium-enhanced lesions also were noticed during earlier stages in both patients. The pathogenesis of these MRI lesions is unknown, but the coexistence of small enhancing lesions, rapidly resolving lesions, and the elevated thrombin anti-thrombin III complexes, may indicate the presence of an angiopathy. Serial MRI examinations in patients with postinfectious encephalitis may lead to a better understanding of the pathogenesis of this disorder.
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PMID:Serial magnetic resonance imaging in post-infectious focal encephalitis due to influenza virus. 756 51

The 53-year-old woman was initially diagnosed with multiple sclerosis, despite the fact that she did not really meet the clinical criteria. Her only symptoms were clumsiness and weakness of the right extremities. Being a veterinary research worker she had been exposed to infectious material. In 1995, she was diagnosed with ELISA as having toxoplasmosis and treated as such. In 2002, after the infectious, flu-like disease, she revealed arthritis and drowsiness, also with memory and language impairment. The patient continued to have symptoms consistent with previously examined clumsiness. She was diagnosed with Lyme via ELISA and PCR, and treated. She made a full recovery from acute symptoms. After a few months, neurological and neuropsychological examinations were performed. On the background of mild cognitive decline apraxia and difficulties of attention were noted as the main problems. A apraxia of the right hand complicated the patient's life and depreciated her quality of life. The patient underwent MRI examination. FSE, FAST and FLAIR sequences were made. The MRI demonstrated the appearance of several small hyperintense lesions in the white matter of the left and right frontal and left parietal lobe. These lesions were typical of the post-inflammatory leucoencephalopathy. Additionally, a ring-shaped, low-intensity lesion in the posterior part of the left parietal lobe was noticed. The lesion was 8 mm in diameter and described to be an old toxoplasmosis lesion. The patient had been treated and the symptoms consistent with Lyme disease resolved. Patient continues to have symptoms consistent with focal destruction of the parietal lobe. Over the past six months, she has not progressed and relapsed in a manner that is consistent with MS.
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PMID:Co-existance of toxoplasmosis and neuroborreliosis - a case report. 1645 90

We present a case of callosal disconnection syndrome as a rare manifestation of acute disseminated encephalomyelitis (ADEM). A dextral 48-year-old Japanese woman received trivalent inactivated influenza vaccine in mid-November 2011. Twenty days later, she was found to be in a daze. Subsequently, she developed abnormal behavior and gait disturbance, and she was disoriented regarding time and place. Nystagmus and abnormal ocular movements were absent. Upper limb power was normal, whereas her lower limbs were mildly weak. Tendon reflexes were normally evoked without pathological reflexes. There was no sensory impairment. Serum CRP levels were slightly elevated; other routine laboratory tests, thyroid functions, and vitamin B1 levels were within the normal range. Cerebrospinal fluid examination revealed that it was acellular with a protein level of 54 mg/dl and high myelin basic protein level. Fluid-attenuated inversion recovery MR images revealed a large hyperintense lesion in the corpus callosum, but the lower part of the splenium was spared. Flow voids were observed in the pericallosal arteries. She was diagnosed with post-vaccination ADEM and vigorously treated with an intravenous infusion of methylprednisolone (1 g/day for 6 days) and immunoglobulin (1.2 g/kg). Gait disturbance and disorientation rapidly improved; however, tactile anomia, ideomotor apraxia, ideational apraxia, and agraphia of the left hand were present one month after onset. She had no aphasia or alexia.Interestingly, the patient's left unilateral agraphia was more prominent in kana than kanji (an article in Japanese text) for polysyllabic words, whereas she could write kana characters to dictation. Changes in the sequential order of kana characters within a word were observed. These findings were similar to those observed in pure agraphia associated with lesions in the posterior part of the left middle frontal gyrus. Thus, an interhemispheric mechanism is probably involved in the selection and arrangement of kana characters to form words.
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PMID:[Acute disseminated encephalomyelitis following influenza vaccination: report of a case with callosal disconnection syndrome]. 2590 60

The human helicase senataxin (SETX) has been linked to the neurodegenerative diseases amyotrophic lateral sclerosis (ALS4) and ataxia with oculomotor apraxia (AOA2). Here we identified a role for SETX in controlling the antiviral response. Cells that had undergone depletion of SETX and SETX-deficient cells derived from patients with AOA2 had higher expression of antiviral mediators in response to infection than did wild-type cells. Mechanistically, we propose a model whereby SETX attenuates the activity of RNA polymerase II (RNAPII) at genes stimulated after a virus is sensed and thus controls the magnitude of the host response to pathogens and the biogenesis of various RNA viruses (e.g., influenza A virus and West Nile virus). Our data indicate a potentially causal link among inborn errors in SETX, susceptibility to infection and the development of neurologic disorders.
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PMID:Senataxin suppresses the antiviral transcriptional response and controls viral biogenesis. 2582 50