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)

The paper describes the psychiatric status on the basis of 76 patients with acquired immune deficiency syndrome. There is considerable difference between the different stages of the disease. The disorders are divided into groups following the German and French psychopathological tradition, where the incidence is dependent on the underlying complaint. 50% of the patients suffered from chronic psychoorganic disorders (34% organic personality disorders, 16% dementia). 9% suffered from an acute psychosis caused by complications and founded on substantial physical illness. 3 patients showed symptoms of a (under given circumstances) hitherto unknown endoform psychosis. In 9% of the patients, psychoreactive disturbances (anxiety and reactive depression) were observed. Two infants had congenital development deficiencies. 25% of the patients were without any psychopathology. Patients showing organic personality disorders mostly resemble each other to such a degree as to form a separate group. We suggest to name this group according to the most prominent psychopathology as "AIDS-lethargy". This status is characterised by a specific apathy, tiredness and indolence of the patients combined with the lack of emotional participation related to their own destiny. AIDS-lethargy is the first manifestation in appearance of the HIV infection of the brain itself. Another sequel of the brain infection is AIDS dementia which can be classified as "subcortical dementia" and differs from the more current forms of dementia clinically. Affected are mainly neuropsychologic functions like arousal, attention, mood and motivation, whereas the hallmarks of cortical involvement-aphasia, agnosia and apraxia-are not present. Supplementary findings (EEG, CCT, CSF): The group of patients with chronic psychoorganic disorders differs significantly from the group with psychoreactive disorders and normals. Pathological EEG and CCT are more frequent in psychoorganic disorders. CSF-test-including the intrathecally synthesized antibodies against HIV-does not show traceable variation in either group. There are four problems which may be combined in a given acute psychopathological HIV-syndrome: 1. Being member of a risk group with its reactive, psychosocial and personality problems. 2. Individual mental and emotional reaction to the fact of infection 3. Chronic psychoorganic disturbances. 4. Acute organic psychoses as a result of complications and other physical illness.
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PMID:[Psychopathologic pictures in HIV infection: AIDS lethargy and AIDS dementia]. 340 94

A 44-year-old man with a documented 12-year history of progressive sensorineural hearing loss developed a generalized tonic-clonic seizure followed by a visual field deficit and apraxia. Six months later he developed a peripheral neuropathy and muscle fatigue followed by a slowly progressive aphasia and cortical blindness as well as increased seizure activity. A computed tomography scan showed bilateral basal ganglion calcification. The serum lactate level was elevated at 3.4 mEq/dL. A muscle biopsy enabled the diagnosis of mitochondrial myopathy. This disorder is presented as an unusual cause of progressive sensorineural hearing loss in adults.
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PMID:Mitochondrial encephalomyopathy: a rare genetic cause of sensorineural hearing loss. 757 56

In the years 1982-1985 in the Dept. of Neurosurgery of the Jagiellonian University, 197 patients with anterior communicating artery aneurysms were operated on. Excluding multiple aneurysms (9), and taking into account early surgical losses (16), 172 patients were supposed to undergo late medical examinations. The patients were examined by means of questionnaires at least five years after surgery. 43 patients out of the 123 (71.5%) who handed in filled-in questionnaires, underwent psychological examination. Preliminary analysis of the late results of surgery indicates maintenance of the neurological disorders and symptoms. Within the group of examined patients (a neuropsychological examination, Wechsler Scale) it was found that 33 patients had considerable morbid decline in their mental condition and 4 patients moderate. 6 patients were not examined with Wechsler Scale because of aphasia (5 patients) and considerable deterioration of visual acquity (1 patient). The results of the neuropsychological examination showed that the symptoms that predominated were: short memory disorder, a slowdown in psychical and motor functions, conscious concentration disorder, elements of dynamic apraxia and increased tiredness as far as psychical process was concerned. 14 patients (32.6%) resumed work on their former posts, among them the 4 patients who had moderate morbid decline in their mental condition.
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PMID:[Neuropsychological disorders after subarachnoid hemorrhage and surgery in anterior communicating artery brain aneurysms]. 1080 May 85

Progressive multifocal leukoencephalopathy is an infection of the immunosuppressed, especially of AIDS, patients. The disease is caused by the JC virus and is exceptionally rare in children. The diagnosis is based on MRI and on the detection of JC virus DNA in the cerebrospinal fluid. Progression is relentless in most cases. The only treatment of proven benefit is restoration of the immune system by highly active antiretroviral therapy. We report the case of a 15S-year-old HIV-infected boy. After several months of fatigue he developed apathy, head tilt, diplopia, motor apraxia and unsteady gait. Physical examination revealed mild cerebellar signs. MRI showed a 30-mm large, non-enhancing, hyper-intense area in the right cerebellar hemisphere and the middle cerebellar peduncle. JC virus DNA was detected in the cerebrospinal fluid. Two weeks later the MRI showed progression. The patient's condition rapidly worsened and he died four months after the onset of the disease. Autopsy revealed widespread lesions of the cerebellar hemispheres and the brainstem. The case presented is peculiar owing to the young age of the patient, the unusual localization and the unifocal nature of the lesion.
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PMID:Progressive multifocal leukoencephalopathy in an HIV-infected child. 1760 2

Gaucher disease is a recessively inherited lysosomal storage disorder, caused by deficiency of glucocerebrosidase activity. Affected individuals usually present with hepatosplenomegaly, anaemia, thrombocytopenia, and skeletal diseases. A wide range of neurological manifestations have also been recognized in Gaucher patients including acute neurological deterioration in infancy, mental retardation, ocular motor apraxia, seizure, and parkinsonism. Although muscle weakness is not an uncommon finding in patients with Gaucher disease, the aetiology of weakness is not well understood. We prospectively investigated seven Gaucher patients and found that four of them (patients 1-4) had mild to moderate degree of proximal-predominant symmetrical muscle weakness in four limbs. By history, three patients (patients 1-3) developed insidious onset of nonprogressive muscle weakness in four limbs with easy muscle fatigue from adolescence. A needle electromyographic study detected some small, brief polyphasic waves in these four patients. Muscle biopsy in one patient (patient 1) showed a few atrophic type II muscle fibres without infiltration of Gaucher cells. Three patients (patients 1-3) continuously received enzyme replacement therapy with imiglucerase and their muscle strength seemed improved after two years. We concluded that Gaucher disease may be associated with myopathy.
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PMID:Myopathy in Gaucher disease. 1819 73

Down syndrome cell adhesion molecules (dscam and dscaml1) are essential regulators of neural circuit assembly, but their roles in vertebrate neural circuit function are still mostly unexplored. We investigated the functional consequences of dscaml1 deficiency in the larval zebrafish (sexually undifferentiated) oculomotor system, where behavior, circuit function, and neuronal activity can be precisely quantified. Genetic perturbation of dscaml1 resulted in deficits in retinal patterning and light adaptation, consistent with its known roles in mammals. Oculomotor analyses revealed specific deficits related to the dscaml1 mutation, including severe fatigue during gaze stabilization, reduced saccade amplitude and velocity in the light, greater disconjugacy, and impaired fixation. Two-photon calcium imaging of abducens neurons in control and dscaml1 mutant animals confirmed deficits in saccade-command signals (indicative of an impairment in the saccadic premotor pathway), whereas abducens activation by the pretectum-vestibular pathway was not affected. Together, we show that loss of dscaml1 resulted in impairments in specific oculomotor circuits, providing a new animal model to investigate the development of oculomotor premotor pathways and their associated human ocular disorders.SIGNIFICANCE STATEMENT Dscaml1 is a neural developmental gene with unknown behavioral significance. Using the zebrafish model, this study shows that dscaml1 mutants have a host of oculomotor (eye movement) deficits. Notably, the oculomotor phenotypes in dscaml1 mutants are reminiscent of human ocular motor apraxia, a neurodevelopmental disorder characterized by reduced saccade amplitude and gaze stabilization deficits. Population-level recording of neuronal activity further revealed potential subcircuit-specific requirements for dscaml1 during oculomotor behavior. These findings underscore the importance of dscaml1 in the development of visuomotor function and characterize a new model to investigate potential circuit deficits underlying human oculomotor disorders.
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PMID:Zebrafish dscaml1 Deficiency Impairs Retinal Patterning and Oculomotor Function. 3168 52