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

Positron emission tomography (PET) was used to measure cerebral blood flow (CBF), cerebral metabolic rate of oxygen (CMRO2), and cerebral metabolic rate of glucose (CMRglc) in patients with Alzheimer's disease. In the patients, values for CBF, CMRO2, and CMRglc have been shown to drop by 30-50% in comparison to age-matched normal controls. In the early stage (stage I), reductions in CBF and CMRO2 are prominent in the temporal and the temporoparietal cortices. In stage II, reduction in the parietal cortex also become quite prominent, and in the late stage (stage III) reduction begins prominently in the frontal cortex as well. These PET findings in Alzheimer's disease differ from those in vascular dementia, Pick's disease, and Huntington's disease. In the interrelationship among CBF, CMRO2 and higher brain function, CBF and CMRO2 decrease especially in the left frontal, the left temporal and the left parietal cortices in patients with marked language disability. On the contrary, CBF and CMRO2 decrease in the right temporal and the right parietal cortices in patients with marked apraxia and visuospatial deficits. Cerebral blood flow and metabolism are closely related to the functioning of nerve cells. Therefore we can isolate the region responsible for higher brain dysfunction and similarly evaluate the effects of treatment using cerebral blood flow and metabolism measurements.
 ...
PMID:[Measurements of cerebral blood flow and metabolism in patients with Alzheimer's disease]. 238 Oct 74

The spatial impairments of Turner's Syndrome were examined by administering perceptual, constructional, and nonverbal memory tasks to 11 probands and 22 controls matched for phenotypic sex, age, education, and hand preference. Visual imperception was more pronounced than constructional apraxia. Deficits in attention span were present, but they were not restricted to the visual modality or to nonverbal stimuli. Further neuropsychological tests of focal brain dysfunction and speech lateralization revealed slightly increased somatosensory thresholds of the left palm, attenuated manual asymmetry, and diminished right-visual-field superiority on letter identification. Different measures of spatial ability correlated with the somatosensory scores, the manual scores, and the speech representation scores, but the latter three variables showed no significant interrelationships. It is concluded that a unitary explanation in terms of focal CNS dysfunction or atypical speech representation can not account for the pattern of neuropsychological deficits seen in Turner's Syndrome.
 ...
PMID:Can spatial deficits in Turner's syndrome be explained by focal CNS dysfunction or atypical speech lateralization? 403 Oct 22

Single gene disorders offer the best opportunity for identification of genetic linkage and of abnormal genes. Epilepsies with single gene inheritance include symptomatic epilepsies where there is associated diffuse brain dysfunction, and idiopathic epilepsies where seizures are the major neurological abnormality. There are over 200 single gene symptomatic epilepsies; most are rare. Gene identification has been achieved in a number of these conditions but these important advances have not yet led to a better understanding of epileptogenesis, because of the associated brain disease. Idiopathic single gene epilepsies include benign familial neonatal convulsions, where genetic linkage to chromosomes 20q and 8q has been found in different families, and benign familial infantile convulsions where linkage is presently unknown. Recently, four autosomal dominant partial epilepsies have been described. In autosomal dominant nocturnal frontal lobe epilepsy a genetic defect in the alpha 4 subunit of the nicotinic acetylcholine receptor was found in one family. This is the first genetic defect described in an idiopathic epilepsy. The other three syndromes are autosomal dominant partial epilepsy with variable foci, autosomal dominant rolandic epilepsy with speech dyspraxia, and familial temporal lobe epilepsy. In the latter condition, linkage to chromosome 10q has been reported in one family, but the genetic defect is unknown. It is likely that other idiopathic single gene epilepsies will be identified. Molecular genetic study of these disorders is likely to lead to discovery of other epilepsy genes. This will lead to an improved understanding of human epileptogenesis with implications for clinical diagnosis, genetic counselling, pharmacological therapy and possibly prevention of epilepsy.
 ...
PMID:Epilepsies with single gene inheritance. 907 84

A 69-year-old right-handed woman developed a transcortical motor aphasia with hyperlexia following resection of a glioma in the left medial frontal lobe. Neurological examination revealed grasp reflex in the right hand and underutilization of the right upper extremity. An MRI demonstrated lesions in the left medial frontal lobe including the supplementary motor area and the anterior part of the cingulate gyrus, which extended to the anterior part of the body of corpus callosum. Neuropsychologically she was alert and cooperative. She demonstrated transcortical motor aphasia. Her verbal output began with echolalia. Furthermore hyperlexia was observed in daily activities and during examinations. During conversation she suddenly read words written on objects around her which were totally irrelevant to the talk. When she was walking in the ward with an examiner she read words written on a trash bag that passed by and signboards which indicated a name of a room. Her conversation while walking was intermingled with reading words, which was irrelevant to the conversation. She also read time on analog clocks, which were hung on a wall in a watch store. In a naming task, she read words written on objects first and named them upon repeated question about their names. When an examiner opened a newspaper in front of her without any instructions she began reading until the examiner prohibited it. Then she began reading again when an examiner turned the page, although she remembered that she should not read it aloud. She showed mild ideomotor apraxia of a left hand. Utilization behavior, imitation behavior, hypergraphia, or compulsive use of objects was not observed throughout the course. Hyperlexic tendency is a prominent feature of this patient's language output. Hyperlexia was often reported in children with pervasive developmental disorders including autism. There are only a few reports about hyperlexia in adults and some of them were related to diffuse brain dysfunction. Hyperlexia of our patient was associated with echolalia but not with the other "echo" phenomena, which may be because the lesion was unilateral on the left side. Dysfunction of the left supplementary motor area could lead to disinhibition of regulatory mechanism of verbal output in response to auditory and visual stimuli.
 ...
PMID:[Hyperlexia in an adult patient with lesions in the left medial frontal lobe]. 1096 60

Corticobasal degeneration (CBD) typically manifests as progressive asymmetric rigidity and apraxia, although other non-motor presentations have been reported. We report two patients with pathologically diagnosed CBD who presented with prominent visuospatial dysfunction. The pathological changes were maximal in the visual association cortices, but absent in 31 cases of pathologically proven CBD with more typical antemortem features. Underlying CBD should be considered in the differential diagnosis of patients with findings reflecting posterior cerebral dysfunction.
 ...
PMID:Pathologically confirmed corticobasal degeneration presenting with visuospatial dysfunction. 1458 81

Children with Developmental Coordination Disorder (DCD) are a group embracing clumsiness and developmental dyspraxia. Our study provides a better understanding of the nature of DCD and its etiology, and identifies subtypes of dyspraxia. Forty-three children with DCD (5-15 years) were enrolled on the Diagnostic and Statistical Manual of Mental Disorders (4th ed. [DSM-IV-TR]; American Psychiatric Association, 2000) criteria. Extensive standardized evaluations were conducted. We distinguished from two patterns of "pure" developmental dyspraxia: ideomotor and visual-spatial/visual-constructional, and mix dyspraxia with more co-morbidities. Our study provides a better understanding of the nature of DCD, and sheds light on its etiology and brain dysfunction, so as to identify subtypes of developmental DCD/dyspraxia with specific clinical criteria.
 ...
PMID:Subtypes of developmental coordination disorder: research on their nature and etiology. 2166 64

Japanese encephalitis, the commonest Arbovirus encephalitis, has been endemic in many parts of Asia, the Pacific Islands, and India; also, there have been many epidemics. Most of the post JE cases have been associated with neurological and neuropsychiatric deficits but have not been properly classified and followed. Practically all the previous studies were in children or young adults. The aim of this study, involving only adult cases, the largest ever being reported, has been to follow the 688/1,199 survivors of JE patients out of 1,282 of acute cases admitted during four epidemics for a period of 14 years after properly classifying the sequelae. This prospective study was conducted in B.R.D. Medical College Gorakhpur (India), involving 665/688 post JE cases with neuropsychiatric deficits from four epidemics of 1978, 1980, 1988 and 1989 which were properly classified in nine groups. While the first epidemic of 1978 was being studied, more disastrous episodes flared up and the patients were subsequently added. Hence, the total duration of this prospective study was from November 1978 to December 2003. There were 14 defaulted initially from 688 followed (23/688 without sequelae and 665/688 with neuropsychiatric deficits), and later 130 were lost from time to time at various stages of follow up. Four out of 23/688 discharged without any deficit had to be readmitted for bizarre movements, assaultative behaviour and euphoria without fever and altered sensorium. All of them improved by symptomatic treatment. Progressive improvement occurred in all the parameters consisting of psychological disturbances, higher cerebral dysfunction, speech disorders (dysphonia, dysarthria, dysphasias, apraxia and agnosia), extra pyramidal, pyramidal features, and hypothalamic disturbances, cranial nerves including pupils and fundi and seizures. Maximum cases improved between 6 months (55%) to 1 year (78%). Only some features improved between 5 to 14 years. Four patients of hemiplegia remained bed ridden. Some non disabling features like dysarthria and corticospinal features without paralysis persisted in 5% (95% improved) and 74% (26% improved) respectively. One patient with bizarre movement and nine with marked tremors could not regain normalcy. A large number of patients of JE are left with several minor or gross residual neuropsychiatric and neurological features after the acute phase. In this series also the discharged patients with neurological deficits who were quite disabled initially and needed constant care by family members and also those who required some help intermittently improved with passage of time and eventually returned to normal life. Some of them were left with non-disabling residual neurological signs even after 14 years. Fourteen of 544 (3%) could not return to their livelihood.
 ...
PMID:Japanese encephalitis (JE) part II: 14 years' follow-up of survivors. 2168 33

Post-stroke language disorders are frequent and include aphasia, alexia, agraphia and acalculia. There are different definitions of aphasias, but the most widely accepted neurologic and/or neuropsychological definition is that aphasia is a loss or impairment of verbal communication, which occurs as a consequence of brain dysfunction. It manifests as impairment of almost all verbal abilities, e.g., abnormal verbal expression, difficulties in understanding spoken or written language, repetition, naming, reading and writing. During the history, many classifications of aphasia syndromes were established. For practical use, classification of aphasias according to fluency, comprehension and abilities of naming it seems to be most suitable (nonfluent aphasias: Broca's, transcortical motor, global and mixed transcortical aphasia; fluent aphasias: anomic, conduction, Wernicke's, transcortical sensory, subcortical aphasia). Aphasia is a common consequence of left hemispheric lesion and most common neuropsychological consequence of stroke, with a prevalence of one-third of all stroke patients in acute phase, although there are reports on even higher figures. Many speech impairments have a tendency of spontaneous recovery. Spontaneous recovery is most remarkable in the first three months after stroke onset. Recovery of aphasias caused by ischemic stroke occurs earlier and it is most intensive in the first two weeks. In aphasias caused by hemorrhagic stroke, spontaneous recovery is slower and occurs from the fourth to the eighth week after stroke. The course and outcome of aphasia depend greatly on the type of aphasia. Regardless of the fact that a significant number of aphasias spontaneously improve, it is necessary to start treatment as soon as possible. The writing and reading disorders in stroke patients (alexias and agraphias) are more frequent than verified on routine examination, not only in less developed but also in large neurologic departments. Alexia is an acquired type of sensory aphasia where damage to the brain causes the patient to lose the ability to read. It is also called word blindness, text blindness or visual aphasia. Alexia refers to an acquired inability to read due to brain damage and must be distinguished from dyslexia, a developmental abnormality in which the individual is unable to learn to read, and from illiteracy, which reflects a poor educational background. Most aphasics are also alexic, but alexia may occur in the absence of aphasia and may occasionally be the sole disability resulting from specific brain lesions. There are different classifications of alexias. Traditionally, alexias are divided into three categories: pure alexia with agraphia, pure alexia without agraphia, and alexia associated with aphasia ('aphasic alexia'). Agraphia is defined as disruption of previously intact writing skills by brain damage. Writing involves several elements: language processing, spelling, visual perception, visuospatial orientation for graphic symbols, motor planning, and motor control of writing. A disturbance of any of these processes can impair writing. Agraphia may occur by itself or in association with aphasias, alexia, agnosia and apraxia. Agraphia can also result from 'peripheral' involvement of the motor act of writing. Like alexia, agraphia must be distinguished from illiteracy, where writing skills were never developed. Acalculia is a clinical syndrome of acquired deficits in mathematical calculation, either mentally or with paper and pencil. These language disturbances can be classified differently, but there are three principal types of acalculia: acalculia associated with language disturbances, including number paraphasia, number agraphia, or number alexia; acalculia secondary to visuospatial dysfunction with malalignment of numbers and columns, and primary anarithmetria entailing disruption of the computation process.
 ...
PMID:Post-stroke language disorders. 2203 87

A 68-year-old man was referred to our hospital with tension-type headaches and a 1-year history of dementia. On neurologic examination, he had ideomotor apraxia and incomplete Gerstmann syndrome that was characterized by acalculia, agraphia, and finger agnosia. On imaging, multiple cystic lesions reported as "unusually dilated perivascular spaces" were observed along the medullary arteries in the left hemisphere; some of them had adjacent hyperintense areas in fluid attenuated inversion recovery images. We assumed that the multiple cystic lesions caused his higher cerebral dysfunction, because ideomotor apraxia and Gerstmann syndrome are usually indicative of a left parietal lobe lesion. MR spectroscopy in the lesion site revealed increased lactate. On MR angiography, the left middle cerebral artery and the left posterior cerebral artery were poorly visualized without localized stenosis. Technetium-99 bicisate single-photon emission computed tomography showed severely decreased cerebral blood flow in the left hemisphere. Electroencephalography showed slow waves in the left hemisphere.
 ...
PMID:[A 68 year-old man presenting ideomotor apraxia and incomplete Gerstmann syndrome with multiple cystic lesions in the left hemisphere]. 2298 5

This is a case study of an 88-year-old man who presented with agenesis of the corpus callosum and colpocephaly. Symptomatically, he reported a sudden onset of mild, intermittent left hand apraxia, but denied any previous manifestations consistent with this type of brain malformation. The patient underwent neuroimaging, evaluation by neurology, and comprehensive neuropsychological testing to determine the nature of any other associated impairments. Test results indicated that he was, with a few exceptions, neuropsychologically normal. He performed well on tests that are highly sensitive to acquired brain dysfunction. His most notable deficit was failed performance in the simultaneous and coordinated use of both hands in using tactile and proprioceptive feedback on the Tactual Performance Test. This case is discussed in terms of plasticity of the developing brain, including compensatory mechanisms, highlighting the variability in clinical outcome in the context of congenital brain malformation. This case study illustrates the strong influence of cerebral plasticity as well as a possible circumscribed manifestation of interhemispheric disconnection.
...
PMID:Case study: a patient with agenesis of the corpus callosum with minimal associated neuropsychological impairment. 2396 37


1 2 Next >>