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)

A 72-year-old man developed a very progressive neuropsychologic deficit 6 years ago, beginning with isolated visual topographic memory disturbances and visuo-constructive apraxia without additional manifestations of dementia. The syndrome worsened thereafter with the emergence of visual agnosia, simultagnosia, psychic paralysis of gaze, auditivo-verbal agnosia, and recently an amnestic syndrome with confabulation and confusion (at the end of 1989). CT scans, which remained unchanged over the years, showed mild, focal atrophic changes revealed by dilatation of the right occipital horn. His angiograms were normal. Two SPECT studies (with HMPAO measurements), performed 6 years from the onset, detected marked hypoperfusion in both parieto-occipital regions, mainly on the right side. Progressive focal degenerative disease without dementia is a relatively new syndrome, especially in cases with progressive aphasia. As noted in our patient, progressive disturbances initially localized in the right parieto-occipital region followed by posterior bilobar degeneration (pronounced on the right side) without dementia until late in the course may represent another exceptionally reported characteristic of this new syndrome. It is suggested that this variant of the Mesulam syndrome is more likely explained by progressive atrophy of the Alzheimer type.
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PMID:Progressive focal degenerative disease of the posterior associative cortex. 804 94

Frontotemporal dementia (FTD), characterized by behavioural and language disorders, is a clinically, genetically and pathologically heterogeneous group of diseases. The most recently identified of the four known genes is GRN, associated with 17q-linked FTD with ubiquitin-immunoreactive inclusions. GRN was analysed in 502 probands with frontal variant FTD (fvFTD), FTD with motoneuron disease (FTD-MND), primary progressive aphasia (PPA) and corticobasal degeneration syndrome (CBDS). We studied the clinical, neuropsychological and brain perfusion characteristics of mutation carriers. Eighteen mutations, seven novel were found in 24 families including 32 symptomatic mutation carriers. No copy number variation was found. The phenotypes associated with GRN mutations vary greatly: 20/32 (63%) carriers had fvFTD, the other (12/32, 37%) had clinical diagnoses of PPA, CBDS, Lewy body dementia or Alzheimer's disease. Parkinsonism developed in 13/32 (41%), visual hallucinations in 8/32 (25%) and motor apraxia in 5/21 (24%). Constructional disorders were present in 10/21 (48%). Episodic memory disorders were frequent (16/18, 89%), consistent with hippocampal amnestic syndrome in 5/18 (28%). Hypoperfusion was observed in the hippocampus, parietal lobe and posterior cingulate gyrus, as well as the frontotemporal cortices. The frequency of mutations according to phenotype was 5.7% (20/352) in fvFTD, 17.9% (19/106) in familial forms, 4.4% in PPA (3/68), 3.3% in CBDS (1/30). Hallucinations, apraxia and amnestic syndrome may help differentiate GRN mutation carriers from others FTD patients. Variable phenotypes and neuropsychological profiles, as well as brain perfusion profiles associated with GRN mutations may reflect different patterns of neurodegeneration. Since all the mutations cause a progranulin haploinsufficiency, additional factors probably explain the variable clinical presentation of the disease.
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PMID:Phenotype variability in progranulin mutation carriers: a clinical, neuropsychological, imaging and genetic study. 1824 84

Bipedal locomotion and fine motility of hand and larynx of humans introduced musculoskeletal adaptations, new pyramidal, corticostriatal, corticobulbar, nigrostriatal, and cerebellar pathways and expansions of prefrontal, cingular, parieto-temporal and occipital cortices with derived new brain capabilities. All selectively degenerate in aged homo sapiens following 16 syndromic presentations: (1) Parkinsonism: nigrostriatal control for fast automatic movements of hand, larynx, bipedal posture and gait ("simian gait and hand"). (2) Frontal (highest level) gait disorders (lower body parkinsonism, gait apraxia, retropulsion): prefrontostriatal executive control of bipedal locomotion. (3) ataxia: new synergistic coordination of bipedal gait and fine motility. (4) Dyskinesias (chorea, dystonia, tremor...): intrusions of simian basal ganglia motor subroutines. (5) motoneuron diseases: new proximo-distal and bulbar motoneurones, preserving older ones (oculomotor, abdominal...). (6) Archaic reflexes: prefrontal disinhibition of old mother/tree-climbing-oriented reflexes (sucking, grasping, Babinski/triple retraction, gegenhalten), group alarms (laughter, crying, yawning, grunting...) or grooming (tremor=scratching). (7) Dysautonomia: contextual regulation (orthostatism...). (8) REM sleep disorders of new cortical functions. (9) Corticobasal syndrome: melokinetic control of hand prehension-manipulation and language (retrocession to simian patterns). (10) Frontal/temporal lobe degeneration: medial-orbitofrontal behavioural variant: self monitoring of internal needs and social context: apathy, loss of personal hygiene, stereotypia, disinhibition, loss of concern for consequences of acts, social rules, danger and empathy; dorsolateral executive variant: inadequacy to the context of action (goal, environmental changes...); progressive non-fluent aphasia: executive and praxic processing of speech; temporal variant: abstract concepts for speech, gestures and vision (semantic dementia, progressive nonfluent aphasia) (11) Temporomesial-limbic-paralimbic-associative cortical dementias (Alzheimer's disease, Lewy body, progressive amnesia): processing of explicit cognition: amnesic syndrome, processing of hand, larynx and eye: disorientation, ideomotor apraxia, agnosia, visuospatial processing, transcortical aphasia. (12) Focal posterior atrophy (Benson, progressive apraxia): visuomotor processing of what and where. (13) Macular degeneration: retinal "spot" for explicit symbols. (14) "Psychiatric syndromes": metacognition, self monitoring and regulation of hierarchical processing of metacognition: hallucinations, delusions, magic and mystic logic, delusions, confabulations; drive: impulsivity, obsessive-compulsive disorders, mental automatisms; social interactions: theory of mind, autism, Asperger. (15) Mood disorders: control on emotions: anxio-depressive and bipolar disorders, moria, emotional lability. (16) Musculoskeletal: inclusion body myositis: muscles for bipedal gait and fine motility. Paget's disease: bones for bipedal gait and cranium. Understanding of the genetic mechanisms underlying the evolution of these recent human brain regions and paleoneurology my be the key to the focal, asymmetrical or systemic character of neurodegeneration, the pathologic heterogeneity/overlap of syndromic presentations associating gait, hand, language, cognition, mood and behaviour disorders.
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PMID:Paleoneurology: neurodegenerative diseases are age-related diseases of specific brain regions recently developed by Homo sapiens. 1870 90

In this paper, we review the symptoms associated with damages to the frontal and/or temporal lobes. Similarities and differences between the symptoms observed after a stroke and in frontotemporal lobar degeneration are also discussed. Frontal lobe damages may lead to various apraxic disorders, including limb-kinetic, ideomotor, gait, buccofacial, and ocular motor apraxia. Language dysfunction can arise from perisylvian lesions as well as from extra-perisylvian regions. Broca's aphasia, Wernicke's aphasia, pure word deafness, and aphemia are typical examples of disorders caused by damages to the perisylvian region. Transcortical motor and anomic aphasias are mostly associated with damages to the extra-perisylvian region. Although it has been reported that executive dysfunction is associated with damages to the frontal lobe, it remains to be determined whether there is a cause-and-effect relationship between the 2. A combination of memory, attention, emotional, and mood disorders may underlie executive dysfunction. Patients with lesions in the inferior temporal lobe often present with various types of agnosia. Visual agnosia is common in semantic dementia, but is infrequent after a stroke in the temporal lobe. Prosopagnosia is a rare consequence of damages to the temporal lobe. Bilateral and right-sided lesions are likely to cause this disorder than left-sided lesions. Although, prosopagnosia is less frequently observed than visual agnosia in semantic dementia, it still is one of the common features of the disease. Bilateral injuries to the mesial temporal lobes have been known to induce a marked amnesic syndrome. It is devastating in that the patient can remember virtually nothing new. However, memories acquired before the injuries are mostly conserved and the patient can still learn motor skills.
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PMID:[The symptomatology of frontal and temporal lobe damages]. 1993 77

Clinical features of carbon monoxide poisoning have been described in 24 victims of an intense explosion accident of the Mitsui-Miike Mikawa coal mine in Japan 50 years ago; these victims were admitted to the Kyushu University Hospital as they suffered from severe poisoning. In the early stage of poisoning, all victims showed disturbed state of consciousness, varying in duration from 5.5 hours to 3 months, and the duration of unconsciousness was closely correlated to the clinical severity in the late stage. Some of the severely poisoned patients showed a transient stage of apallic syndrome. After recovery from unconsciousness, all patients presented with severe amnestic syndrome and loss of initiative. Neurologically, the extrapyramidal signs were prominent in the early stage, which gradually improved in the late stage. Variable types of agnosia and apraxia were apparent in some of the severely and moderately poisoned patients in the late stage, with prominent Gerstmann syndrome and visual-visuospatial agnosias. Since these signs showed poor improvement, the agnosia and apraxia, as well as impaired intellectual ability, remained as a sequela of the poisoning, and were one of the major causes of deficits of the patients in their daily life activities in the late stage.
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PMID:[Carbon monoxide poisoning: clinical features of the victims of the explosion accident of Mitsui-Miike Mikawa coal mine 50 years ago]. 2558 32