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)

Seventy individuals with ataxia telangiectasia were studied: 29 females and 41 males with an age range of 2 to 42 years. The majority (43/68) presented by 3 years of age with truncal ataxia. All had progressive, handicapping neurological symptoms exhibiting ataxia (70/70), ocular motor apraxia (70/70), an impassive face (70/70), dysarthria (70/70), chorea (68/70), dystonia (55/70) and peripheral neuropathy (50/70). Clinical immune deficiency was present in 43 of 70 patients. Ocular telangiectasia were seen in all but one case and excessive thinness in 54 of 70. The mean age of loss of walking was 10 years and of writing 8 years. All 60 tested showed increased sensitivity to ionizing irradiation, 43 of 48 had an elevated alpha-fetoprotein level and 14 of 21 had an immunoglobulin deficiency. Although there was a marked variation in disease findings sibs were always similar. The heterogeneity seen seems at odds with the unilocus linkage of ataxia telangiectasia to 11q23.
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PMID:Ataxia telangiectasia in the British Isles: the clinical and laboratory features of 70 affected individuals. 137 28

Cortico-basal degeneration is a progressive disease comprisong characteristic features concerning both cortical and basal ganglionic dysfunction. Manifestations include akineto-rigid syndrome and apraxia strictly limited at disease onset to one hemibody, especially the left. Myoclonus, chorea a alien limb syndrome can begin within the clinicalcome. Functional exploration of the brain shows an asymmetric hypometabolism affecting both cortical and basal structures. Neuropathologic studies show pathological features including neuronal loss, gliosis and neuronal achromasia affecting the cortex (frontal and parietal), basal ganglia and locus niger. Further evaluation of this disease is needed to understand its links with the other neurological degenerative diseases especially progressive aphasia and Pick's disease.
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PMID:[Cortico-basal degeneration: a new entity]. 783 Dec 68

All cases examined postmortem at the Mayo Clinic that met the classic neuropathological criteria for progressive supranuclear palsy (PSP) were identified for retrospective clinical analyses. The necropsy material was re-examined by a second neuropathologist to confirm the pathological diagnosis of PSP, yielding 12 cases. A range of clinical signs were documented in these patients, with numerous findings beyond those noted in the original descriptions of this disorder. Atypical clinical findings included absence of supranuclear gaze palsy (two cases), prominent asymmetry (two), arm dystonia (two), upper limb apraxia (two), myoclonus (two), chorea (one), eyelid opening apraxia (one), and respiratory disturbance (one). A definite clinical diagnosis of PSP had been made during life in only eight of the 12 patients. From the retrospective analysis of these 12 cases, a set of clinical criteria were developed for the premortem diagnosis of PSP emphasising differences from other akinetic-rigid disorders.
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PMID:Progressive supranuclear palsy: neuropathologically based diagnostic clinical criteria. 767 78

The authors report a case of Huntington's disease in an 11-year-old boy with onset at six years of age. The neurological signs and symptoms were midway between the hyperkinetic and rigid forms of chorea. Intellectual development was characterized by a medium-grade deficit. MRI revealed marked atrophy of the head of the caudate nucleus, with diffuse hyperintensity of the putamen. The most characteristic neuropsychological feature was ideomotor apraxia. Neuropsychological and neuroradiological data are discussed in relation to the role of the basal nuclei and frontal cortex in the organization of movement.
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PMID:Neuropsychological and neuroradiological study of a case of early-onset Huntington's chorea. 822 53

We report a nonconsanguineous family in whom two (of three) sons developed isolated chorea in early childhood, suggesting a diagnosis of benign hereditary chorea (BHC). However, cerebellar ataxia and oculomotor apraxia, without telangiectasia, subsequently developed. Chromosome analysis showed increased radiosensitivity in both brothers and translocations in the younger one. We conclude that ataxia with chromosomal instability may masquerade as BHC in some patients.
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PMID:Ataxia without telangiectasia masquerading as benign hereditary chorea. 1148 21

Basal ganglia have been known as a motor center because their lesions cause motor disturbances in involuntary movements such as chorea, ballism or akinesia in parkinsonism. The different types of involuntary movements are closely related to the underlying muscle tone. Mechanisms of bradykinesia or akinesia have been elaborated in physiological studies on Parkinson's disease and the significance of sensorimotor processing or attention arousal has been disclosed as a relevant factor of bradykinesia. Analysis of short-stepped gait, frozen gait or apraxia of gait, has claimed the frontal lobe and the striatum to be a locomotion center especially in humans (bipedal locomotion). Cognitive function of the basal ganglia has attracted attention particularly in the disorder of Parkinson's disease. Subcortical dementia, difficulty in formation or changes of concepts are encountered in advanced stages of Parkinson's disease. Whether cognitive functions in the frontostriatal system are primarily related to the motor function of the brain is an issue for future study.
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PMID:Historical review of research on functions of basal ganglia. 879 Oct 14

We report a case of dystonia with a partial deletion of the short arm (p) of chromosome 18 and androgen insensitivity. Neurologic findings in the 18p syndrome are reported to include mental retardation, seizures, incoordination, tremor, and chorea. A 15-year-old girl with a denovo 18p deletion [karyotype 46, XY, del (18)(p11.1)] developed progressive asymmetric dystonia. She had oromotor apraxia and partial expressive aphasia since childhood, and she was able to partially communicate through elementary sign language. At the age of 15 years, she developed subacute and progressive choreic movements of the right arm, severe dystonic posturing of the left arm, and spastic dystonia in both legs. Her response to parenteral or oral benzodiazepines, oral trihexyphenidyl, benztropine mesylate, baclofen, and L-dopa were brief and inadequate. The response to intrathecal baclofen has been sustained over 18 months. In all likelihood, the 18p deletion syndrome affecting this patient is significant in the pathogenesis of her acquired dystonia. Chronic intrathecal baclofen therapy via pump has been effective in this case and should be considered as a treatment modality in carefully selected patients with dystonia.
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PMID:Progressive dystonia in a child with chromosome 18p deletion, treated with intrathecal baclofen. 1007 26

We report a patient with genetically confirmed Huntington's disease (HD) presenting apraxia of eyelid closure (AEC). She was unable to close her eyes at command but was able to blink. Chorea and AEC ameliorated significantly during treatment with olanzapine and riluzole, an inhibitor of glutamate release. AEC is reported in progressive supranuclear palsy, Creutzfeldt-Jakob's disease, amyotrophic lateral sclerosis, and as post-stroke AEC. No report on HD is available so far, although oculomotor disturbances are quite common in this disease.
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PMID:Apraxia of eyelid closure in Huntington's disease. 1207 60

Ideomotor limb apraxia, a disorder of goal-directed movement, has been attributed to lesions in the frontal and parietal lobes, but the role of subcortical structures is less certain. In order to determine its prevalence in a disorder affecting the basal ganglia and corticostriatal connections, we examined imitation of hand gestures in Huntington's disease (HD) patients. We also assessed the relationship between apraxia and cognitive and motor dysfunction in an effort to better understand the neural underpinnings of apraxia in HD. If damage restricted to the basal ganglia produces ideomotor limb apraxia, then we would expect to find evidence of apraxia in patients who were early in the disease course when selective striatal damage is most common. Such a pattern, however, was not found in our sample. Instead, patients with greater neurological impairment and with a longer duration of disease were more likely than less affected patients to demonstrate apraxia. Apraxia was not related to severity of chorea, but was associated with greater impairment in eye movements, voluntary movements, and verbal fluency. These findings suggest that apraxia in HD results from damage to the corticostriate pathways and the basal ganglia rather than from damage restricted to the basal ganglia.
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PMID:Ideomotor limb apraxia in Huntington's disease: implications for corticostriate involvement. 1255 54

Ataxia with ocular motor apraxia type 1 (AOA1) is an autosomal recessive cerebellar ataxia (ARCA) associated with oculomotor apraxia, hypoalbuminaemia and hypercholesterolaemia. The gene APTX, which encodes aprataxin, has been identified recently. We studied a large series of 158 families with non-Friedreich progressive ARCA. We identified 14 patients (nine families) with five different missense or truncating mutations in the aprataxin gene (W279X, A198V, D267G, W279R, IVS5+1), four of which were new. We determined the relative frequency of AOA1 which is 5%. Mutation carriers underwent detailed neurological, neuropsychological, electrophysiological, oculographic and biological examinations, as well as brain imaging. The mean age at onset was 6.8 +/- 4.8 years (range 2-18 years). Cerebellar ataxia with cerebellar atrophy on MRI and severe axonal sensorimotor neuropathy were present in all patients. In contrast, oculomotor apraxia (86%), hypoalbuminaemia (83%) and hypercholesterolaemia (75%) were variable. Choreic movements were frequent at onset (79%), but disappeared in the course of the disease in most cases. However, a remarkably severe and persistent choreic phenotype was associated with one of the mutations (A198V). Cognitive impairment was always present. Ocular saccade initiation was normal, but their duration was increased by the succession of multiple hypometric saccades that could clinically be confused with 'slow saccades'. We emphasize the phenotypic variability over the course of the disease. Cerebellar ataxia and/or chorea predominate at onset, but later on they are often partially masked by severe neuropathy, which is the most typical symptom in young adults. The presence of chorea, sensorimotor neuropathy, oculomotor anomalies, biological abnormalities, cerebellar atrophy on MRI and absence of the Babinski sign can help to distinguish AOA1 from Friedreich's ataxia on a clinical basis. The frequency of chorea at onset suggests that this diagnosis should also be considered in children with chorea who do not carry the IT15 mutation responsible for Huntington's disease.
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PMID:Cerebellar ataxia with oculomotor apraxia type 1: clinical and genetic studies. 1450 70


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