Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0013421 (dystonia)
 8,418 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

We re-examined 371 infants with birth weights less than 1501 g at a corrected age of 18-20 months. This sample amounted to 91% of such infants admitted to one of the six neonatal intensive care units in Hamburg between July 1983 and 1986. The neurological examination and a developmental evaluation using the Griffith Developmental Scale revealed higher rates of abnormalities than in most other studies. Fifty-five children (14.8%) suffered from cerebral palsy, classified in 45 as spastic diplegia, in 5 as spastic tetraplegia, in 1 as spastic hemiplegia and in 4 as dystonia. Of the children, 41 (11%) showed minor neurological deviations (hyperactivity, clumsiness, intention tremor). The development of 30 children (8%) without neurological abnormalities was moderately retarded (DQ 80-89, corrected for gestational age [GA]). Nineteen children (5%) were severely retarded (DQ less than 80, corrected for GA) and four children (1.5%) were blind due to retrolental fibroplasia. An isolated delay of speech development was found in 5 children. Seventy children (18.9%) had a major and 87 children (23.5%) a minor handicap.
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PMID:Development of very low birth weight infants: a regional study of 371 survivors. 172 Mar 87

A genetic study of idiopathic focal dystonias was undertaken by examining 153 first-degree relatives of 40 index patients with torticollis (14 patients), other focal cranial dystonias (16 patients), and writer's cramp (10 patients). Nine relatives with dystonia were identified in 6 families; 8 of these had symptoms such as clumsiness or tremor, but none were aware of any dystonia. A further 4 relatives, now decreased, were affected by history. Overall, 25% of index patients had relatives with dystonia. The results of segregation analysis suggested the presence of an autosomal dominant gene or genes with reduced penetrance as a common cause for focal dystonia. Segregation ratios were not significantly different from those ratios observed in generalized or segmental dystonia in the United Kingdom, and it is possible that a single autosomal dominant gene mutation is responsible for inherited dystonia in the majority of patients irrespective of distribution or severity.
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PMID:A genetic study of idiopathic focal dystonias. 204 48

Nine cases of progressive supranuclear palsy are reported in this paper. There are 6 males and 3 females in this series. The average age at admission was 62 years. The clinical features of those cases are: (1) onset at the presenile with gradual progression, (2) supranuclear vertical ophthalmoplegia, especially downgaze paresis, (3) disarthria, (4) gait disturbances, (5) dystonia and rigidity of the limbs, (6) clumsiness and ataxia, (7) masked face, (8) bilateral pyramidal signs and (9) mental disturbances. The CT scan in this series showed dilatation of the ventricular system, enlargement of the Sylvius fissure and cortical sulci. There was also enlargement of quadrigeminal and cisterns in the CT scan. The CT diagnosis were cerebral atrophy in 9 cases and brainstem atrophy in 8 cases in this series.
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PMID:[Progressive supranuclear palsy]. 263 3

Two cases of progressive supranuclear palsy (PSP) with palilalia were presented. Case 1: A 64-year-old woman was in good health until age 62 when she noted clumsiness in walking. Subsequently, forgetfulness, abrupt falls and difficulty in swallowing developed. At the age of 63, she tended to repeat same words in conversation. On admission, neurological examination revealed mental deterioration (Hasegawa's scale 19), unsteady emotional state, supranuclear vertical gaze palsy, pseudobulbar palsy, nuchal dystonia, pyramidal tract signs and extrapyramidal signs. Although spontaneous speech production was reduced, she could answer to questions with compulsive repetition of a phrase or word. She always repeated twice or three times without stuttering, logoclonus or "palilalie aphone". Case 2: A 68-year-old, right-handed woman noted double vision since about one year ago. Subsequently, she developed slowness of voluntary movement, forgetfulness and difficulty in walking. Neurological examination showed similar signs as Case 1. She was not palilaic on examination, however we found the description of her palilalia on nurse's working records. Palilalia was not present so constantly as Case 1, but continued for about a year. We suppose that palilalia is not a rare phenomenon in PSP. Although the pathogenesis of palilalia is unknown at present, we speculate the combination of extrapyramidal sign, pseudobulbar palsy and dementia may most contribute the pathogenesis of palilalia on PSP.
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PMID:[Palilalia associated with progressive supranuclear palsy]. 267 8

Delayed neurological deterioration following anoxia is known to result from carbon monoxide exposure. However, it may also occur with anoxia of other types as well. The present report describes a case of delayed postanoxic encephalopathy with bilateral striatal lesions demonstrated by magnetic resonance imaging. A 27-year-old man exhibited anoxic anoxia caused by upper airway obstruction following general anesthesia for shoulder fracture surgery. Initially he was delirious and markedly excited for one day and became apparently normal for the following three days. Then he relapsed into delayed neurological deterioration with speech and gait disturbance, clumsiness of hand, pyramidal signs and metamorphopsia. Thereafter, he became bed-ridden and fell into semicomatose state with marked motor restlessness, involuntary movement of the tongue and decorticate posture. Twenty-five days later he had a second recovery period after hyperbaric oxygenation that lead to the sequelae with speech and motor disturbances and mild mental changes. I examined the present case as an expert witness in a civil suit eleven years after initial anoxia. The patient showed slight intellectual impairment and personality change. Impairment in figure-ground differentiation and disorders of spatial thought were also observed. Neurological examination revealed anisocoria, dysarthria with acquired stuttering, disturbances of fractionated movement of fingers, writer's cramp and Babinski's sign bilaterally. Postural dystonia of both hands and fingers, rigidity and spasticity of all extremities were also present. Magnetic resonance imaging (MRI) showed bilateral lesions of the corpus striatum, especially of the putamen. Some portion of the caudate nucleus was also involved. Cerebral cortices and white matter were slightly atrophic. From the above clinical course and neurological findings, we diagnosed the present case as delayed postanoxic encephalopathy. Ginsberg (1979) noted that in cases of anoxia not related to carbon monoxide, diffuse demyelinative changes of cerebral hemispheral white matter tended to be associated with relapsing clinical course, and gray matter injury was only seen in a few cases. MRI findings in the present case suggest that main site of the lesion to be in gray matter of the corpus striatum. In this respect, the present case is considered to be noteworthy.
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PMID:[A case of delayed postanoxic encephalopathy with bilateral lesions of the corpus striatum]. 281 6

An 11-year-old Japanese girl was diagnosed as having type 3 GM1 gangliosidosis by clinical symptoms and enzyme assay. She was the youngest among the patients with type 3 GM1 gangliosidosis whose clinical and neuroradiological findings have been documented. Clumsiness since early infancy and dystonia since early childhood which progressed slowly without mental deterioration and dysmorphism led us to the diagnosis of type 3 GM1 gangliosidosis. Genotype determination showed point mutation in exon 2 of the beta-galactosidase gene, which is common among the patients reported in Japan. T2-weighted MRI demonstrated bilateral symmetrical hypointensity in the putamen and globus pallidus. Single photon emission computed tomography using 99mTc-HMPAO showed bilateral hyperperfusion in the basal ganglia which decreased gradually during 1 year of observation. Twenty-two patients with type 3 GM1 gangliosidosis reported in the literature whose onset was at under 15 years of age were reviewed.
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PMID:Type 3 GM1 gangliosidosis: clinical and neuroradiological findings in an 11-year-old girl. 893 63

Five cases are reported of patients with so-called primary progressive apraxia, defined as a slowly worsening disturbance of gestural abilities, without other major cognitive changes during a long period, in relation to degenerative cortical atrophy. All five cases, as other cases in the literature, share the following common features: 1) asymmetrical onset of upper limb clumsiness, more often involving the left side, later involving the contralateral side and lower limbs; 2) after a variable delay, the occurrence of symptoms suggesting subcortical involvement (akinesia, limb stiffness, various kinds of movement disorders, dystonia, paresis of vertical gaze); 3) diffuse cortical atrophy typically more pronounced in the superior parietal cortex opposite to the first side affected. The unusual nature of apraxia in all these cases is pointed out and referred to as Luria's "kinesthaesic apraxia", ascribed to a loss of "selectivity" of distal elementary movements. This pattern of symptoms and their specific outcome could represent a distinct entity.
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PMID:[Characterization of gestural disorders in primary progressive apraxia: diagnostic and nosographic contribution]. 859 46

Corticobasal degeneration (CBD) was first reported by Rebeiz et al as corticodentatonigral degeneration with neuronal achromasia in 1967. After Gibb et al described 7 cases including 4 cases from the literature under the term of corticobasal degeneration, CBD has become widely recognized. The disease starts mainly in one's fifties and sixties with the duration of 6 to 7 years. The clinical features include asymmetric parkinsonism, cerebral cortical signs, and others. Typically, patients present with unilateral clumsiness with akinetic-rigid syndrome and limb-kinetic apraxia. Postural instability, gait disturbance and involuntary movements such as dystonia are not uncommon. The parkinsonism is DOPA-resistant. BEsides apraxia, alien limb syndrome, cortical sensory disturbances, frontal lobe-release signs, and dementia are representative cortical signs. Other clinical features include dysarthria, pyramidal tract signs and supranuclear gaze palsy. MRI, SPECT or PET reveals asymmetric atrophy, decrease in blood flow or reduction in metabolism of the frontal parietal region around the central sulcus. Electrophysiological and magnetic stimulation studies demonstrated increase in excitability of the cerebral cortex. Myoclonus in CBD is cortical in origin but without any preceding potential or giant somatosensory evoked potential. Neuropathologically CBD is characterized by involvement of the particular cortices and substantia nigra. Other structures such as the putamen, pallidum, thalamus, subthalamus, cerebellar dentate nucleus and brainstem are affected to various extents. Histological features include achromatic, ballooned neurons as well as tau and Gallyas positive neuronal and glial intracytoplasmic inclusions. Astrocytic plaque is considered to be a form of glial inclusions specific to CBD. Diagnosis of typical cases of CBD appears easy but atypical cases were reported with showed dementia or aphasia as a main feature, or were devoid of the asymmetry of signs and symptoms. CBD, progressive supranuclear palsy and Pick's disease share both clinical and neuropathological features to some extent while they are clearly distinct among typical cases. The etiology and pathomechanism of CBD remain to be elucidated.
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PMID:[Corticobasal degeneration]. 957 68

We report a 66-year-old woman clinically diagnosed as having a corticobasal degeneration (CBD), who showed electrophysiologically cortical reflex myoclonus. She developed a clumsiness and action myoclonus on the right extremities, and aphasia. The extrapyramidal signs such as dystonia and rigidity were also noted on the right side. Sequential MR images showed a progressive brain atrophy in the left frontoparietal area, where a blood perfusion was reduced on single photon emission computed tomography (SPECT). The median nerve stimulation on the affected right side, but not left side, elicited an enhanced long-loop reflex. The onset latency of the long-loop reflex (43.8msec) was similar to that of the reported cases of CBD (Thompson et al, 1994); but, significantly shorter than that reported in the patients with typical cortical reflex myoclonus. The right median nerve stimulation also elicited so-called giant somatosensory evoked potentials (SEPs). On the basis of the scalp topography of the giant SEPs, we found the high amplitude central P22-N30 components to reflect a radial dipole. We also recorded the myoclonus-related cortical spike by jerk-locked back averaging. Both the giant SEP and myoclonus-related cortical spike were recorded only on the left scalp. We therefore suggest that these two cortical activities are similar in terms of wave form, scalp topography and time relationship to either the long-loop reflex or myoclonus and may be located in the precentral area. This is the first report of a patient with CBD presenting both the giant SEP and myoclonus-related cortical spike.
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PMID:[A case of clinically diagnosed corticobasal degeneration with unilateral cortical reflex myoclonus showing so-called giant SEP]. 1054 7

A 52-year-old man with clinically diagnosed corticobasal degeneration (CBD) who developed the asymmetric akinetic-rigid syndrome was studied by means of transcranial magnetic stimulation (TMS) after an interval of two years. TMS of the motor cortex during tonic muscle contraction causes a silent period immediately after a motor evoked potential in an electromyogram. This silent period is considered to reflect activity of an intracortical inhibitory mechanism. In this patient, the motor symptoms started from the left half of the body and spread to the right. The major neurological findings were dystonia, rigidity, clumsiness, and hyperreflexia. The involuntary contraction of the muscles, which was unrelated to voluntary movement, seemed to be responsible for his signs and symptoms. There was laterality of the threshold intensity and the duration of the silent period after a motor evoked potential; the threshold was higher and the duration was shorter on the affected side. Also, we found that the threshold increased and the duration decreased as his motor dysfunction progressed, which has not been reported before. A comparison of the clinical symptoms and the results of TMS in this case together with previous TMS data on CBD suggests that a disorder of the intracortical inhibitory mechanism is closely related to the movement impairment in CBD.
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PMID:[Intracranial inhibitory mechanisms in clinically diagnosed corticobasal degeneration: a study of a silent period followed by transcranial magnetic stimulation]. 1118 8


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