1/17. Familial association of camptodactyly, mental retardation, whistling face and Pierre Robin sequence.Two sibs are reported with severe developmental retardation combined with the clinical triad of camptodactyly, whistling face and Pierre Robin sequence as clinical signs of fetal hypokinesia. In spite of tracheotomy, the first child of the family died 10 hours after birth. A sister of this child was born 1 year later. During pregnancy prenatal diagnosis of hydrocephaly was made by ultrasonographic examination. MRI scan showed holoprosencephaly. At 15 months of age psychomotor development is severely impaired, birth and length are delayed.- - - - - - - - - - ranking = 1keywords = motor (Clic here for more details about this article) |
2/17. Marden-Walker syndrome: case report, nosologic discussion and aspects of counseling.The Marden-Walker syndrome is characterized by a mask-like face with blepharophimosis, micrognathia, cleft or high-arched palate, low-set ears, congenital joint contractures, decreased muscular mass, failure to thrive and psychomotor retardation. We report a boy with a phenotype mostly resembling the condition named Marden-Walker syndrome, with many of the criteria proposed for diagnosing this particular phenotype. In addition he had hypoplastic corpus callosum, cerebellar vermis hypoplasia, enlarged cisterna magna and vertebral abnormalities. During pregnancy there were reduced fetal movements. In the present patient the fetal hypokinesia sequence, due to central nervous system malformation, is most compatible with the diagnosis of Marden-Walker syndrome. The etiology is probably heterogeneous, but the possibility of autosomal recessive inheritance should be considered in genetic counseling.- - - - - - - - - - ranking = 1keywords = motor (Clic here for more details about this article) |
3/17. Akathisia masked by hypokinesia.Here, we will discuss the concept of subjective akathisia and present a patient case. Our patient was suffering from neuroleptic-induced hypokinesia and akathisia at the same time. The typical motor manifestations of akathisia were masked by hypokinesia, which made the diagnosis difficult. However, the subjective symptoms of akathisia were evident and distressing. Although not observable to bare eye, the pathognomonic pattern of motor activity detected in akathisia was demonstrated by actometric recording. Changing the conventional neuroleptic to an atypical one brought relief to the subjective symptoms of akathisia and hypokinesia, while the motor activity was clearly diminished in actometric recording. Actometric recording may be useful in diagnosing akathisia masked by hypokinesia, but the typical subjective symptoms of akathisia should not be ignored, even when actometry is not available to demonstrate the missing motor component of akathisia. Not only akathisia defined by DSM-IV but also subjective akathisia should be adequately treated to relieve the subjective distress, and to diminish the unfavorable effects on psychotic symptoms, behavior, and drug compliance.- - - - - - - - - - ranking = 4keywords = motor (Clic here for more details about this article) |
4/17. Involuntary movements after anterior cerebral artery territory infarction.BACKGROUND AND PURPOSE: patients with anterior cerebral artery territory infarction presenting with involuntary movements have rarely been described in the literature. CASE DESCRIPTIONS: The author reports 9 such patients: 3 with asterixis, 5 with hemiparkinsonism (tremor, rigidity, hypokinesia), and 1 with both. Asterixis developed in the acute stage in patients with minimal arm weakness, whereas parkinsonism was usually observed after the motor dysfunction improved in patients with initially severe limb weakness. Asterixis correlated with small lesions preferentially involving the prefrontal area; parkinsonism is related to relatively large lesions involving the supplementary motor area. CONCLUSIONS: anterior cerebral artery territory infarction should be included in the differential diagnosis of asterixis and hemiparkinsonism.- - - - - - - - - - ranking = 2keywords = motor (Clic here for more details about this article) |
5/17. Pramipexole ameliorates neurologic and psychiatric symptoms in a Westphal variant of Huntington's disease.levodopa is recommended as a therapeutic approach for patients with the hypokinetic-rigid, Westphal variant of Huntington's disease, but no guidelines are available for the case of nonrespondence to levodopa. In this study, however, we report a 34-year-old woman with this rare variant who showed a clear-cut improvement in motor function and depressive symptoms after treatment with pramipexole, a new dopamine agonist.- - - - - - - - - - ranking = 1keywords = motor (Clic here for more details about this article) |
6/17. A clinical and pathological study of a Japanese case of amyotrophic lateral sclerosis/Parkinsonism-Dementia Complex with family history.This report concerns a Japanese family with neuropathological findings consistent with amyotrophic lateral sclerosis/parkinsonism-dementia complex (ALS/PDC) in the Island of guam. The proband was a 68-year-old woman with an 8-year history of parkinsonism which was followed by psychiatric symptoms and neurogenic amyotrophy 5 years after the onset. She had a family history of parkinsonism associated with dementia in all of her three siblings. They grew up in the Hobara village, a focus of amyotrophic lateral sclerosis in the Kii Peninsula of japan in their childhood. Their parents were not consanguineous nor natives of the Kii Peninsula. The brain weight was 1040 g and there were mild frontal lobe atrophy, moderate atrophy of pes hippocampi, decoloration of the substantia nigra and locus coeruleus, and atrophy of the anterior root of the spinal cord. The microscopic examinations revealed degeneration of CA1 portion of the hippocampus to the parahippocampus gyrus, substantia nigra, locus coeruleus and spinal anterior horn with Bunina bodies. The spinal pyramidal tracts also mildly degenerated. neurofibrillary tangles (NFT) were observed in the cerebral cortex, especially in the cortices from hippocampus to lateral occipitotemporal gyri, basal nucleus of Mynert, basal ganglia, thalamus, substantia nigra and widespread regions of the central nervous system through the brainstem to spinal cord including the nucleus of Onufrowitcz. In spite of a small amount of the senile plaques in the cerebral cortex and lewy bodies in the substantia nigra and locus coeruleus, abundant NFT were distributed mainly in the third layer of the cerebral cortex, which is the characteristic feature of ALS/PDC. Thus, this was likely to be an ALS/PDC case outside the guam Island. A tau mutation was not found on dna analysis.- - - - - - - - - - ranking = 6166.5160341773keywords = amyotrophic lateral sclerosis, lateral sclerosis, amyotrophic lateral, amyotrophic, sclerosis, lateral (Clic here for more details about this article) |
7/17. Gaucher's disease with Parkinson's disease: clinical and pathological aspects.The association between type 1 gaucher disease and PD has been reported in the literature. The clinical picture is characterized by the predominance of bilateral akinetic-rigid signs and poor response to levodopa therapy. The authors describe four patients (two siblings) with type 1 gaucher disease presenting with the following signs of typical PD: asymmetric onset of rigidity, resting tremor, bradykinesia, and a favorable response to Parkinson therapies.- - - - - - - - - - ranking = 0.9263580935211keywords = lateral (Clic here for more details about this article) |
8/17. A compensatory mechanism in unilateral akinetic-rigid syndrome: an fMRI study.The motor mechanisms of a patient with unilateral hand clumsiness in the early stages of akinetic-rigid syndrome were assessed by functional magnetic resonance imaging (fMRI). Movements of the unaffected hand produced activation in the contralateral sensorimotor cortex (SMC) and ipsilateral SMC and superior parietal lobule (SPL). The affected hand activated the bilateral SMCs, supplementary motor areas, and SPLs. We speculated that the bilateral activation indicated recruitment of a pre-existing bilaterally organized large-scale neural network to perform the motor task.- - - - - - - - - - ranking = 13.263580935211keywords = motor, lateral (Clic here for more details about this article) |
9/17. Is the immobility of advanced dementia a form of lorazepam-responsive catatonia?patients with end-stage dementia typically are very immobilized. Could this state actually be a form of lorazepam-responsive catatonia? catatonia has been documented following cerebrovascular accidents, head injury, hiv encephalitis, brain tumors, and multiple sclerosis. Identified anatomical substrates include frontal lobes, parietal lobes, limbic system, diencephalon, and basal ganglia. Given that Alzheimer's disease, vascular dementia, Lewy body dementia, corticobasal degeneration, frontotemporal dementia, and Parkinsonian dementia often have degeneration in some of the same areas, dramatic awakenings might be possible by giving lorazepam challenges to locked-in dementia patients. If even a small percentage were lorazepam responders, the impact worldwide would be tremendous. Serious consideration should be given to undertaking large-scale clinical trials.- - - - - - - - - - ranking = 2.8004314417306keywords = sclerosis (Clic here for more details about this article) |
10/17. Primary lateral sclerosis presenting parkinsonian symptoms without nigrostriatal involvement.We encountered three patients with primary lateral sclerosis (PLS) showing bradykinesia, frozen gait, and severe postural instability, as well as slowly progressive spinobulbar spasticity. Cranial magnetic resonance (MR) imaging showed precentral gyrus atrophy. Central motor conduction was markedly prolonged or failed to evoke a response. Positron emission tomography (PET) showed significant reduction of [18F]fluoro-2-deoxy-D-glucose uptake in the area of the precentral gyrus extending to the prefrontal, medial frontal, and cingulate areas. No abnormalities were seen in the nigrostriatal system with PET using [18F]fluorodopa or [11C]raclopride or with proton MR spectroscopy. Thus, widespread prefrontal, medial, and cingulate frontal lobe involvement can be associated with the parkinsonian symptoms in PLS.- - - - - - - - - - ranking = 5648.4410220834keywords = lateral sclerosis, sclerosis, motor, lateral (Clic here for more details about this article) |
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