Dystonia-parkinsonism syndrome resulting from a bullet injury in the midbrain.
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Adult↗
Biomedical subjects
J de Recondo
Publications and source records attributed to J de Recondo.
Autosomal dominant familial spastic paraplegia is genetically heterogeneous and one locus maps to chromosome 14q.
Autosomal dominant familial spastic paraplegia (FSP) is a degenerative disorder of unknown aetiology characterized by a progressive spasticity of the legs. Three families with autosomal dominant FSP of early onset were analysed in linkage studies using highly polymorphic microsatellite markers. Close linkage to a group of markers on chromosome 14q (maximum multipoint lodscore z = 10) was observed in one family. This chromosome 14q candidate region was entirely excluded in the two other families, providing evidence of genetic heterogeneity within a homogeneous clinical form of FSP.
Adult↗
Atrial septal aneurysm and patent foramen ovale as risk factors for cryptogenic stroke in patients less than 55 years of age. A study using transesophageal echocardiography.
BACKGROUND AND PURPOSE: An association between atrial septal aneurysm and embolic events has been suggested. Atrial septal aneurysm has been shown to be associated with patent foramen ovale and, in some reports, with mitral valve prolapse. These two latter cardiac disorders have been identified as potential risk factors for ischemic stroke. The aim of this prospective study was to assess the role of atrial septal aneurysm as an independent risk factor for stroke, especially for cryptogenic stroke. METHODS: We studied the prevalence of atrial septal aneurysm, patent foramen ovale, and mitral valve prolapse in 100 consecutive patients < 55 years of age with ischemic stroke who underwent extensive etiological investigations. We compared these results with those in a control group of 50 consecutive patients. The diagnosis of atrial septal aneurysm and patent foramen ovale relied on transesophageal echocardiography with a contrast study and that of mitral valve prolapse, on two-dimensional transthoracic echocardiography. RESULTS: Stepwise logistic regression analysis showed that atrial septal aneurysm (odds ratio, 4.3; 95% confidence interval, 1.3 to 14.6; P = .01) and patent foramen ovale (odds ratio, 3.9; 95% confidence interval, 1.5 to 10; P = .003) but not mitral valve prolapse were significantly associated with the diagnosis of cryptogenic stroke. The stroke odds of a patient with both atrial septal aneurysm and patent foramen ovale were 33.3 times (95% confidence interval, 4.1 to 270) the stroke odds of a patient with neither of these cardiac disorders. For a patient with atrial septal aneurysm of > 10-mm excursion, the stroke odds were approximately 8 times the stroke odds of a patient with atrial septal aneurysm of < 10 mm. CONCLUSIONS: This study shows that atrial septal aneurysm and patent foramen ovale are both significantly associated with cryptogenic stroke and that their association has a marked synergistic effect. Atrial septal aneurysms of > 10-mm excursion are associated with a higher risk of stroke.
Adolescent↗
Botulinum antibodies in dystonic patients treated with type A botulinum toxin: frequency and significance.
We measured serum antibodies to botulinum toxin (ABT) in 96 patients with focal dystonia who had been treated with type A botulinum toxin. The frequency of detectable ABT was 3% (three patients). Patients with ABT had received more than 50 ng of botulinum toxin, and the shortest time between two injections was significantly less than in patients without ABT. The clinical evolution of the three patients was heterogeneous: one had decreased effectiveness with repeated injections, another had persistent improvement, and the third never responded to toxin injections.
Adolescent↗
Clinical and genetic heterogeneity of Charcot-Marie-Tooth disease.
The autosomal dominant forms of hereditary motor and sensory neuropathies include the hypertrophic form (CMT1) and the neuronal form of Charcot-Marie-Tooth disease (CMT2). While at least two distinct loci have been shown to be linked to the CMT1 phenotype (CMT1A and CMT1B, on chromosomes 17 and 1, respectively), whether the CMT2 phenotype results from mutations allelic to either of the CMT1 genes remains unknown. Studying one CMT1 and two CMT2 pedigrees, we were able to exclude the CMT2 disease locus from the region of chromosome 17 (Z = -2.80 at theta = 0.05 for D17S58) where the CMT1A gene maps (Z = +3.67 at theta = 0.00). Similarly, negative lod score values were obtained in CMT2 for the region of chromosome 1 where the CMT1B gene has been located (Z = -3.09 at theta = 0.05 for D1S61). The present study therefore provides evidence for genetic heterogeneity between the hypertrophic and the neuronal forms of Charcot-Marie-Tooth disease and demonstrates that the CMT2 gene is not allelic to either of the CMT1 genes mapped to date.
Charcot-Marie-Tooth Disease↗
A familial disorder with subcortical ischemic strokes, dementia, and leukoencephalopathy.
A family had a disorder characterized by (1) a pattern suggestive of autosomal dominant inheritance, (2) recurrent attacks of focal brain deficits starting in mid adulthood and often leading to severe motor disability with pseudobulbar palsy and dementia of the subcortical type, and (3) neuroimaging evidence of leukoencephalopathy and well-circumscribed lesions consistent with small deep infarcts. Some affected members were clinically asymptomatic but had MRI signs of leukoencephalopathy. Extensive investigations failed to uncover a previously described recognizable genetic disorder.
Adult↗
[Meningoradiculitis after injection of an antirabies vaccine. A vaccine from human diploid cell culture].
We report the case of a 45-year old farmer who developed meningoradiculitis after preventive anti-rabies vaccination with a vaccine obtained from human diploid cell culture. Two weeks after the second injection of vaccine, the patient complained of sensory symptoms in the right half of his body. These symptoms spontaneously regressed. The literature is reviewed and the physiopathological hypotheses are discussed.
Humans↗
A comparative technetium 99m hexamethylpropylene amine oxime SPET study in different types of dementia.
Regional cerebral perfusion was evaluated by single photon emission computed tomography (SPET) using technetium 99m hexamethylpropylene amine oxime (99mTc-HMPAO) as a tracer, in 13 control subjects and 44 age-matched patients suffering from dementia of the Alzheimer's type (DAT, n = 19), presumed Pick's disease (n = 5), idiopathic Parkinson's disease with dementia (DPD, n = 15) and progressive supranuclear palsy (PSP, n = 5). HMPAO uptake was measured in the superior frontal, inferior frontal, parietal, temporal and occipital cortices, and the perfusion values were expressed as cortical/cerebellar activity ratios. As compared with controls, tracer uptake ratios in the DAT group were significantly reduced over all cortical regions, with the largest defects in the parieto-temporal and superior frontal cortices. A marked hypoperfusion affecting the superior and inferior frontal cortices was found in Pick's disease, whereas a mild but significant hypoperfusion was observed only in the superior frontal cortex of patients with PSP. In the DPD group, HMPAO uptake was significantly reduced in the parietal, temporal and occipital cortices, but not in the frontal cortex. These results show that DAT and DPD share an opposite anteroposterior HMPAO uptake defect as compared with the Pick's and PSP groups.
Aged↗
Intravascular lymphomatosis (neoplastic angioendotheliosis) of the central nervous system: case report and literature review.
A 63-year-old woman developed gradual slowness, recurrent multifocal deficits, severe constitutional symptoms and hypopituitarism which progressed to death over 2.5 months. Elevation in lactico dehydrogenases was the main biological abnormality. Necropsy showed an intravascular malignant proliferation which proved to be a lymphoma of B-lineage. In order to better define diagnostic criteria, we reviewed previously reported cases of intravascular lymphomatosis of the central nervous system. A strategy for establishing the diagnosis is proposed.
Blood Vessels↗
Postradiation lower motor neuron syndrome presenting as monomelic amyotrophy.
Monomelic amyotrophy developed 16 months, nine and 12 years after irradiation of the lumbosacral spinal cord for seminoma in one patient and for Hodgkin's disease in two others. In two patients, involvement was clinically limited to one leg, with a subacute course followed by plateau in the first case and with progressive worsening in the second one. In the third patient, the course was progressive with involvement of the other lower limb occurring five years later. From clinical and electrophysiological data, it seems probable that the disease process was a result of a selective injury to the lower motor neuron in the lower spinal cord.
Adult↗
(99mTc)-HM-PAO SPECT and cognitive impairment in Parkinson's disease: a comparison with dementia of the Alzheimer type.
Regional cerebral perfusion was evaluated by single photon emission tomography (SPECT) using (99mTc)-HM-PAO as a tracer, in thirty Parkinsonian patients with (n = 15) or without (n = 15) dementia, nineteen patients with dementia of the Alzheimer type (DAT) and thirteen control subjects. HM-PAO uptake was measured in the frontal, parietal, temporal and occipital cortex and tracer perfusion was expressed as cortical/cerebellar activity ratios. Regional HM-PAO ratios in nondemented Parkinsonian patients did not differ from controls, whereas in demented patients with Parkinson's disease (DPD) a significant reduction was found in the parietal, temporal and occipital cortex. Tracer uptake ratios were significantly reduced in all regions in the DAT group. Thus DPD and DAT shared a common pattern of marked posterior hypoperfusion, although the perfusion defect was greater and more extensive in the DAT patients.
Aged↗
[Late postpartum eclampsia, myth or reality?].
It has never been formally established whether eclampsia can come on more than 48 hours after delivery. We report a case of a patient who had convulsions together with transitory raised blood pressure coming on 14 days after her delivery. MRI was carried out 24 hours after the attack and showed pathological sub-cortical images and there was a hyper signal at T2. This is now a well known feature and has been described in the course of typical eclampsia fits. On the other hand MRI is able to eliminate a certain number of differential diagnoses such as cerebral thrombophlebitis, cerebral vascular accidents and tumours. A cerebral blood flow study and a trans-cranial Doppler flow study showed (as far as we know for the first time) a lessening in perfusion and in speed of flow giving rise to lowered blood circulation in that part of the brain and suggestive of vascular spasm. This observation makes it very likely that eclamptic crises can occur two weeks after delivery and favours a vascular spasm being the origin of these crises.
Adult↗
[Neurogenic, medullary, cerebellar, myogenic syndrome. Diagnostic orientation and management].
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Cerebellar Diseases↗
[Cerebellar atrophies].
Cerebellar atrophy is often discovered at computerized tomography or MRI of the brain, but its exact cause is frequently difficult to determine. Alcoholism is the predominant factor, but numerous other diseases may also be considered. The diseases fall into two main categories: primary cerebellar degeneration with, in particular, olivo-ponto-cerebellar atrophy, and acquired atrophy which may be of paraneoplastic or endocrine origin or caused by toxic agents other than alcohol. In this review paper the stress is placed on the clinical, paraclinical and histological distinctive features of the different types of cerebellar atrophy. The modalities of onset and the course of these lesions are of particular importance. The authors propose a practical aid to the diagnosis in the form of a deliberately simplified diagram.
Atrophy↗
[X-ray computed tomography of lumbosacral roots and primary hypertrophic neuritis (Dejerine-Sottas disease)].
CT without contrast of lumbosacral nerve roots was performed in 13 patients with peroneal atrophy and 28 control subjects. Two series of 5 mm serial sections parallel to the plane of the disk were examined at the L4-L5 and L5-S1 levels, and the transverse diameter of the S1 nerve roots measured at the lower part of the lateral recess. Results showed frank bilateral, grossly symmetrical hypertrophy of lumbosacral roots in 8 of the 13 patients. This hypertrophy involved all roots examined (L4, L5, S1), except in one case where only S1 roots were involved. Hypertrophy was often more marked on the distal part of the roots and on spinal nerves, contrasting with the sometimes normal or only slightly altered appearance of the nerve roots emerging from the dural sac. In these 8 cases, the diameter of the S1 nerve roots was 8 to 18 mm, in contrast to a mean of 3.5 +/- 1 mm in the 28 controls. CT scan images were normal in the remaining 5 patients. The presence of a CT image of nerve hypertrophy was in all cases associated with a marked fall in nerve conduction rate (median nerve motor conduction rate less than 25 msec-1), and a decrease in number of myelinated fibers with numerous onion bulbs. In contrast, the absence of CT nerve hypertrophy could not predict the results of electrophysiological and histological examinations.
Adult↗
Ageing and Parkinson's disease.
Based on the examination of 400 patients suffering from Parkinson's disease, the main symptoms of motor and brain ageing have been underlined. Motor ageing is evidenced by the importance of akinesis, while rigor and quaking are limited, and by the arrival of dystonic attitudes which tend to last. Brain ageing is revealed by memory disturbances, mental disorders and delusions without phasic or praxis troubles. The comparative study of different types of dementia did not allow clinical or anatomopathological confirmation.
Aged↗
[Bilateral thalamic infarcts with abnormal movements and permanent amnesia].
A 45 year-old woman with mitral valve disease developed bilateral thalamic infarcts presenting as vigilance disorders, with mutism and downwards gaze paralysis during several days, followed by involuntary rhythmic movements over 13 days. These movements affected the four limbs with a rhythm variable with time as alternate or synchronized agonist-antagonist periods. Subsequent examinations demonstrated global, lasting amnesia and a subclinical disorder of vertical ocular movements. Repeat CT scan confirmed the presence of bilateral anterior thalamic infarcts affecting polar and/or paramedian territories. Emphasis is placed on the similarity of the abnormal movements in this case with L-dopa induced involuntary movements.
Amnesia↗
[Agenesis of the corpus callosum in a man with complete mosaic trisomy 8].
The coexistence in an epileptic patient of a radiologically confirmed agenesis of the corpus callosum and other somatic abnormalities, notably skeletal, prompted us to perform a karyotype which showed an extra chromosome 8. The trisomy 8-callosal agenesis association is not exceptional, but it may easily be missed owing to the absence or scarcity of clinical signs of the cerebral malformation. We would suggest that patients with confirmed agenesis of the corpus callosum should be investigated for trisomy 8 and conversely, that patients with trisomy 8 detected during examination for a characteristic malformative syndrome should be systematically investigated for abnormality of the neocortical commissure.
Adult↗