[Crossed anarthria and a dissociated lateralisation of language]. / Anarthrie croisée et latéralisation dissociée du langage.

INTRODUCTION: Crossed anarthria cases are uncommon and rather old. OBSERVATION: We report the case of a right-handed 55-year-old man who presented crossed pure anarthria due to a hemorrhage in the premotor cortex (feet of F1 and F2) and in the high part of Pierre-Marie's quadrangle. CONCLUSION: The study of different tasks (articulation, verbal fluency, direct object word-generation from a verb) showed a dissociated lateralisation of his language. Lexico-semantic and grammatical tasks are processed in the left hemisphere. Articulation programming occurs in the right hemisphere.

[Intramedullary spinal cord metastasis: is there a place for surgery? Case report and review of literature]. / Métastases intramédullaires de cancers viscéraux: quelle place pour la chirurgie? Revue de la littérature à propos d'un cas.

BACKGROUND AND PURPOSE: The usual onset of intramedullary spinal cord metastases at an advanced stage of cancer disease explains that surgical removal of such lesions is rarely performed. We tried to define the place for surgery in the management of such lesions. METHODS: We report the observation of a 52-year-old male patient presenting with a metastasis of the conus medullaris revealing a lung cancer. Surgical excision of the lesion led to pain relief and improvement of bladder dysfunction. We present a review of pertinent literature. RESULTS: Surgery allows histological diagnosis in case of isolated, revealing tumor. In other selected cases, radical removal of intramedullary metastases could improve the quality and comfort of life although it does not seem to affect the duration of survival.

Association between the Glu298Asp polymorphism in the endothelial constitutive nitric oxide synthase gene and brain infarction. The GENIC Investigators.

BACKGROUND AND PURPOSE: Nitric oxide (NO) synthesized by endothelial constitutive NO synthase (ecNOS) plays a key role in vascular regulation and atherosclerosis. Little is known concerning the role of the ecNOS gene (NOS3) as a risk factor for brain infarction (BI). Our aim was to investigate the relation between the Glu298Asp polymorphism in exon 7 of NOS3 with BI and its subtypes. METHODS: Patients (n=460; cases) with BI were consecutively recruited and classified into etiological subtypes. Control subjects (n=460; controls) without a history of stroke were recruited among individuals hospitalized at the same institutions and individually matched on age, sex, and center. Genotypes of the polymorphism were determined by polymerase chain reaction. RESULTS: The distribution of genotypes was significantly different between cases and controls (P=0.008); the GG genotype was more frequent in cases (46.1%) than in controls (35.4%; OR, 1.56; 95% CI, 1.19 to 2.04). Among subtypes, the frequency of the GG genotype was significantly higher in cases than in controls in the lacunar subtype (OR, 2.00; 95% CI, 1.05 to 3. 80); in this group, the relation between BI and LDL level was stronger among carriers of the GG genotype than among noncarriers (P for interaction, 0.05). CONCLUSIONS: Homozygosity for the G allele of the Glu298Asp polymorphism in NOS3 was associated with BI, and especially with lacunar stroke. Our findings suggest that genetic susceptibility and LDL cholesterol have a synergistic relation. Although these findings should be replicated in a larger sample of subjects and the functionality of the Glu298Asp polymorphism has not been established, these results may help us to understand the cause of the arteriolopathy underlying lacunae and have future implications in their treatment and prevention.

Common carotid artery intima-media thickness and brain infarction : the Etude du Profil Génétique de l'Infarctus Cérébral (GENIC) case-control study. The GENIC Investigators.

BACKGROUND-The use of intima-media thickness (IMT) as an outcome measure in observational studies and intervention trials relies on the view that it reflects early stages of atherosclerosis and cardiovascular risk. There is little knowledge concerning the relation between IMT and brain infarction (BI). METHODS AND RESULTS-We investigated the relation of IMT with BI and its subtypes in 470 cases and 463 controls. Cases with BI proven by MRI were consecutively recruited and classified into subtypes by cause of BI. Controls were recruited among individuals hospitalized at the same institutions and matched for age, sex, and center. IMT was measured at the far wall of both common carotid arteries (CCA) using an automatic detection system. Adventitia-to-adventitia diameters and CCA-IMT were measured on transverse views; lumen diameter was computed using these measures. Mean (+/-SEM) CCA-IMT was higher in cases (0.797+/-0.006 mm) than in controls (0.735+/-0.006 mm; P<0. 0001). This difference remained after adjustment for lumen diameter and when analyses were restricted to subjects free of previous cardiovascular or cerebrovascular history. The difference in CCA-IMT between cases and controls was significant in the main subtypes. The risk of BI increased continuously with increasing CCA-IMT. The odds ratio per SD increase (0.150 mm) was 1.82 (95% confidence interval, 1.54 to 2.15); adjustment for cardiovascular risk factors slightly attenuated this relation (odds ratio, 1.73; 95% confidence interval, 1.45 to 2.07). CONCLUSIONS-An increased CCA-IMT was associated with BI, both overall and in the main subtypes. An increased IMT may help select patients at high risk for BI.

Status-like recurrent pilomotor seizures: case report and review of the literature.

A diabetic 66 year old man who presented with pilomotor seizures in his right hemibody is described. The seizures recurred with an increasing frequency, leading to a status-like condition associated with Korsakoff's syndrome. An EEG was performed and several electroclinical seizures were recorded. Brain MRI was negative. The patient, who was treated with carbamazepine, became seizure free after 1 week. Memory and behaviour gradually returned to normal within 3 weeks. There was no further neurological episode during an 8 year follow up. Hyperosmolar, non-ketotic hyperglycaemia was considered to be the cause of the seizures. The pathophysiology of pilomotor seizures is discussed and the literature on the subject reviewed.

The association between the Val34Leu polymorphism in the factor XIII gene and brain infarction.

Factor XIII catalyzes the formation of covalent bounds between fibrin monomers, thus stabilizing the fibrin clot and increasing its resistance to fibrinolysis. The frequency of a frequent Val34Leu polymorphism in the FXIII A-subunit gene has been shown to be lower in patients with myocardial infarction or venous thrombosis than in controls, whereas it was higher in patients with hemorrhagic stroke than in controls. Our aim was to study the relation between brain infarction (BI) and the FXIII Val34Leu polymorphism in 456 patients consecutively recruited with a BI confirmed by MRI, and 456 matched controls. The distribution of genotypes was different in cases (63. 2% Val/Val; 30.9% Val/Leu; 5.9% Leu/Leu) compared with controls (49. 8% Val/Val; 42.8% Val/Leu; 7.4% Leu/Leu; P <.001). Carrying the Leu allele was associated with an OR of 0.58 (95% CI = 0.44-0.75). A similar association was observed in cases and controls free of previous cardiovascular or cerebrovascular history (OR = 0.51; 95% CI = 0.36-0.73). No heterogeneity of this association was observed after stratification on the main BI subtypes. Adjustment for traditional vascular risk factors did not modify these findings. In addition, the effect of smoking was modified by the polymorphism (P =.05); the effect of smoking was weaker among Leu carriers than among noncarriers. In conclusion, there was a negative association of the FXIII Val34Leu polymorphism with BI, thus suggesting a protective effect of the Leu allele against thrombotic cerebral artery occlusion. In addition, our results suggest that among Leu carriers, the protective effect of the polymorphism outweighed the effect of smoking. (Blood. 2000;95:586-591)

[Superficial siderosis of the central nervous system]. / Hémosidérose du système nerveux central.

We report five cases of superficial siderosis of the central nervous system. All patients developed progressive deafness and cerebellar ataxia associated with pyramidal tract signs or mental deterioration. The cerebrospinal fluid examinations usually revealed an elevated protein level, without other abnormalities. Magnetic resonance imaging typically showed a hypointense rim around the cerebral and cerebellar hemispheres, the brainstem and the spinal cord on T2-weighted images. A definite source of bleeding was only found in two patients. The literature on superficial siderosis is reviewed. The etiologies and the pathogenesis are discussed.

Clinicopathologic findings and prognosis of chronic inflammatory demyelinating polyneuropathy.

OBJECTIVE: To evaluate the clinicopathologic features and prognostic factors of 100 patients with chronic inflammatory demyelinating polyneuropathy (CIDP). METHODS: Comparison of clinical and biopsy findings with functional score evaluated an average of 6 years after referral. RESULTS: CIDP followed a relapsing course in 14% of the patients and a progressive course in 45%. After progressive onset, little change was noted during follow-up in the others. Five patients had symptomatic involvement of the CNS. Teased fiber preparations of nerve biopsy specimens showed that 68 patients had purely demyelinative lesions, 20 had mixed axonal and demyelinative lesions, and 5 had predominantly axonal lesions. Axonal loss was a common finding, with 47% of the patients retaining less than half of the normal density of fibers. Inflammatory infiltrates, found in 18 samples, were prominent only in 4. Of the 83 patients evaluated an average of 6 years after onset, 56 were in good condition; 24 had deteriorated and failed to respond to treatment, including 9 patients who died as a consequence of their neurologic deficit. Progressive course, CNS involvement, high proportion of fibers showing active demyelination on nerve biopsy, and axonal loss overall correlated with higher disability. CONCLUSION: Axonal loss is the major long-term pejorative prognostic factor in CIDP.

Recurrence of the T666M calcium channel CACNA1A gene mutation in familial hemiplegic migraine with progressive cerebellar ataxia.

Familial hemiplegic migraine (HM) is an autosomal dominant migraine with aura. In 20% of HM families, HM is associated with a mild permanent cerebellar ataxia (PCA). The CACNA1A gene encoding the alpha1A subunit of P/Q-type voltage-gated calcium channels is involved in 50% of unselected HM families and in all families with HM/PCA. Four CACNA1A missense mutations have been identified in HM: two in pure HM and two in HM/PCA. Different CACNA1A mutations have been identified in other autosomal dominant conditions: mutations leading to a truncated protein in episodic ataxia type 2 (EA2), small expansions of a CAG trinucleotide in spinocerebellar ataxia type 6 and also in three families with EA2 features, and, finally, a missense mutation in a single family suffering from episodic ataxia and severe progressive PCA. We screened 16 families and 3 nonfamilial case patients affected by HM/PCA for specific CACNA1A mutations and found nine families and one nonfamilial case with the same T666M mutation, one new mutation (D715E) in one family, and no CAG repeat expansion. Both T666M and D715E substitutions were absent in 12 probands belonging to pure HM families whose disease appears to be linked to CACNA1A. Finally, haplotyping with neighboring markers suggested that T666M arose through recurrent mutational events. These data could indicate that the PCA observed in 20% of HM families results from specific pathophysiologic mechanisms.

Coagulation studies, factor V Leiden, and anticardiolipin antibodies in 40 cases of cerebral venous thrombosis.

BACKGROUND AND PURPOSE: Cerebral venous thrombosis (CVT) is an infrequent condition with a large variety of causes. However, in 20% to 35% of cases, no cause is found. We studied coagulation parameters, including activated protein C resistance associated with factor V gene mutation (factor V Leiden) and anticardiolipin antibodies, in a large series of patients with CVT with or without identified cause or risk factor. METHODS: Forty patients (30 women and 10 men) aged 19 to 71 years (mean age, 36.2 years) with CVT diagnosed by angiography and/or MRI were studied 1 to 18 years after thrombosis. No known cause was found in 10 idiopathic cases. Coagulation studies included the following tests: fibrinogen, antithrombin, protein C, protein S, plasminogen, anticardiolipin antibodies, activated protein C resistance, and factor V Leiden. RESULTS: Six cases of thrombophilia (15%) were found: 1 protein C deficiency, 1 protein S deficiency, and 4 activated protein C resistance with heterozygous factor V Leiden mutation (10%). Only 1 case (protein S deficiency) was found in the group of 10 patients with idiopathic CVT. In the other 5, there was another cause or risk factor. Three patients (8%) had increased anticardiolipin antibodies: 1 with systemic lupus and 2 with primary antiphospholipid syndrome; 2 of these 3 patients also had factor V Leiden mutation. CONCLUSIONS: Although present in a number of CVT cases, acquired (anticardiolipin) or congenital varieties of thrombophilia (factor V Leiden being the most frequent) are almost invariably associated with other predisposing factors. This suggests that (1) these abnormalities should be looked for in patients with CVT, whether a cause is found or not, and (2) their presence should not deter the search for other potential causes. The detection of such abnormalities has major practical consequences on the long-term management of patients to prevent further thrombotic episodes.

Case-control study of migraine and risk of ischaemic stroke in young women.

OBJECTIVE: To determine whether migraine is a risk factor for ischaemic stroke in young women. DESIGN: A case-control study. SETTING: Five hospitals in Paris and suburbs. SUBJECTS: 72 women aged under 45 with ischaemic stroke and 173 controls randomly selected from women hospitalised in the same centres. MAIN OUTCOME MEASURES: Ischaemic stroke confirmed by cerebral computerised tomography or magnetic resonance imaging; history of headache recorded with structured interview, and diagnosis of migraine assessed by reproducibility study. RESULTS: Ischaemic stroke was strongly associated with migraine, both migraine without aura (odds ratio 3.0 (95% confidence interval 1.5 to 5.8)) and migraine with aura (odds ratio 6.2 (2.1 to 18.0)). The risk of ischaemic stroke was substantially increased for migrainous women who were using oral contraceptives (odds ratio 13.9) or who were heavy smokers (> or = 20 cigarettes/day) (odds ratio 10.2). CONCLUSIONS: These results indicate an independent association between migraine and the risk of ischaemic stroke in young women. Although the absolute risk of ischaemic stroke in young women with migraine is low, the reduction of known risk factors for stroke, in particular smoking and use of oral contraceptives, should be considered in this group.

[Seven cases of subependymoma. Anatomoclinical study and review of the literature]. / Sept cas de subépendymomes. Etude anatomoclinique et revue de la littérature.

Subependymomas are uncommon, benign, slowly growing lesions usually located in the fourth ventricle. Their morphology is characteristic, but their histogenesis remains controversial. Seven cases observed in our laboratory over a period of 7 years are reported. Most tumors were located axially in the brain stem, and symptoms were more variable than usually reported. The histological appearance was fairly uniform. Immunohistochemistry showed that the fibrillary component was composed of glial fibers. Ependymary differentiation is inconstant on electron microscopy. The pathogenesis of the lesion (tumor, hamartoma or reactive proliferation) is debated in the literature as is the histogenesis.

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.

[Peripheral neuropathy in Waldenstrom's macroglobulinemia. Antibody activity of monoclonal immunoglobulin M directed against vimentin]. / Neuropathie périphérique de la macroglobulinémie de Waldenström. Activité anticorps de l'immunoglobuline M monoclonale dirigée contre la vimentine.

In two patients with Waldenström's macroglobulinaemia complicated with peripheral neuropathy, purified monoclonal immunoglobulin M showed antibody activity specifically directed against vimentin, a major polypeptide of mesenchymal cell cytoskeleton and therefore in Schwann's cell. The neuropathy was of the sensory-motor type. It was improved in one case by plasma exchanges combined with chemotherapy. The relevance of this original antibody activity to the pathogenesis of neuropathy is discussed.

Transient global amnesia and migraine.

Twelve patients with transient global amnesia (TGA) had prior migraines (six classical and six common). In three patients, classic migrainous phenomena accompanied TGA, and in nine patients severe headache accompanied the amnestic attack. Migrainous vascular dysfunction in the dominant posterior cerebral artery territory could explain TGA: (1) The pathophysiology and transient nature of TGA have led many to postulate posterior circulation vascular disease; migraine is a vascular disorder with a posterior circulation bias. (2) TGA and migraine share common precipitants. (3) Migraine differs from arteriosclerotic ischemia; the repetitive queries of TGA are absent in amnestic stroke. (4) TGA and migraine are usually benign.