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P Corcia

Publications and source records attributed to P Corcia.

At least 19 recordsLinked to original sources
PubMed2007

Bilateral hand amyotrophy with PMP-22 gene deletion.

Hereditary neuropathy with liability to pressure palsies (HNPP) phenotypes are heterogeneous. We report the case of a 52-year-old woman without medical history, who complained of bilateral hand weakness suggestive first of a motor neuron disorder. The presence of a diffuse predominant distal demyelinating neuropathy suggested a deletion of PMP-22 gene, which was confirmed by genetic analysis. This case report underlines a novel phenotype related to the deletion of PMP-22 gene.

Female↗
PubMed2006

SMN1 gene, but not SMN2, is a risk factor for sporadic ALS.

BACKGROUND: SMN1 gene deletions cause spinal muscular atrophy, and SMN2 gene deletions have been associated with sporadic lower motor neuron diseases. OBJECTIVES: To study the frequency of abnormal SMN1 gene copy numbers and to determine whether SMN2 gene modulates the risk of amyotrophic lateral sclerosis (ALS) or the duration of evolution. METHOD: The authors studied SMN1 and SMN2 genes in 600 patients with sporadic ALS and 621 controls using a quantitative PCR method. RESULTS: The authors found an association of ALS with an abnormal copy number (one or three copies) of SMN1 gene (p < 0.0001) with an OR of 2.8 (1.8 to 4.4, 95% CI). There was no association with SMN2 copy numbers and no effect of SMN2 copies on the duration of evolution in ALS independently of SMN1 copy number. CONCLUSION: Abnormal SMN1 gene copy numbers are a genetic risk factor in sporadic amyotrophic lateral sclerosis. There was no modulator effect of the SMN2 gene.

Adult↗
PubMed2006

[Thoracic outlet syndrome: an unusual postoperative complication].

UNLABELLED: Introduction. Neurogenic Thoracic Outlet Syndrome (NTOS) is a chronic lower trunk brachial plexus entrapment caused by a cervical rib or a fibrous band. True NTOS is rare and progresses usually slowly. Case report. A 12-year-old girl complained of numbness and weakness of the right upper limb immediately after an orthopedic surgical procedure for scoliosis. Neurological and neurophysiological features were both consistent with a neurogenic thoracic outlet syndrome (NTOS). CONCLUSION: This observation illustrates the risk of NTOS after certain surgical procedures, especially when a prolonged prone position with abducted shoulders is required.

Adult↗
PubMed2006

[Methods of the announcement of amyotrophic lateral sclerosis diagnosis in familial forms].

Between 10 percent and 20 percent of amyotrophic lateral sclerosis cases are familial (FALS). The announcement of a diagnosis of ALS to a patient having relatives already affected with this disease must take into account the familial history and should focus on the improvement in management of ALS patients. Diagnosis of FALS implicitly raises the notion of genetic factors and the possibility for an heritability of the disease (risk of ALS for relatives). Although it is possible to search for mutations in SOD1 gene in ALS patients and asymptomatic relatives, the incomplete penetrance of the disease, the low percentage (10 to 20 percent) of FALS linked to SOD1 mutation and the existence of non causal SOD1 mutations complicate the conclusions of genetic investigations concerning the real risk for a relative with a SOD1 mutation to develop ALS.

Amyotrophic Lateral Sclerosis↗
PubMed2005

[Evaluation of sensory deficit of the inferior alveolar nerve after mandibular osteotomy].

INTRODUCTION: Injury of the inferior alveolar nerve (IAN) is one of the most common complications of mandibular osteotomy. The wide differences in results published to date led us to evaluate the incidence of sensorial disorders persisting for one year in a series of 40 patients. MATERIAL AND METHOD: This study included 40 patients aged 14-58 years. We studied subjective expression of sensorial disorders using a questionnaire with items for the different orofacial functions related to the IAN. We studied the clinical expression of these sensorial disorders by testing the three modes of exteroceptive sensitivity (tact, temperature, pain) in 25 patients. Four clinical tests appropriate for the area of the mental nerve. Somesthesic evoked potentials were recorded in 8 patients. RESULTS: 77% of the patients complained of altered skin sensitivity but a sensorial deficit was revealed by clinical tests in only 60%. Somesthesic evoked potentials were perturbed for 64% of the nerves with a clinical deficit and in 100% without a clinical deficit. DISCUSSION: There was a greater incidence of subjective complaints than objective nerve injury. Recoring somesthesic evoked potentials provides interesting information for the electrophysiological diagnosis of nerve injury. Indications could be widened for traumatic injury of the IAN, particularly to obtain medicolegal documentation.

Adolescent↗
PubMed2005

[Cyclosporin-induced toxic neuromyopathy].

INTRODUCTION: Cyclosporine is an immunosuppressive treatment whose side effects limit its usefulness. Among neurological side effects, neuropathies or myopathies have been reported, specially inpatients given combinations of cyclosporine with co-enzyme A reductase inhibitors. CASE REPORT: We report here the case of a 67-year-old woman who developed few months after a kidney graft sensorimotor disorders which progressed rapidly. Since all etiologies of such a disorder were ruled out, the hypothesis of toxicity exclusively induced by cyclosporine was suggested and confirmed by the improvement observed after its withdrawal. CONCLUSION: This observation highlights the fact that cyclosporine may induce neuromyopathies even when given alone at the therapeutic dosage.

Coenzyme A↗
PubMed2004

Improvement of a CIDP associated with hepatitis C virus infection using antiviral therapy.

A 57-year-old man with chronic inflammatory demyelinating polyneuropathy associated with hepatitis C virus infection was treated successfully with the combination of peginterferon-alpha-2b and ribavirin. Viral eradication was confirmed during the 4th week of treatment and was followed 3 weeks later by neurologic improvement. The patient resumed normal activity 1 year after the therapy was completed.

Antiviral Agents↗
PubMed2004

[Emergency EEG: actual indications and results].

PURPOSE: The indications of emergency electroencephalogram (eEEG) were defined by a French consensus conference in May 1996. We retrospectively confronted the recommendations with the actual requests for emergency EEG in our University hospital, in order to determine the contribution of the eEEG in the most frequent clinical situations encountered. MATERIAL AND METHOD: Three hundred and twenty nine consecutive eEEGs over a 6-months period were retrospectively analyzed. RESULTS AND CONCLUSION: The most frequent indications were presumption of brain death (13%), convulsive status epilepticus after treatment (12.1%), and suspicion of nonconvulsive epilepticus status (10.6%). More than one third of the requests (38.6%) were not in conformity with the recommendations of the consensus conference. The contribution of the EEG is much improved by the application of the consensual criteria. Thus, the EEG remains essential for the management of convulsive status epilepticus after treatment, to seek a subtle epilepticus status or a nonconvulsive epilepticus status. Conversely, the EEG did not prove useful in emergency after a transient loss or alteration of consciousness or a focal, non-febrile, neurological transient or permanent deficit.

Adolescent↗
PubMed2004

[Demyelinating neuropathy and Sjögren's syndrome: a diagnostic pitfall].

INTRODUCTION: Neuropathies induced by Sjögren's syndrome (SS) are usually axonal. Nevertheless some demyelinating neuropathies have been described in patients with SS. To date, the relationship between demyelinating neuropathies and SS remains imprecise. CASE REPORT: A 75 year-old man presented with a chronic history of sensory disturbances linked to demyelinating neuropathy. Electroneuromyography revealed a demyelinating neuropathy and complementary tests revealed both Sjögren's syndrome (SS) and HMSN IA. CONCLUSION: We suggested that an inherited affection might be researched before considering that demyelinating neuropathy might be a form of peripheral nervous system involvement in SS.

Aged↗
PubMed2003

[Acute motor axonal neuropathy, enterovirus and Amyotrophic lateral sclerosis: can there be a link?].

Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disorder of both upper and lower motor neurons. Acute motor axonal neuropathy (AMAN) affects only the lower motor neuron and occurs, in the majority of cases, after an infection. To date, the etiology of ALS remains unknown but seems multifactorial. A 60 year-old man with a past medical history of AMAN developed ALS 9 years later. At that time, genomic sequences of enterovirus (echovirus 6 and 7) were detected in cerebrospinal fluid by RT-PCR. This particular succession led to discuss a possible link between theses two disorders and consequently the involvement of enterovirus in the development of ALS.

Amyotrophic Lateral Sclerosis↗
PubMed2002

SMN1 gene study in three families in which ALS and spinal muscular atrophy co-exist.

Spinal muscular atrophy (SMA) is caused by SMN1 gene deletions or mutations, and ALS is the most frequent motor neuron condition in adults. The authors describe three families in which ALS and SMA coexist. The authors found that no SOD1 mutation was found within these families; all three ALS cases had at least two SMN1 copies; and an abnormal SMN1 gene locus did not explain the co-occurrence of these two motor neuron disorders in these families.

Amyotrophic Lateral Sclerosis↗
PubMed2001

Sleep and brain lesions: a critical review of the literature and additional new cases.

We present a comprehensive review of sleep studies performed in patients with brain lesions complemented by 16 additional personal selected cases and by discussion of the corresponding animal data. The reader is cautioned about the risk of establishing an erroneous correlation between abnormal sleep and a given disorder due to the important inter and intra variability of sleep parameters among individuals. Salient points are stressed: the high frequency of post-stroke sleep breathing disorders is becoming increasingly recognised and may, in the near future, change the way this condition is managed. Meso-diencephalic bilateral infarcts induce a variable degree of damage to both waking and non-REM sleep networks producing and abnormal waking and sometimes a stage 1 hypersomnia reduced by modafinil or bromocriptine, which can be considered as a syndrome of cathecholaminergic deficiency. Central pontine lesions induce REM and non-REM sleep insomnia with bilateral lateral gaze paralysis. Bulbar stroke leads to frequent sleep breathing disorders. Polysomnography can help define the extent of involvement of various degenerative diseases. Fragmented sleep in Parkinson's disease may be preceded by REM sleep behavioural disorders. Multiple system atrophies are characterised by important sleep disorganization. Sleep waking disorganization and a specific ocular REM pattern are often seen in supra-nuclear ophtalmoplegia. In Alzheimer patients, sleep perturbations parallel the mental deterioration and are possibly related to cholinergic deficiency. Fronto-temporal dementia may be associated with an important decrease in REM sleep. Few narcoleptic syndromes are reported to be associated with a tumour of the third ventricle or a multiple sclerosis or to follow a brain trauma; all these cases raise the question whether this is a simple coincidence, a revelation of a latent narcolepsy or, as in non-DR16/DQ5 patients, a genuine symptomatic narcolepsy. Trypanosomiasis and the abnormal prion protein precociously after sleep patterns. Polysomnography is a precious tool for evaluating brain function provided it is realised under optimal conditions in stable patients and interpreted with caution. Several unpublished cases are presented: one case of pseudohypersomnia due to a bilateral thalamic infarct and corrected by modafinil, four probable late-onset autosomal recessive cerebellar ataxias without sleep pattern anomalies, six cases of fronto-temporal dementia with strong reduction in total sleep time and REMS percentage on the first polysomnographic night, one case of periodic hypersomnia associated with a Rathke's cleft cyst and four cases of suspected symptomatic narcolepsy with a DR16-DQ5 haplotype, three of which were post-traumatic without MRI anomalies, and one associated with multiple sclerosis exhibiting pontine hyper signals on MRI.

Animals↗
PubMed2000

[Amyotrophic lateral sclerosis manifesting as cognitive disorders. Value of brain perfusion scintigraphic tomography in intensive care].

BACKGROUND: Cognitive disorders have been described in amyotrophic lateral sclerosis, but usually after the diagnosis has ben established. CASE REPORT: A 57-year-old man was intubated for acute respiratory distress subsequent to pneumonia and diaphragm palsy. He had a 2-year history of drug-resistant depression and deterioration of cognitive functions. A pyramidal syndrome associated with biopsy-proven chronic neurogenic atrophy led to the diagnosis of amyotrophic lateral sclerosis. The electromyogram did not contribute to diagnosis. Brain MRI only evidenced moderate bilateral frontal-temporal atrophy. Brain SPECT demonstrated major perfusion defects in the frontal lobes. DISCUSSION: This patient had amyotrophic lateral sclerosis and frontal-temporal dementia with an unusually late onset clinical presentation: cognitive disorder was the inaugural sign. Brain SPECT and muscle biopsy enabled us to identify the cortical and peripheral motor neurone involvement in this uncooperative intensive care patient totally dependent on mechanical ventilation.

Biopsy↗
PubMed2000

[Primary lateral sclerosis with breast cancer, a potential paraneoplastic neurological syndrome].

Few reports indicate that motor neuron diseases may have paraneoplastic origin. A 70 year-old woman suffering from progressive upper motor neuron disease is presented. Laboratory, radiological and neurophysiologic studies were compatible with primary lateral sclerosis. Six years later a routine screening led to the discovery of a breast cancer, suggesting that the upper motor neuron syndrome could be paraneoplastic. So, in female patients with primary lateral sclerosis, a mammography should be recommended to search for breast cancer.

Aged↗
PubMed1999

[Determination of language dominance using EEG spectral analysis versus the Wada test in temporal epilepsy (right-handed subjects)].

Spectral analysis of the EEG alpha rhythm was studied in nine temporal epileptic right-handed patients in order to predict localization of the speech area. We studied the variation of the spectral power of the alpha rhythm during an activation paradigm previously validated in normal right-handed subjects. Significant alpha power decreases in the left hemisphere during writing with the right hand (as compared to resting) and/or significant alpha power decreases in the right hemisphere during left-hand recognition and classification of cardboard objects (as compared to resting) were considered as consistent with left-hemisphere dominance for language. The results of EEG spectral analysis were compared with those of the Wada test. The left hemisphere was dominant for language according to the Wada test in eight subjects and the right hemisphere in one subject. Six patients had a significant alpha power reduction in the hemisphere concerned during lateralized cognitive tasks, consistent with language localization in the left hemisphere according to the Wada test. The three remaining patients had no significant EEG spectral power variations. A significant decrease of alpha power in the active hemisphere during cerebral activation seems statistically related to left-hemispheric dominance for language in right-handed subjects (hemispheric specialization). However, the localization of the speech area using this electrophysiological method does not appear clinically relevant for a case-by-case decision in individual patients.

Adolescent↗
PubMed1999

Sleep and epilepsy.

This review considers the effect of sleep on seizures and interictal electroencephalogram (EEG) paroxysmal activities (PAs), as classified by the International League Against Epilepsy criteria. No type of seizure is, per se, specifically linked with non-rapid eye movement (NREM) or rapid eye movement (REM) sleep. However, in some syndromes, seizures are more frequent in slow wave sleep (SWS) [partial motor or generalized seizure in benign epilepsy with centro-temporal spikes (BECTS), frontal seizures in idiopathic familial or not familial frontal lobe epilepsy and generalized tonic seizure in secondary generalized epilepsy are increased by SWS]. Conversely myoclonia and grand mal seizures are associated with awakening in some forms of generalized idiopathic epilepsy. There is a mean increase in PAs during SWS in generalized and in partial epilepsies on the whole. However, precise analysis shows that in partial cryptogenic or symptomatic epilepsy and, most likely, in the majority of generalized idiopathic epileptic syndromes about 20% of patients have an increase in PA density during SWS, 20% experience an increase in waking, 50% have very few PAs and in 10% there is no significant difference between sleep and waking. BECTS, however, exhibits a definite increase in sleep PA increase and in juvenile myoclonic epilepsy an increase in PAs during the intra-night awakening is reported. There are at least three syndromes, which cause a huge increase in PAs during sleep: the Landau-Kleffner syndrome and the syndromes of continuous focal or generalized spike-waves during SWS. Their physiopathology and neuropsychological consequences are discussed. Neurophysiological animal data are also reported highlighting the relationships between slow sleep oscillations and the generation of spike waves. A biochemical review is also presented.

Journal Article↗