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W Camu

Publications and source records attributed to W Camu.

At least 19 recordsLinked to original sources
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

[What is the role of the genetic survey in amyotrophic lateral sclerosis?].

The genetic inquiry in the diagnostic process of amyotrophic lateral sclerosis (ALS) need to be precise and systematic. Several hereditary neurologic disorders may initially mimic ALS, such as dominant spino-cerebellar ataxia or spastic paraplegia. Other hereditary motor neuron disorders are clinically more difficult to distinct from ALS such as Kennedy's disease, adult-onset spinal muscular atrophies or juvenile ALS. When a final diagnostic of ALS is established, the genetic inquiry aims at identifying a familial ALS (FALS) case. Almost 10 to 20 percent of ALS cases are familial. It is now admitted that 10 to 20 percent of those cases are due to SOD1 gene mutations. Such mutations may have a dominant or recessive inheritance. They are mainly found in multigenerational families. In 80 percent of the FALS cases, only two ALS cases are found in the pedigree. One cannot know whether this represent dominant cases with low penetrance, recessive inheritance or a multigenic, hereditary complex, disorder. More other, not all the SOD1 mutations have been demonstrated as causal. These elements are strong enough to suggest to precisely study, in the presence of a given SOD1 mutation, both the clinical phenotype, the data from the literature and, as often as possible, the segregation of the mutation into the family, before ascertaining that the mutation is responsible for a hereditary case of ALS. In every case, the genetic inquiry together with its conclusions should be done with caution, taking into account both the patient's need of a clear information and his anxiety regarding his descent.

Amyotrophic Lateral Sclerosis↗
PubMed2006

[Psychological treatment for the patient and caregivers during the course of amyotrophic lateral sclerosis].

Amyotrophic lateral sclerosis is a devastating disorder for which the psychological consequences of both the diagnosis announcement and the evolution of paralysis not only concern the patient but also his family. The role of the psychologist is to develop an individualized follow up considering the patient in his globality. The first consultation is, ideally, initiated after a medical consultation explaining the importance of the psychological area in ALS patient care. The psychological follow up will consist in an empathic listening of history and problems. Information will also be given to the patient by the psychologist who's role should not be only passive. When talking about "globality" of the psychological intervention for a given patient, his family takes a determinant place. The psychologist should be able to establish a contact with the family members concerned by the daily support to the patient. The psychological processes through which a patient will evolve should be explained to the family. Depression frequently affects family members, and a specific follow up in those cases has to be undertaken as soon as possible. Such a depressive reaction may also take place after death and a psychological follow up do not end after the death of a patient. The role of a psychologist in ALS care ideally takes places in the context of a multidisciplinary team such as a motoneuron clinic now largely available in our country. The burden of care is frequently heavy both for the family and the team of professional carers into and outside the hospital. The psychologist has a role of mediation between those persons, facilitating verbal exchanges, paying attention to specific difficulties and maintaining a fruitful exchange between the carers, the patient and his family. More prospectively, the psychologist also has a pedagogic role for the carers explaining psychological processes and giving clues for a constructive relationship between the patient and his family and also between this patient and his carers.

Amyotrophic Lateral Sclerosis↗
PubMed2005

[Leflunomide-related severe axonal neuropathy].

INTRODUCTION: Leflunomide is a new drug for the treatment of rheumatoid arthritis. Its mechanism of action is based on lymphocyte inhibition. We report the cases of two patients treated with leflunomide who developed severe sensory-motor axonal polyneuropathy. OBSERVATION: Two women (61- and 70-year-old) presented with a sensory-motor axonal polyneuropathy beginning 5 months after onset of leflunomide treatment. Etiologic investigations were negative. The symptoms rapidly improved after withdrawing leflunomide. DISCUSSION: The analysis of drug watch data found twelve patients with leflunomide-related neuropathy. Ten of them were more than 60 years old. The mean delay for onset of neuropathy was 9 months. The neuropathy improved after treatment withdrawal in seven patients. CONCLUSION: We consider these data strongly suggest that leflunomide is a cause of axonal sensory-motor neuropathy. The prevalence of such adverse events is still unknown.

Aged↗
PubMed2004

[Superoxyde dismutase 1 gene abnormalities in familial amyotrophic lateral sclerosis: phenotype/genotype correlations. The French experience and review of the literature].

About 20 p. cent of cases of amyotrophic lateral sclerosis are familial (FALS). Fifteen percent of FALS cases are associated with an abnormality in the superoxide dismutase 1 (SOD1) gene. To date, more than 100 different genetic abnormalities have been reported, all except two are autosomal dominant. The clinical characteristics of patients presenting with FALS associated with an SOD1 abnormality is homogeneous when there is no doubt about the hereditary aspect of the genetic abnormality: mean age at onset 42 years, limb onset, slow evolution. Except when present in the setting of a clearly inherited disease (FALS) (several patients through several generations), the causality of a given SOD1 mutation often remains an open question. Consequently, search for SOD1 mutation is not warranted when atypical features such as young age at onset or slow progression are present. Conversely, a complete family study is justified to determine the precise role of a given SOD1 mutation because of the large number of potential SOD1 mutations, the variability of the transmission mode, and the non-exceptional absence of proven causality for ALS. Specific cases where a frequent SOD1 mutation with a recognized causal effect is recognized (no more than 15 out of more than 90 mutations) would be an exception.

Family↗
PubMed2004

[Spinal muscular atrophies in the adult].

Spinal muscular atrophies are heterogeneous group. The diagnostic process should be careful to uncover the main differential diagnoses and to identify familial cases. Clinical phenotype is highly variable. In familial ALS cases with SOD1 mutation, the clinical scene may mimic spinal muscular atrophy. A careful questionning and a complete electroneuromyographic exam are warranted to allow the neurologist to choose among more invasive investigations for differential and positive diagnosis such as MRI, nerve or muscle biopsy, genetic analysis.

Adult↗
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

Compound heterozygous D90A and D96N SOD1 mutations in a recessive amyotrophic lateral sclerosis family.

We describe a French amyotrophic lateral sclerosis (ALS) family with two distinct mutations in the Cu/Zn superoxide dismutase (SOD1) gene. The D90A mutation has been well described and clearly shown to cause recessive ALS. In this family, affected individuals are heterozygous for the D90A mutation and also carry a single copy of a novel SOD1 mutation, D96N. We propose that in this family both mutations are required for the development of disease.

Adult↗
PubMed2001

[Acute motor axonal neuropathy and aseptic meningitis due to Staphylococcus aureus endocarditis].

INTRODUCTION: Central nervous system complications are commonly described in Staphylococcus aureus endocarditis but peripheral nervous system involvement is rare. EXEGESIS: We report the case of a 65-year-old woman who had tetraparesia and aseptic meningitis revealing S. aureus endocarditis. The presence of purpura on the lower limbs led to an initial diagnosis of meningococcal meningitis. Tetraparesia was due to an acute motor axonal neuropathy. Anti-GM1 antibodies were negative. Meningitis and tetraparesia improved with antibiotic therapy. CONCLUSION: Acute motor axonal neuropathy may be a presenting symptom of S. aureus endocarditis.

Acute Disease↗
PubMed2001

Cognitive impairment in motor neuron disease with bulbar onset.

METHODS: Twenty-three patients with bulbar onset motor neuron disease/amyotrophic lateral sclerosis (MND/ALS) were clinically assessed. They subsequently underwent serial neuropsychological testing, event-related potentials (ERP) and SPECT studies. Cognitive impairment was defined by clinical evidence of dementia (DSM-IV and frontal evaluation) or by significant alteration indicated by neuropsychological testing (excluding patients with depression and major anxiety), or both. RESULTS: Eleven patients (48%) were found to be cognitively impaired. Abnormalities indicated fronto-temporal involvement, with memory impairment, alteration of judgement and reasoning, reduced speech, behavioural dyscontrol and alteration of daily living activities. This impairment correlated well with event-related potentials and SPECT studies. Event-related potentials were the most sensitive test as 100% of the impaired patients had abnormal ERP (p = 0.04). The cognitively impaired group differed from the other group mainly by gender ratio (male/female) with an important male predominance: 1.75 vs. 0.33. MND/ALS was also more severe when cognitive decline was present. CONCLUSION: This study adds further arguments for a cognitive impairment in MND/ALS. This also reinforces the hypothesis that there is continuum between MND/ALS and fronto-temporal lobe dementia.

Activities of Daily Living↗
PubMed2001

Motor neuron disease after electric injury.

The occurrence of motor neuron disease after electrical injury in six patients is reported and compared with patients from the literature. The patients were five men with spinal onset and one woman with bulbar motor neuron disease after electric shock. Two patients were struck by lightning and four by industrial electric shock. For all six of them, the disease started at the site of the electrical trauma. The mean delay for onset of motor neuron disease was 44 months. In four of the spinal patients the disease progressed slowly with mild handicap after several years. For the fifth patient, improvement was noted progressively. The patient with bulbar disease died 26 months after onset. A link between electric shock and motor neuron disease is likely, given the homogenous profile of the patients both in the five spinal cases presented here and in the literature. Bulbar onset has not been reported to date. However, in this patient the long delay between the electrical injury and motor neuron disease, together with the rapid evolution may suggest a chance association.

Adult↗
PubMed2001

[Respiratory disorders during sleep in amyotrophic lateral sclerosis].

Amyotropic lateral sclerosis is a severe degenerative disease of the nervous system. Progressive death of central and peripheral motor neurons leads to rapidly extensive paralysis of the four limbs, the bulbar region and the respiratory system. Sleep respiratory disorders is a useful sign to follow in these patients. Apnea is generally central rather than obstructive. Hypoventilation, particularly during REM sleep has been reported and causes nocturnal desaturation. These patients also appear to have a disrupted sleep pattern with a longer phase I and a shorter total duration of sleep. These nocturnal respiratory disorders observed in amyotropic lateral sclerosis are similar to those observed in muscle diseases. Management must however be undertaken very early in these patients because outcome can be rapidly fatal after the development of significant desaturation. Nasal ventilation can improve not only quality of life but also life expectancy for these patients.

Humans↗
PubMed2000

Bullous pemphigoid and amyotrophic lateral sclerosis: a new clue for understanding the bullous disease?

BACKGROUND: Bullous pemphigoid (BP) occurs in many patients with multiple sclerosis. Isolated cases of BP in patients with other neurological disorders further support a pathogenic association between cutaneous and neurological diseases. Any description of BP in patients with amyotrophic lateral sclerosis is lacking. OBSERVATIONS: We studied a French population of 168 patients with typical amyotrophic lateral sclerosis. Among these, 3 had clinical and histological features of BP. The mean age of the patients was 54 years. None was known to have autoimmune disorders. Results of immunoblot analysis disclosed both anti-BP antigen 1 and anti-BP antigen 2 antibodies. CONCLUSIONS: Bullous pemphigoid seems to be unexpectedly associated with amyotrophic lateral sclerosis. On the basis of the cases presented herein, we discuss the epidemiological significance of the association and the possible interrelation between BP antigen 1 and neurofilaments in the pathogenesis of both disorders.

Aged↗
PubMed2000

Coexistence of dominant and recessive familial amyotrophic lateral sclerosis with the D90A Cu,Zn superoxide dismutase mutation within the same country.

The Cu,Zn superoxide dismutase (Cu,Zn SOD) mutations described in amyotrophic lateral sclerosis (ALS) have, for the most part, a dominant influence. However, while a few cases with a heterozygous D90A mutation have been described in different countries, D90A has been recently proven to be recessively inherited with a common founder effect in Scandinavia. We screened French ALS families for Cu,Zn SOD mutations. The presence of the D90A allele was found in two index-cases, and their families were subsequently studied. In the first family the ALS patients were homozygotes for D90A, while in the second, all ALS patients were heterozygotes. In both families the disease was found to initially involve the lower limbs with slower progression than in sporadic cases, and frequent atypical signs such as paresthesia and urgency of micturition. We determined the D90A allele frequency in controls (n = 200) and sporadic ALS patients (n = 408). No D90A allele was found. This is the first report of coexistence of dominant and recessive families with the D90A Cu,Zn SOD mutation within the same country.

Adult↗