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J Pouget

Publications and source records attributed to J Pouget.

At least 55 records · Page 3Linked to original sources
PubMed2001

[Proximal myotonial myopathy (PROMM): clinical and histology study].

We report 13 French patients with proximal myotonic myopathy. PROMM is a recently delineated multisystem disorder with dystrophic myopathy, myotonia and cataracts. This syndrome is genetically distinct from myotonic dystrophy (DM) by the absence of abnormal CTG repeat expansion. The geographical origin varies but 4 families originated from Poland. Of late onset, muscle weakness is diffuse and predominantly affected proximal and axial muscles. Facial involvement and myotonia were moderate or absent, but in all cases myotonic discharges were detected on EMG. 6 patients suffered from myalgia. Cataracts occurred in 11 patients, mainly indistinguishable from those in DM. Cardiac arrythmia occurred in 7 patients. Muscle biopsy revealed rare structural changes of the muscle fibers and selective type I atrophy, common in DM, could not be found on morphometric analysis. PROMM has a distinct clinical spectrum from DM which includes a predominantly proximal muscle weakness, with troubling pain, a more favourable prognosis and a different histopathological pattern.

Adult↗
PubMed2001

[Postural and locomotor evaluation of normal pressure hydrocephalus: a case report].

Generally, the diagnosis of idiopathic normal pressure hydrocephalus (NPH) is raised in elderly patients with an association of gait disturbances, cognitive impairment, urinary incontinence and widening of the ventricles. Gait disturbances appear as the predominant clinical symptom of NPH, and may precede other symptoms. The main objectives of this study were to determine the effect of ventriculoperitoneal shunt (VPS) on gait and to compare the results obtained in HPN with those obtained in Parkinson's disease (PD). The performance of a patient with NPH on specific postural and locomotion tasks was analyzed during three successive experimental sessions: the first one before VPS, the second one week after VPS and the third three months after VPS. The patient was instructed to walk at his natural speed and also to maintain postural control for one minute. Four gait parameters (mean velocity, stride length, cadency and step width) were calculated for each session to assess the subject's performance. In this NPH patient there was a significant improvement in gait performance before and after VPS. This improvement concerned mean velocity, stride length and step cadency but did not involve the width component which remained unchanged. Before VPS, the NPH patient walked slower and with a shorter stride length than a group of patients with PD. After VPS his performance was better than the PD group except for cadency. Step width remained longer for the HPH patient than in PD patients for all three sessions. From this study, it appears that gait in idiopathic NPH exhibits a specific temporospatial pattern distinct from that in PD or normal age-matched controls. Changes in gait can be evaluated shortly after treatment of NPH. Gait disorders, excepting dynamic balance, may normalize as soon as one week after surgery.

Aged↗
PubMed2000

[Gamstorp's disease in a Marseilles family].

BACKGROUND: Primary periodic palsy is a group of muscular diseases transmitted by autosomal dominant inheritance. The characteristic features are flaccid muscular deficiency, abolition of reflexes, and dyskalemia. CASE REPORT: A 36-year-old woman presented a 5-year history of acute episodes of myalgia, muscle contracture, and muscle paralysis involving first the hand, then all four limbs and the face, sparing the respiratory muscles. The symptoms totally regressed spontaneously within one hour or in a shorter time if the patient ingested sugar. Demonstration of hyperkalemia during an acute episode led to the diagnosis of transfer hyperkalemia typical of Gamstorp's disease. Several members of the family presented identical symptoms. DISCUSSION: Despite progress in our understanding of this disease, diagnosis is often made late. The diagnostic strategy is however quite simple: serum potassium during an acute episode and provocation test with fasting and rest.

Adult↗
PubMed2000

[An unrecognized cause of camptocormia: proximal myotonic myopathy].

BACKGROUND: The underlying cause of camptocormia, a common condition in adults consisting of forward flexion of the trunk both in stance and gait, is often unrecognized, attributed by some to primary late-onset myopathy. CASE REPORTS: Two patients progressively developed camptocormia. The cause was identified as a relatively new disease, proximal myotonic myopathy. DISCUSSION: The diagnosis of proximal myotonic myopathy is based on clinical findings: myalgia and diffuse pain, gait disorders and progressive weakness of proximal muscles, electrical myotonia, cataracte in some cases, elevated gamma glutamyltranspeptidases. The disease is transmitted by autosomal dominant inheritance. This condition should be entertained as a possible cause in patients presenting an apparently primary camptocormic syndrome.

Aged↗
PubMed2000

[Vascular neuropathies].

Vasculitic neuropathy is an important cause of peripheral neuropathy because of its potentially severe prognosis and an early recommended therapy. Diagnosis is easy when the clinical presentation is an acute, painful, multiple mononeuropathy but more difficult when presenting as a polyneuropathy. Electrophysiologic studies play an important role in the diagnosis. Muscle and nerve biopsies confirm the vasculitic process and demonstrate ischemic neuropathy lesions. Polyarteritis nodosa, rheumatoid arthritis and non-systematic vasculitic neuropathy are the main conditions of vasculitic neuropathy. Usual treatment includes a combination of corticosteroids and cyclophosphamide.

Adrenal Cortex Hormones↗
PubMed2000

Humoral immunity against glutamic acid decarboxylase and tyrosine phosphatase IA-2 in Lambert-Eaton myasthenic syndrome.

Some beta-cell-specific autoantigens also are present in the central nervous system. Furthermore, stiff man syndrome, an autoimmune neurological disease, is frequently associated with diabetes and shares with this one an anti-GAD and IA-2 humoral immunoreactivity. We wondered whether these autoantibodies could be found in other neurological diseases with a present or supposed autoimmune origin. So, anti-GAD65 (GAD65A) and anti-IA-2 (IA-2A) autoantibodies were assayed in various neurological diseases. There was a higher prevalence of such antibodies in Lambert-Eaton myasthenic syndrome (LEMS) (GAD65A, 35%; IA-2A, 21%; double positivity, 18%) compared to amyotrophic lateral sclerosis (18%, 12%, and 12%, respectively) and multiple sclerosis (10%, 3%, and 3%, respectively). In LEMS, the humoral reaction was more frequent and/or appeared earlier in the paraneoplastic forms. The detection of such autoantibodies in patients with small-cell lung carcinoma (SCLC) without LEMS suggests that these autoantigens, GAD65 and IA-2, could be produced by SCLC tissue.

Adolescent↗
PubMed2000

Importance of searching for associated mitochondrial DNA alterations in patients with multiple deletions.

Multiple mitochondrial DNA (mtDNA) deletions have been reported in patients with autosomal dominant and recessive disorders. We studied several affected and one non-affected individuals belonging to a pedigree in which the inheritance of the pathological trait was compatible with an autosomique dominant transmission. Affected members had late-onset multisystem disorders with multiple mtDNA deletions in skeletal muscle. But this family presented a striking difference from previously described cases, because none of the patients had progressive external ophthalmoplegia (PEO). We also studied one young boy with a no contributary family history. He had a cerebellar ataxia with PEO and multiple mtDNA deletions in muscle. Molecular analysis revealed that in the first family, repeated sequences were present at the breakpoint junctions, whereas such motifs were not found in the young patient's case. In the first family, we evidenced mtDNA point mutations in clones containing breakpoint junctions and a 9-bp motif triplication in the intergenic COII/tRNA(Lys) region, whereas this sequence is repeated twice in the wild type mtDNA. Our results suggest that multiple deletions observed in the two pedigrees result from different molecular mechanisms and point out the role of repeated sequences in the first pedigree. No mtDNA repair system has been described in mammals so far, but the molecular abnormalities found in the first family suggest that a defect in an mtDNA repair system, homologous to the E. coli MutHLS pathway, could be responsible for such a phenotype.

Child↗
PubMed2000

Transcranial magnetic stimulation (TMS): compared sensitivity of different motor response parameters in ALS.

Owing to the low sensitivity of clinical signs in assessing upper motor neuron (UMN) involvement in ALS, there is a need for investigative tools capable of detecting abnormal function of the pyramidal tract. Transcranial magnetic stimulation (TMS) may contribute to the diagnosis by reflecting a UMN dysfunction that is not clinically detectable. Several parameters for the motor responses to TMS can be evaluated with different levels of significance in healthy subjects compared with ALS patients. The central motor conduction time, however, is not sensitive in detecting subclinical UMN defects in individual ALS patients. The amplitude of the motor evoked potential (MEP), expressed as the percentage of the maximum wave, also has a low sensitivity. In some cases, the corticomotor threshold is decreased early in the disease course as a result of corticomotor neuron hyperexcitability induced by glutamate. Later, the threshold increases, indicating a loss of UMN. In our experience, a decreased silent period duration appears to be the most sensitive parameter when using motor TMS in ALS. TMS is also a sensitive technique for investigating the corticobulbar tract, which is difficult to study by other methods. TMS is a widely available, painless and safe technique with a good sensitivity that can visualize both corticospinal and corticobulbar tract abnormalities. The sensitivity can be improved further by taking into account the several MEP parameters, including latency and cortical silent period decreased duration.

Amyotrophic Lateral Sclerosis↗
PubMed2000

[Lower motor neuron disease and signs of dysimmunity].

Twenty-two patients (12 men, 10 women, age range 16 to 60) affected with an adult-onset, sporadic, lower motor neuron disease were studied. Motor weakness was associated with a severe muscular atrophy but never in a peripheral nerve distribution. Weakness predominated in the proximal parts of the limbs in 3 cases, in distal parts in 10 cases involving predominantly the upper limbs in 10. It was diffuse in all four limbs in six cases and was monomelic in the last 2 two others. Reflexes were generally lost in weak muscles. Electrodiagnostic findings consisted of pure motor axonal features, subtle sensory involvement was present in 3 cases with an IgM monoclonal gammopathy, in only one case the neurological syndrome was associated with a lymphoproliferative disorder despite complete investigations. All patients had dysimmune biological features (MGUS or anti-GM1 antibodies). We studied SMN gene in 12 patients and found no deletion. 16 patients were treated with IVIg and five improved but in 2 cases the improvement was transcient and lasted less than six months. Intravenous cyclophosphamide (1g/m(2) repeated monthly during 6 to 9 months) was used in six patients and three improved. Among these three patients two received also plasma exchanges on two days before the infusion. In all three patients, muscle weakness gradually deteriorated in the months following the end of the treatment. Nor the weakness pattern nor the type of biological marker was predictive of a good response to treatment. Lower motor neuron diseases appear to be much less sensitive to treatment than multifocal motor neuropathy with conduction block. However, treatment with IVIg or cyclophosphamide must be considered in the most severe forms or in case of a young onset.

Adolescent↗
PubMed2000

[Sensitized immunofixation: a new technique for analyzing the oligoclonal pattern of CSF immunoglobulins].

Intrathecal immunoglobulin synthesis is observed in more than 90% of all cases of multiple sclerosis, producing a specific CSF IgG oligoclonal electrophoretic pattern. The consensual method used as reference is isoelectric focusing (IEF). We developed a new CSF Ig analysis method by immunofixation (IF). The method includes an immunoenzymatic detection step performed directly on the gel allowing the use of unconcentrated CSF and avoiding the blotting step. The reliability of this method was established by the analysis of 210 CSF/serum pairs including defined, probable and possible MS, other inflammatory CNS diseases and controls (noninflammatory CNS diseases and peripheral nervous system diseases). Intrathecal IgG synthesis was detected in 95.5% of defined MS cases. The specificity for CNS inflammatory diseases including MS diagnosis, evaluated by comparison with controls, was 98.8%. This new method is quicker and visual interpretation is easier than with IEF. It is a semi-automated method that should be considered for standardization of CSF IgG analysis.

Adult↗
PubMed1999

Strategies of segmental stabilization during gait in Parkinson's disease.

This study compared the postural strategies adopted by patients with Parkinson's disease (PD; n = 16) during locomotion to those of elderly controls (n = 16). We focused mainly on the head and trunk stabilization modes in sagittal and frontal planes. Subjects were asked to walk at their natural speed on an uniformly gray, flat ground. Gait data were recorded before and 1 h after L-dopa intake and were analyzed by an automatic motion analyser (Elite system). The modes of segmental stabilization adopted by each group were determined by means of the anchoring index, associated with cross-correlation functions between angular movements of pairs of segments. The major findings were: (a) PD patients generally had shorter step length, greater step width, and slower gait velocity than the healthy elderly. (b) No difference in angular dispersion of any anatomical segment studied was observed between the two groups. (c) PD patients had adopted a strategy of head stabilization on the shoulder ("en bloc" functioning of the head-shoulder unit) about the roll axis only. (d) PD patients displayed head and shoulder angular movements around the roll axis that were more correlated than those of controls, confirming their more en bloc functioning. (e) Shoulder and hip were equally stabilized in space in the two groups around the roll axis. (f) There was no difference between the two groups about the pitch axis where an en bloc functioning of the whole trunk was shown. These results are discussed with respect to the similarities observed between the visuo-locomotor PD performances and those of children.

Acceleration↗
PubMed1999

MRI of the intracranial corticospinal tracts in amyotrophic and primary lateral sclerosis.

Our aim was to investigate the corticospinal tracts (CST) in motor neurone disease, using MRI, and to correlate findings with clinical data. We studied 31 patients with amyotrophic (ALS) and eight with primary lateral sclerosis (PLS). The signal from the CST was classified into four grades on T2-weighted images, and compared to T2-weighted images of 37 age-matched control subjects. No abnormalities were seen in the CST on T1-weighted images and were rarely evident on proton-density weighting. Variable high signal in the CST was found on T2-weighted images in 35 patients, and in 29 control subjects. Our grades 0 and 1 were more frequent in control subjects, grades 2 and 3 more frequent in patients. We found no correlation between the high signal and clinical data, including the duration of the illness. We therefore conclude that this technique is neither sensitive nor specific except in grade 3 which is quite specific for ALS. In half the patients we found atrophy of the superior parietal gyrus, which merits further study.

Adult↗
PubMed1999

Adult onset reducing body myopathy.

We report the case of a 28 year-old woman with left scapuloperoneal syndrome since the age of 24. The course was slowly progressive and diffuse weakness was observed 4 years later. Serum creatine kinase levels were moderately elevated (x3 normal value) and EMG showed mixed neurogenic and myogenic patterns. Muscle biopsy showed type I predominance and numerous reducing bodies in muscle fibers. Reducing bodies were strongly immunoreactive with antibodies to dystrophin, alpha-sarcoglycan, vimentin and ubiquitin. Desmin immunoreactivity was increased at the periphery of some reducing bodies but alphaB crystallin, alpha actinin, titin and nebulin were negative. Western blot analysis showed an increase in dystrophin, vimentin and desmin expression. Ultrastructurally, reducing bodies were composed of tubulofilamentous material, 17 nm in diameter, and immunoreactive with anti-Dys 2 antibody. Granulofilamentous material, immunoreactive with anti-desmin antibody was observed at the periphery of some reducing bodies. This report further highlights the proteinic composition of reducing bodies and shows that late onset reducing body myopathy may occur.

Adult↗
PubMed1999

Electromechanical coupling and synchronous firing of single wrist extensor motor units in sporadic amyotrophic lateral sclerosis.

Electrical and contractile properties of motor units (MU) were studied in the extensor carpi radialis muscles during voluntary contraction. The discharge of 234 single MUs was recorded in 11 patients with sporadic amyotrophic lateral sclerosis (ALS) and compared with that of the 260 MUs recorded in 12 healthy control subjects. Characteristics of the MU twitches and of the macro-potentials, the electromechanical coupling and the synchronization of the motor neurone discharges, were compared. In 5 patients (population ALS1), the twitch contraction force and macro-MUP area values were much larger than those of the controls. In the 6 other patients (population ALS2), the twitch force was considerably depressed, whereas the macro-MUP area was slightly, but significantly, increased. In ALS1, as well as in ALS2, the electromechanical coupling was much weaker than in the controls, and the fast-contracting MUs were more severely affected than the slowly contracting MUs. The motoneuronal synchronization was assessed by performing cross-correlation analysis on MUs discharges, and was used as an index to the strength of the common motoneuronal inputs. The rate of occurrence of synchronous firing was conspicuously lower in both populations of patients than in the control group. This might reflect the loss of corticospinal projections that occurs in ALS. The data are discussed in terms of the time course of motor neurone axonal sprouting, and in terms of the neuronal and muscular dysfunction possibly involved in ALS disease.

Aged↗
PubMed1999

Quantitative voice analysis in the assessment of bulbar involvement in amyotrophic lateral sclerosis.

Bulbar and pseudobulbar symptoms are diagnostic criteria of amyotrophic lateral sclerosis (ALS). One of the earliest symptoms of bulbar involvement is voice deterioration. Until now voice assessment in ALS patients has been done mainly by perceptual analysis. The objective parameters, including acoustic measures, one aerodynamic measure and the maximal phonation time, have been measured only in a few small series of patients. The first purpose of this prospective study was to determine which vocal parameters discriminate ALS patients with bulbar involvement from control patients. The second was to identify sensitive parameters for early detection of voice deterioration due to bulbar involvement in pre-symptomatic ALS patients. The voices of 63 female ALS patients, including 40 with bulbar symptoms (sALS patients) and 23 without bulbar symptoms (aALS patients), were studied using an objective voice analysis system that allows simultaneous analysis of acoustic and aerodynamic parameters. Measurements were compared with those obtained in 40 normal female subjects (control patients). Five of eight acoustic parameters were significantly different among the three groups: jitter, coefficient of variation for frequency, shimmer, number of harmonics, and maximum phonatory frequency range. Three aerodynamic parameters, phonatory airflow, cycle-to-cycle variation for phonatory airflow, and coefficient of variation for phonatory airflow were significantly different between sALS patients and control patients. No aerodynamic parameter allowed discrimination between aALS patients and control patients. This study shows that acoustic parameters are more sensitive than aerodynamic parameters for early detection of bulbar involvement. Nevertheless, the measurements used can predict bulbar involvement in 73% of those in the sALS group, but only in 52% of those in the aALS group.

Aged↗
PubMed1999

Visual control of locomotion in Parkinson's disease.

The effect of placing parallel lines on the walking surface on parkinsonian gait was evaluated. To identify the kind of visual cues (static or dynamic) required for the control of locomotion, we tested two visual conditions: normal lighting and stroboscopic illumination (three flashes/s), the latter acting to suppress dynamic visual cues completely. Sixteen subjects with idiopathic Parkinson's disease (nine males, seven females; mean age 68.8 years) and the same number of age-matched controls (seven males; nine females, mean age 67.5 years) were studied. During the baseline phase, Parkinson's disease patients walked with a short-stepped, slow velocity pattern. The double limb support duration was increased and the step cadence was reduced relative to normal. Under normal lighting, visual cues from the lines on the walking surface induced a significant improvement in gait velocity and stride length in Parkinson's disease patients. With stroboscopic illumination and without lines, both groups reduced their stride length and velocity but the changes were significant only in the Parkinson's disease group, indicating greater dependence on dynamic visual information. When stroboscopic light was used with stripes on the floor, the improvement in gait due to the stripes was suppressed in parkinsonian patients. These results demonstrate that the perceived motion of stripes, induced by the patient's walking, is essential to improve the gait parameters and thus favour the hypothesis of a specific visual-motor pathway which is particularly responsive to rapidly moving targets. Previous studies have proposed a cerebellar circuit, allowing the visual stimuli to by-pass the damaged basal ganglia.

Aged↗