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J P Azulay

Publications and source records attributed to J P Azulay.

At least 37 records · Page 2Linked to original sources
PubMed2001

Terminal latency index and modified F ratio in distinction of chronic demyelinating neuropathies.

OBJECTIVE: To evaluate indexes calculated from standard electrophysiological data in differentiating chronic demyelinating polyneuropathy (CDP). METHODS: Nerve conduction study of upper limbs was investigated in 19 chronic inflammatory demyelinating polyneuropathy (CIDP) patients, 25 anti-myelin-associated glycoprotein/sulfated glucuronyl paragloboside antibodies (MAG/SGPG) CDP patients, 13 Charcot-Marie-Tooth disease type 1A (CMT1A) patients and 22 controls. Terminal latency index (TLI) was used to compare the wrist-to-thenar muscle segment with the elbow-to-wrist conduction velocity. Modified F ratio (MFR) was used to compare the spinal cord-to-elbow segment latency with that of the wrist-to-thenar muscle segment. RESULTS: Compared with controls, TLI was decreased in 21 anti-MAG/SGPG CDP patients while MFR was either decreased or was normal. In 16 CIDP patients, MFR was increased while TLI was either normal or increased. In CMT1A both TLI and MFR were in normal ranges. The sensitivity of MFR as a supportive finding in CIDP was found to be 84% and its specificity 89%. The sensitivity of TLI as a mean of diagnosis of anti-MAG/SGPG CDP was found to be 93% and its specificity 90%. CONCLUSIONS: The results of TLI and MFR facilitates distinction between different types of CDP. In CIDP, MFR was significantly higher and TLI showed no change; in the anti-MAG/SGPG CDP, TLI and MFR were significantly lower; in CMT1A, TLI and MFR showed no change in comparison with the controls.

Adult↗
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

Prenatal detection of a 17p11.2 duplication resulting from a rare recombination event and novel PCR-based strategy for molecular identification of Charcot-Marie-Tooth disease type 1A.

Charcot-Marie-Tooth disease, type 1A (CMT1A) is caused in most cases by a 1.5 Mb duplication on chromosome 17p11.2 arising after unequal crossing-over between repeated sequences called CMT1A-REPs, flanking the 1.5 Mb unit. A 3.2 kb recombination hot spot has been defined, resulting in a junction fragment between EcoRI (distal CMT1A-REP) and SacI (proximal CMT1A-REP). This was further reduced to a 1.7kb EcoRI-NsiI fragment, and recently to a 731 bp hot spot region within this fragment. We describe the CMT1A-REPs-based PCR method used to identify CMT1A duplications and report on a family case in which a 29-year-old pregnant woman requested prenatal diagnosis for two successive pregnancies because her husband was affected with CMT1A. Our method enabled us to characterise the duplication in both foetuses and demonstrate that it arose from a rare recombination event taking place outside the 1.7 kb region. Since our approach is simple and enables the entire set of duplications occurring after recombination in the enlarged 3.2kb region including the hot spot to be detected, we suggest it might be considered for use in primary screening for pre- and postnatal diagnosis of CMT1A.

Charcot-Marie-Tooth Disease↗
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↗
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

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↗
PubMed1999

[Superficial siderosis of the central nervous system].

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.

Adult↗
PubMed1999

[Epilepsy in an adult with chromosome 22q11 micro-deletion].

Chromosome 22q11 deletion is a frequent genetic anomaly, recently discovered, responsible for DiGeorge syndrome and velo-cardio-facial syndrome. The spectrum of clinical features is large: dysmorphic syndrome, mental delay, conotroncal cardiopathy; neurologic manifestations are not rare. Case report is a 28 year old man who presented a symptomatic epilepsy caused by stroke, associated with conotroncal cardiopathy, mental delay, hypocalcemia and facial dysmorphy. A cytogenetic study confirmed the chromosome 22q11 deletion.

Adult↗
PubMed1999

[Posture and gait modulation using sensory or attentional cues in Parkinson's disease. A possible approach to the mechanism of episodic freezing].

Parkinsonian patients have difficulties for walking as well as for adapting their posture following a voluntary or automatic movement that will disturb their equilibrium. Furthermore, in Parkinson's disease, the patients can suffer for motor blockades (or freezing) in which the movement is like frozen during its execution. These motor blockades can occur during gait initiation, turning round, as well as during the walking through apertures or small passages, but with a high variability as inter-individual as intra-individual. Cognitive, attentional or sensory stimulation--especially visual information--can interact directly on these motor blockades, either positively inhibiting them or negatively inducing them. The different modulation factors of locomotion as well as posture, in Parkinsonian patient and in healthy elderly, and the special case of the motor blockades in Parkinsonian patients are reviewed here. We also examine the effects of L-DOPA with respect to each of these factors. In the conclusion, the modulation of gait, posture, and freezing are discussed in term of mechanisms involved or hypothesis recently proposed.

Adaptation, Physiological↗
PubMed1997

Long term follow up of multifocal motor neuropathy with conduction block under treatment.

Eighteen patients (15 men, three women; age range 30 to 71 years, mean 45.8 years) with multifocal motor neuropathy treated with high dose intravenous immunoglobulin (IVIg) were evaluated for nine to 48 months (mean follow up 25.3 months). The median time between onset of multifocal motor neuropathy and treatment was 5.8 years. The dose of IVIg was 0.4 g/day for three to five days. The interval between each treatment was determined for each patient by the evaluation of the effect of the first course. Muscle strength was evaluated by a computerised analyser. Clinical improvement was seen in 12 patients treated with IVIg (67%). Isometric strength increased from 32% to 97% (mean 54.5%) of the initial value. Functional scales corroborated these findings. No clear predictive factors of response to IVIg was found except the presence of high titres of IgM anti-GM1 antibodies. Often, patients needed repeated courses of IVIg to maintain the improvement. In two patients, IVIg infusions were stopped without signs of relapse after one year. Four patients were initially treated with prednisone (1 mg/kg/day), without any clear improvement. Five patients with no response to IVIg or who were IVIg dependent were treated with cyclophosphamide, but only one showed improvement. These results show the long term benefits and safety of IVIg in multifocal motor neuropathy but also the transient effect of this expensive treatment in most patients.

Adult↗
PubMed1997

[Variable and recurrent ptosis and ophthalmoplegia in chronic polyradiculoneuritis].

Fluctuating ptosis and diplopia are typical features of myasthenia gravis. This report describes four patients who developed these symptoms and in whom the investigations have demonstrated typical features of chronic inflammatory polyradiculoneuropathy. Ptosis and ophtalmoplegia were in most the cases unilateral and were sometimes painful. The evolution was fluctuant with episodic exacerbations. These unusual clinical features have responded like other features of CIDP to corticosteroids or to intravenous immune globulin but relapses are always possible. We did not find in the serum of three patients anti-GQ1b IgG antibodies as previously found in Miller-Fisher syndrome or in Guillain-Barré syndrome associated with ophtalmoplegia. Considering these results, on can argue that other immune mechanisms are involved.

Adrenal Cortex Hormones↗
PubMed1996

A controlled one-year trial of dextromethorphan in amyotrophic lateral sclerosis.

In a one-year parallel group double-blind placebo-controlled study of dextromethorphan (1.5 mg/kg) in amyotrophic lateral sclerosis, no significant differences were observed in the rate of progression (Norris scale) in comparing 24 patients randomly assigned to the dextromethorphan group and 25 patients randomly assigned to the placebo group. Of the 24 patients in the dextromethorphan group, 17 had limb onset and 7 had bulbar onset disease; average duration of disease was 12.5 +/- 6 months and sex ratio (M:F) was 1.4:1. Of the 25 patients in the placebo group, 18 had limb onset and 7 had bulbar onset disease; average duration of disease was 9.9 +/- 6 months and sex ratio (M:F) was 1.55:1. Dextromethorphan is a weak noncompetitive N-methyl-D-aspartate (NMDA) antagonist and higher doses or other potent NMDA receptor antagonists should be tested.

Adult↗