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N Le Forestier

Publications and source records attributed to N Le Forestier.

At least 19 recordsLinked to original sources
PubMed2002

APOE: a potential marker of disease progression in ALS.

Although documented in AD, the role of APOE remains unclear in ALS. APOE phenotype and plasma levels were measured in 403 patients with ALS and were correlated with clinical parameters and survival time. No correlations were observed between the APOE phenotype and these variables. In contrast, APOE plasma levels were correlated with both rate of deterioration and survival time and appeared to be an important risk factor for decreased survival time with a relative risk of 0.647 (95% CI: 0.465 to 0.901; p = 0.01).

Adult↗
PubMed2002

[Nocturnal oxymetry in patients with amyotrophic lateral sclerosis: role in predicting survival].

Death is the most important end point along the course of amyotrophic lateral sclerosis (ALS). It is commonly attributed to a respiratory failure in relation with a restrictive respiratory disorder. However, in clinical practice, it is frequent to observe that death has not direct relation with the values of the respiratory function, at least measured with vital capacity. It is also frequent that relatives report sudden death during nocturnal sleep. All these features raised the question of the possible relation between death and nocturnal oxymetry in ALS patients. In a prospective study, we studied 69 ALS patients. We recorded demographic data, clinical parameters as manual muscle testing and functional scales, various parameters of oxymetry measured by pulse oxymetry recorded during night, slow vital capacity and survival time. There is a strong correlation between survival time measured by Kaplan Meier curves and log rank and the mean nocturnal saturation. We determined 93 mmHg as a threshold value. Below this threshold, mean survival time was 7.5+/-1.6 months and above it was equal to 18.5+/-1.5; relative risk was 3.31. These data confirm the importance of nocturnal oxymetry on survival in ALS patients both in clinical practice and in view of therapeutic trials.

Aged↗
PubMed2001

Primary lateral sclerosis: further clarification.

Primary lateral sclerosis (PLS) has been defined as a rare. Non-hereditary disease characterized by progressive spinobulbar spasticity, related to the exclusive involvement of precentral pyramidal neurons, with secondary pyramidal tract degeneration and a preservation of anterior horn motor neurons, the latter allowing PLS to be distinguish from amyotrophic lateral sclerosis (ALS). However, a clear distinction between the two diseases remains a subject of debate. With this in mind, we assessed patients with meeting the previously published criteria for PLS in a prospective, longitudinal study. At regular intervals, we analyzed various clinical and electrophysiological parameters in nine patients with a diagnosis of PLS. We made a deltoid muscle biopsy and PET study.Our results provide evidence that degeneration in PLS is not restricted to the upper motor neurons but also affects the lower motor neurons. The distinction between ALS and PLS is related to the degree and stability of lower motor neuron involvement. In view of the similarities with ALS, we consider that PLS may represent a slowly progressive syndrome closely related to this disease.

Adult↗
PubMed2001

Does primary lateral sclerosis exist? A study of 20 patients and a review of the literature.

The question of whether primary lateral sclerosis (PLS) is a nosological entity distinct from amyotrophic lateral sclerosis (ALS) has been the subject of controversy since it was first described in the nineteenth century. PLS has been defined as a rare, non-hereditary disease characterized by progressive spinobulbar spasticity, related to the selective loss of precentral pyramidal neurones, with secondary pyramidal tract degeneration and preservation of anterior horn motor neurones. In the recent clinical literature, the frontier between ALS and neurodegenerative disease remains poorly defined. We studied 20 patients with a diagnosis of PLS. We carried out a variety of tests in order to determine the presence of a more diffuse neurodegenerative process. We also performed a longitudinal electrophysiological evaluation. Our clinical, electrophysiological and pathological investigations provide evidence that the disease has a heterogeneous clinical presentation and that degeneration is not restricted to the central motor system.

Adult↗
PubMed2000

[True neurological thoracic outlet syndrome].

The thoracic outlet syndrome (TOS) encompasses various clinical entities affecting the neurovascular bundle crossing the thoracic outlet. Unfortunately, this term often proves to be confusing because many of these entities have little in common beyond their known or presumed lesion site. Neurogenic TOS (true TOS) is caused by compression of the lower trunk in the brachial plexus, the cervical ribs or fibrous band. This syndrome is extremely rare. We consider that this neurological form of TOS is a clearly defined neurological syndrome. We report 10 patients with true TOS. All were females. Stating the onset was difficult because symptoms were progressive and insidious. Pain was the most frequently reported symptom. Sensory deficit was slight or absent. All patients showed unilateral severe atrophy of the thenar muscles. Wasting and weakness developed later. A reduced amplitude of ulnar and median compound muscle action potential associated with a normal amplitude of median sensory nerve action and a reduced amplitude of ulnar sensory nerve action potential were indicative of a chronic axon loss in the lower trunk of the brachial plexus. In all cases, we performed medial antebrachial cutaneous sensory nerve action potential, a C8-T1 innervated nerve. The absence of the medial antebrachial cutaneous sensory nerve action potential in 9 patients and a reduction in amplitude of 50 p. 100 compared to the unaffected side in the other patient, indicated the diagnostic value of this easy and reproductible test. It confirmed a C8-T1 post-ganglionic radicular lesion or a lower brachial plexus neuropathy. Radiography showed a rudimentary bilateral cervical rib or an elongated C7 transverse process in all cases. Surgery was performed in the affected side in 7 patients and in each case the lower part of the brachial plexus was found to be stretched and angulated over a fibrous band, which was removed. Pain was relieved after 1 to 4 weeks. A minimal motor improvement was observed after one year. Electrophysiological results were unchanged.

Adult↗
PubMed2000

[What's new in primary lateral sclerosis?].

Primary lateral sclerosis as a nosological entity distinct from amyotrophic lateral sclerosis has been the subject of controversy since it was first described in the nineteenth century. Primary lateral sclerosis has been defined as a rare, non-hereditary disease characterized by highly progressive spinobulbar spasticity, related to the exclusive loss of precentral pyramidal neurons, with secondary pyramidal tract degeneration and preservation of anterior horn motor neurons. We carried out a study in nine patients with a diagnosis of primary lateral sclerosis. Our clinical, electrophysiological and pathological investigations provide evidence that the disease has a heterogeneous clinical presentation and that degeneration is not restricted to the central motor system but also affects the lower motor neuron. In view of this similarity with amyotrophic lateral sclerosis, primary lateral sclerosis may represent a slowly progressive syndrome closely related to motor neuron disease and amyotrophic lateral sclerosis.

Adult↗
PubMed1999

Electrophysiological diagnosis of motor neuron disease and pure motor neuropathy.

Motor neuron disease (MND) is a group of disorders in which there is degeneration of upper and lower motor neurons to a variable degree. Amyotrophic lateral sclerosis is the most frequent form of the disease, presenting with both upper and lower motor neuron involvement. Frequently, especially in the early stages of the disease, only lower motor neuron signs are present. In these conditions, some pure motor neuropathies may resemble MND. The diagnosis is of importance because some of these motor neuropathies are "dysimmune" disorders and may respond to immune therapies. In such diseases the multifocal motor neuropathy with conduction block appears to be the more frequent. In MND and pure motor neuropathies, the electrophysiological examination is the most decisive test. In MND, it is of diagnostic importance. In addition, it is useful in the assessment of disease severity and progression, in the evaluation of therapeutic trials and in the understanding of etiopathogenesis of the disease. In pure motor neuropathies, the presence of conduction block leads to immune treatment with good response in more than 50% of the cases.

Diagnosis, Differential↗
PubMed1998

True neurogenic thoracic outlet syndrome: electrophysiological diagnosis in six cases.

We report 6 patients with true neurogenic thoracic outlet syndrome. All were female and presented unilateral severe atrophy of the thenar muscles. Pain in the affected upper limb was frequently reported, but sensory deficit was slight or absent. Reduced amplitude of ulnar and median compound muscle action potential associated with a normal amplitude of median sensory nerve action potential (SNAP) and a reduced amplitude of ulnar SNAP was indicative of a chronic axon loss in the lower trunk of the brachial plexus. The absence of the medial antebrachial cutaneous SNAP in 5 patients and a reduction in amplitude compared to the unaffected side in the other patient indicated a C8-T1 postganglionic radicular lesion or a lower brachial plexus neuropathy. Radiography showed a rudimentary bilateral cervical rib or an elongated C7 transverse process in all cases. Surgery was performed, and in each case the lower part of the brachial plexus was found to be stretched and angulated over a fibrous band, which was removed. Pain was relieved after 1-4 weeks, but at 1 year, there was only minimal motor improvement and the electrophysiological results were unchanged.

Action Potentials↗
PubMed1998

[Pure motor neuropathy after radiation therapy: 6 cases].

We report clinical and neurophysiological characteristics of six patients (five women and one man) presenting a pure motor bilateral asymmetric proximal and distal weakness in the setting of radiation therapy for Hodgkin's lymphoma in four cases, carcinoma of the uterus in one, and cancer of the ovary in one. Motor deficit, amyotrophy, cramps, fasciculations and tendinous areflexia were confined to the lower limbs in five patients and to the upper limbs in one. No sensory or sphincter disturbance was noted. The progression of the disease was slow with sometimes secondary stabilization. In some patients, CSF showed a slight increase in protein content with no cell. Blood and MRI medullary examination were normal. Delay between radiation therapy and onset of neurological symptoms range from 6 to 24 years (mean 15). Neurophysiological findings suggest ventral roots proximal conduction blocks. We found an increase F-waves latency, a complete distal palsy contrasting with persistent muscle action potential after distal stimulation, in most of the patients; and an evidence of a conduction block between the erb point and the cervical roots using magnetic stimulation in the patient with upper limbs involvement. Mechanisms and sites of nerve radiation injury remains still unclear. These data could indicate, as it was already reported, a proximal damage involving predominantly the motor roots.

Adult↗
PubMed1997

Recurrent polyradiculoneuropathy with the 17p11.2 deletion.

Hereditary neuropathy with liability to pressure palsies (HNPP) classically occurs as recurrent focal neuropathy. We report the first known instance of HNPP manifesting, over a 15-year period, as a recurrent sensorimotor polyneuropathy and confirmed by the presence of the PMP-22 gene deletion. We suggest that the molecular study of the 17p11.2 region could be an effective non invasive investigative tool in cases of chronic recurrent polyneuropathy associated with episodes of nerve palsy.

Adult↗
PubMed1997

Charcot-Marie-Tooth disease type 1A with 17p11.2 duplication. Clinical and electrophysiological phenotype study and factors influencing disease severity in 119 cases.

A clinical and electrophysiological study was performed in 119 Type 1A Charcot-Marie-Tooth disease (CMT1A) patients with proven 17p11.2 duplication. Onset of the first functional manifestations was in the first decade in 50% of cases and before the age of 20 years in 70% of cases. The predominant clinical signs were muscle weakness and wasting in the lower limbs. None of the patients was normal on clinical examination and all presented at least pes cavus or ankle jerk areflexia. Motor nerve conduction velocity (MNCV) was uniformly reduced in all nerves, and was < or = 33 m/s in the median nerve for all patients. Sensory potentials were abnormal in all cases, even where there was no clinical sensory loss. Needle electromyography recruitment was reduced in distal muscles for all patients. MNCV slowing was fully consistent with the presence of duplication even in clinically asymptomatic individuals or in children, confirming the complete electrophysiological penetrance of 17p11.2 duplication and making median nerve MNCV a reliable tool for screening affected at-risk individuals. Functional disability was mild. Ninety-six percent of patients were autonomous; 25% were asymptomatic and diagnosed by systematic family investigation especially on the basis of median nerve MNCV reduction. Early age at onset and greatly reduced median nerve MNCV were predictive of a more severe disease course; the earlier the onset the more reduced the median nerve MNCV and the higher the functional disability tended to be after an equivalent disease duration. Cross-sectional analysis of neurological deficit, functional deficit and MNCV according to disease duration showed that, regardless of age at onset, CMT1A disease with 17p11.2 duplication is a clinically progressive disorder. Neurological deficit and functional disability increased, whereas median nerve MNCV and compound muscle action potential (CMAP) amplitude did not change with disease course. Intrafamilial phenotype variation between parents and children and between siblings was studied in large families. Functional disability and neurological deficit differed widely and the highest range of median nerve MNCV within a family reached 23 m/s. Clinical and electrophysiological data were compared with those of CMT1B patients with peripheral myelin P0 protein point mutation. CMT1A patients were found to be more severely affected with more prolonged distal motor latency and more reduced CMAP amplitude, whereas MNCV did not significantly differ, indicating that peripheral myelin P0 protein point mutation is not always associated with a severe phenotype. The same genetic defect (17p11.2 duplication) results in variable expression within the phenotype, even in siblings with variations in age at onset, clinical severity and MNCV slowing. This phenotypic variation could be due to additional genetic factors related to peripheral myelin protein 22 expression as well as to other endogenous or environmental factors.

Adolescent↗
PubMed1997

[Multifocal motor neuropathies with conduction blocks. 39 cases].

Clinical, biological and electrophysiological features from a cohort of 39 multifocal motor neuropathies with conduction blocks (NMM with CB) have been studied. There were 29 males and 10 females with an average of 47.3. At the first evaluation, the mean duration of the symptoms was of 8 years with extremes between 1 and 28. Pain and paresthesias were present in respectively 10 and 18 p. 100 of the patients. Fasciculations and cramps were observed in more than 2/3 of the cases. Three patients had tremor at rest. Upper limb muscular weakness was the predominant initial symptom (84.6 p. 100). The weakness always affected distal and unilateral muscles. Radial and cubital nerve distribution are mainly affected and in half of the cases an unilateral motor deficit in the lower limb was associated. Muscle atrophy was frequent (74 p. 100) and rapidly developed in the first 2 years. Reflexes were decreased or absent in 64 p. 100. In 78 p. 100 of cases, biological study showed normal serum immunoelectrophoresis and CSF. IgM anti-GM1 antibodies were found in 24/36 patients. Very high titres were found in 5 cases. All patients had CB in upper limbs. The preferential localizations of the CB were equally at the median and ulnar nerves. Only 7 patients had CB localized to the lower limbs. In many cases, marked reduction of the motor amplitude prevented the detection of CB, marked reduction of the motor amplitude prevented the detection of CB. Moderate fibrillation potentials were found in 28 p. 100 of patients. Giant muscular unit potentials were frequent (21/39). F-waves in nerve with CB were always abnormal with marked increased latencies. Late responses sometimes seemed to be repeater F-waves. Axon reflexes were detected in 5 cases. The late responses abnormalities could precede the block. Clinical, biological and electrophysiological described arguments could may distinguish NMM with CB from motor neuron disease and relate them to the group of chronic demyelinating neuropathies.

Adult↗
PubMed1997

[Charcot-Marie-Tooth disease: electromyography is still useful in diagnosis and classification].

Genetic heterogeneity was known for a long time in Charcot-Marie-Tooth disease (CMT). The recent findings in molecular biology emphasized the distinction in different types of the disease. Nevertheless, electrophysiological examinations are of a great interest to detect asymptomatic patients, to classify the different forms and to make correlations with the clinical and histological features. Current classification is based on genetic and electrophysiologic data. CMT1, or hypertrophic form in which mutations or a duplication were found on chromosome 17 is the most frequent (CMT1A), CMT2 is the neuronal form, CMT3 is termed the Dejerine-Sottas disease, CMT4 recessive forms, CMT5 a form with associated pyramidal features, and CMTX. The electrophysiologic aspects of these different types are reported.

Charcot-Marie-Tooth Disease↗
PubMed1996

[Electrophysiologic study, diagnosis and cases of acquired sensory polyneuropathy].

Sensory neuropathies encompass a group of neuropathies affecting solely or predominantly peripheral sensory nerves. They are rarely encountered in clinical practice. The authors review sensory nerve conduction studies and compare the various recording technics. Values of compound sensory action potential amplitude and sensory nerve conduction velocity are analyzed. On the basis of clinical and electrophysiological sensory impairment, three types of neuropathies can be proposed: neuropathies with either large, small or total myelinated fibers involvement. Lastly definable causes of sensory neuropathies are reviewed.

Action Potentials↗
PubMed1994

Transforming growth factor alpha (TGF alpha) expression in degenerating motoneurons of the murine mutant wobbler: a neuronal signal for astrogliosis?

The enhanced expression of the trophic factor transforming growth factor alpha (TGF alpha) in reactive astrocytes following CNS injury suggests that TGF alpha has a role in the development of astrogliosis. We explored this hypothesis in the murine mutant wobbler, which presents a progressive motoneuronal degeneration associated with an astrogliosis. Evolution of astrogliosis, and expression of TGF alpha precursor (pro-TGF alpha) and of its receptor were examined over the course of the disease, using genetically diagnosed animals and immunocytochemical techniques. We report here that degenerating motoneurons of the cervical spinal cord and a subset of astrocytes express pro-TGF alpha, prior to the onset of astrogliosis, when the first clinical manifestations of the disease are observed at 4 weeks of age. TGF alpha expression appeared strongly correlated with motoneuronal degeneration. All pro-TGF alpha-immunoreactive neurons exhibited a degenerative morphology, and the number of pro-TGF alpha-immunoreactive neurons increased with the progression of the disease. At the glial level, we observed that astrogliosis was a transitory phenomenon in the wobbler mice, developing in coordination with the motoneuronal expression of pro-TGF alpha. Astrogliosis became evident in 6-week-old wobbler mice, when the number of pro-TGF alpha-immunoreactive motoneurons was maximal, and regressed in older mutant mice in correlation with the disappearance of pro-TGF alpha-immunoreactive motoneurons. Furthermore, TGF alpha/EGF receptor immunoreactivity was exclusively localized in a subset of reactive astrocytes, its expression following closely the course of the astrogliosis. These data show that TGF alpha synthesis by the affected motoneurons is an early event in the course of the wobbler disease, and suggest a role for TGF alpha as a neuronal inducer of astrocytic reactivity.

Animals↗