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Biomedical subjects

J Pouget

Publications and source records attributed to J Pouget.

At least 19 recordsLinked to original sources
PubMed2006

Multifocal motor neuropathy with and without conduction block: a single entity?

OBJECTIVE: To assess if multifocal motor neuropathy (MMN) with and MMN without conduction block (CB) are similar or distinct diseases. METHODS: The authors reviewed the clinical features and responses to IV immunoglobulin (IVIg) treatment of patients with MMN with and without CB at diagnosis, after 4 years of follow-up and at the last examination. They included all patients showing clinical features of MMN who had been followed for at least 4 years: All had asymmetric purely motor weakness with a peripheral nerve distribution, without any sensory, bulbar, or respiratory signs and without any upper motor neuron involvement. RESULTS: Twenty patients had CB and 13 had no CB. Median follow-up time was 7 years. There were no differences between the two groups in term of age, sex, time from onset to diagnosis, anti-GM1 antibody titers, or CSF data. Nerve distribution, number of affected limb regions, predominant weakness in distal upper extremities, asymmetric weakness, cramps, fasciculations, and Medical Research Council sum-scores in upper and lower limbs were comparable at diagnosis, 4 years of follow-up, and last examination. Few significant differences were observed. Involvement of median nerve was less frequent at 4 years of follow-up (14/20 vs 4/13; p = 0.027) and at the last examination (17/20 vs 5/13; p = 0.009) in patients without CB. Proximal weakness was less frequent in patients with MMN without CB at the last examination (7/20 vs 0/13; p = 0.027). Fewer nerves were involved in patients without CB at the last examination (4.5 vs 2; p = 0.04). Efficacy of IVIg was similar in MNN patients without CB (8/13) and with CB (14/20; p > 0.05). CONCLUSION: After a median follow-up time of 7 years, patients with and without conduction block showed similar clinical features and a similar response to IV immunoglobulin treatment.

Adult↗
PubMed2006

The G526R glycyl-tRNA synthetase gene mutation in distal hereditary motor neuropathy type V.

BACKGROUND: Distal hereditary motor neuropathy (dHMN) or distal spinal muscular atrophy (dSMA) is a heterogeneous group of disorders characterized almost exclusively by degeneration of motor nerve fibers, predominantly in the distal part of the limbs. One subtype, dHMN type V (dHMN-V), is transmitted by autosomal dominant inheritance and predominantly involves the hands. It is allelic with Charcot-Marie-Tooth disease 2D (CMT2D), in which a similar phenotype is associated with sensory signs. Missense mutations in the glycyl-tRNA synthetase (GARS) gene have been recently reported in families with either dHMN-V, CMT2D, or both. METHODS: The authors searched for GARS mutations in eight dHMN-V families. RESULTS: The authors found the G526R missense mutation in three families (16 patients) of Algerian Sephardic Jewish origin. All patients shared a common disease haplotype, suggestive of a founder effect. The clinical phenotype consists of a slowly progressive, purely motor distal neuropathy. It starts in the hands in most patients, but also in both distal upper and lower limbs or in distal lower limbs alone. The age at onset in symptomatic individuals was between the second to fourth decades, but four mutation carriers were still asymptomatic, two of whom were already age 49 years. Electrophysiology showed that the motor fibers of the median nerve were the most affected in upper limbs. Sensory nerve action potentials were normal. CONCLUSIONS: The age at onset of patients with the G526R mutation in the GARS gene varied widely, but the clinical and electrophysiologic presentation was uniform and progressed slowly. Glycyl-tRNA synthetase mutations are a frequent cause of familial distal hereditary motor neuropathy type V but, because of the reduced penetrance of the disease, could also account for isolated cases.

Age of Onset↗
PubMed2006

Diagnostic evaluation of clinically normal subjects with chronic hyperCKemia.

The authors analyzed muscle biopsy specimens of 104 patients with creatine kinase activity greater than 500 UI/L (normal 10 to 170 UI/L) without signs of muscle weakness. They achieved a definite or probable diagnosis in 55% of cases. The most frequently identified diseases were glycogen storage diseases, muscular dystrophies, and inflammatory myopathies. The probability of making a diagnosis was higher in children and when creatine kinase level was greater than 2,000 UI/L.

Adolescent↗
PubMed2006

Covariation of corticospinal efficiency and silent period in motoneuron diseases.

For a better understanding of the changes affecting the cortically induced silent period (SP) in motoneuron disease, the excitatory and inhibitory effects of transcranial magnetic stimulation were explored repeatedly in 8 patients with amyotrophic lateral sclerosis (ALS), 3 patients with Kennedy's disease (KD), and 10 healthy subjects. In KD, the background electromyogram (EMG) and the motor evoked potential (MEP) area were both enhanced. However, neither the corticospinal efficiency (MEP gain, the ratio between MEP and background EMG) nor the duration of the SP differed from healthy subjects. In ALS patients, the MEP gain and the SP duration decreased conspicuously with time. We conclude that use of the MEP gain improves detection of corticospinal dysfunction in ALS patients. Part of the SP shortening in ALS seems to reflect the reduced activation of cortical or spinal inhibitory networks by the abnormal corticospinal pathway.

Adult↗
PubMed2006

[Assessment of dysarthria and dysphagia in ALS patients].

Swallowing and speech disorders are the dramatic consequences of bulbar and pseudo-bulbar syndrome in ALS. Evaluation is necessary to guide speech therapy and to measure the effects of treatment. This article revues the different examinations used to assess bulbar and pseudobulbar involvement in an ALS patient: oromotor assessment, evaluation of the functions with self assessment, perceptive and objective evaluation of speech disorders, fiberoptic endoscopic evaluation of dysphagia (FEES) and videofluoroscopy.

Amyotrophic Lateral Sclerosis↗
PubMed2006

[Stiff man syndrome: clinical forms, treatment and clinical course].

INTRODUCTION: Stiff-Man syndrome (SMS) is a rare neurological disease first described fifty years ago. There are several clinical forms, which are frequently misdiagnosed. The aim of this study is to review three of the main clinical forms. MATERIAL AND METHODS: Case reports concerning three women suffering from different forms of SMS are presented, giving the main clinical features, their associations with other diseases, and the biological and electrophysiological findings. RESULTS: The first patient presented a symmetric axial muscle rigidity, painful spasms and contractions of the trunk and limbs associated with anti-GAD antibodies. The common form of SMS was diagnosed and the patient was improved by intravenous immunoglobulin (IVIg). The second patient suffered from contractions and spasms localized to the lower limbs. In this patient, anti-GAD antibodies were absent. The Stiff-Leg syndrome was diagnosed and the patient was improved by intrathecal baclofen. The third patient presented rigidity of limb and trunk muscles associated with signs of encephalitis. In this patient, only anti-amphiphysin antibodies were present. The progressive encephalomyelitis with rigidity was diagnosed and the patient was improved by IVIg associated with corticosteroid. CONCLUSION: Identifying patients with SMS makes it possible to propose appropriate medical management. There are several forms of the disease, and the severity of the evolution differs in each case. Treatment with GABA-ergic inhibitory drugs, IVIg and corticosteroid improve both the symptomatology and the quality of life of these patients.

Aged↗
PubMed2006

[Idiopathic chronic dysautonomia: when should the diagnosis be made?].

INTRODUCTION: Chronic autonomic disorders may complicate a wide range of conditions which can be divided into secondary, due to specific diseases, and primary, in which no cause has been determined. CASE REPORT: We report the case of a 43-year-old woman, who presented a chronic autonomic failure, which had begun by symptomatic orthostatic hypotension. Progressively, syncopes became daily, causing considerable discomfort associated with other signs of sympathic dysfunction: unilateral Horner's syndrome, diarrhea and hypohidrosis. The autonomic involvement was confirmed by study of the cardiovascular responses to tilt-up and electrophysiological autonomic testing. Etiologic search for a chronic acquired neuropathy (diabetes, amyloidis, paraneoplastic) or an inherited neuropathy was not conclusive. After five years, dysautonomic symptoms increased, but remained isolated. The physical examination did not show other clinical abnormalities such as cerebellar, pyramidal or extrapyramidal failure in favor of a multiple system atrophy or Parkinson's disease. All these data suggest the diagnosis of a primary autonomic failure. CONCLUSION: The diagnosis of primary autonomic failure is difficult to make because it requires that all the investigations in search of an etiology are negative and a long follow-up to be sure that dysautonomic symptoms persist isolated after many years of progression.

Adult↗
PubMed2006

[Electroneuromyographic criteria of amyotrophic lateral sclerosis].

Electrophysiological study plays a key role in the diagnosis of amyotrophic lateral sclerosis (ALS). ENMG demonstrates lower motor neuron involvement in muscles clinically involved but also in non clinically involved territories. Conventional EMG shows mixed signs of active denervation, partial chronic denervation and fasciculation, in a variable pattern from one muscle to another. The choice of the muscles to be recorded will privilege muscles innervated by motor neurons from bulbar region, cervical, thoracic and lumbar medulla in order to define the extension of the pathological process. Special ENMG techniques (single fiber EMG, macro-EMG, motor unit firing study, motor unit number estimate) have been proposed for the evaluation and better understanding of pathophysiology. They are not used in routine. Motor conduction study demonstrates motor axons loss and excludes nerve conduction abnormalities of a demyelinating motor neuropathy. Sensory conduction and sensory nerve action potential amplitude are normal in ALS, even in severely motor involved territory. Electrophysiological study can show upper motor neuron involvement when studying motor evoked potentials using transcranial magnetic stimulation of motor cortex. Several parameters have been studied. They are diversely affected and so their diagnostic sensitivity also varies.

Amyotrophic Lateral Sclerosis↗
PubMed2005

Transcranial magnetic stimulation in lower motor neuron diseases.

OBJECTIVE: To study the diagnostic value of transcranial magnetic stimulation (TMS) in a group of patients with lower motor neuron disease (LMND). Among LMND, several chronic immune mediate motor neuropathies may simulate amyotrophic lateral sclerosis (ALS). METHODS: Forty patients with LMND were included TMS was performed at the first visit. The patients were seen prospectively every 3 months for a period of 1-4 years. RESULTS: Three different groups were distinguished at the end of follow-up: (1) ALS group with 7 patients, (2) Pure motor neuropathy with 14 patients and (3) Other LMND including 12 patients with hereditary spinal amyotrophy, 3 patients with Kennedy's disease and 4 patients with post-poliomyelitis. On the basis of the results of TMS variables, 6 out of 7 ALS patients had abnormality of silent period (SP) associated or not with abnormality of excitatory threshold or amplitude ratio. Patients with pure motor neuropathy had normal SP and amplitude ratio. Four out of 14 patients had increased central motor conduction time (CMCT), one had increased CMCT and excitatory threshold, and one patient had a slightly increased excitatory threshold. Considering the abnormality of TMS variables in the groups, SP, excitatory threshold, and amplitude ratio were chosen in a post-hoc attempt to select variables yielding high sensitivity and specificity. The overall sensitivity of TMS for diagnosis of ALS among LMND was 85.7%, its specificity was 93.9%. When only the abnormality of SP was taken into account, the sensitivity was unchanged. But the specificity was improved to 100%. CONCLUSIONS: TMS helped to distinguish suspected ALS from pure motor neuropathy.

Adult↗
PubMed2005

[Chronic inflammatory demyelinating polyradiculoneuropathy: diagnostic strategy. Guidelines of the French CIDP study group].

Chronic inflammatory demyelinating polyradiculoneuropathy (CIDP) comprises a group of dysimmune neuropathies easily diagnosed in more than half of the patients. Diagnosis is based on clinical, electrophysiological and biological clues. In some patients, diagnosis is unclear because of the debated value of the available clues. In such circumstances, dysimmune neuropathies may not be diagnosed, leading to insufficient treatment. This is an important category of patients because immunomodulatory drugs have proven efficacy. The CIDP spectrum includes a relatively wide range of diseases. Besides the easily recognized classic forms, there are many clinical variants, sometimes with a paucisymptomatic presentation leading to uncertain diagnosis. The French CIDP study group has established guidelines for diagnostic strategy in CIDP patients. The first part of this paper is devoted to the clinical aspects of the disease, classical forms and variants. In the second part, the results of electrophysiological studies are reported. In a third chapter, complementary examinations useful for diagnosis are discussed. The fourth chapter deals with the diagnostic strategy, discussed in relation to the different situations which may be encountered in clinical practice. details the technical modalities of appropriate electrophysiological studies and presents normal results together with those indicating demyelinating neuropathy. Nerve biopsy technique and results are given in appendix II.

Humans↗
PubMed2005

Towards the molecular elucidation of congenital myasthenic syndromes: identification of mutations in MuSK.

Congenital myasthenic syndromes (CMS) are rare genetic diseases affecting the neuromuscular junction (NMJ) and characterized by a dysfunction of the neurotransmission. They are heterogeneous at the pathophysiological level and can be classified in three categories according to their origin: presynaptic, synaptic or postsynaptic. The strategy for the diagnosis and characterization of CMS relies on the clinic, EMG, muscle biopsy, identification of mutations in genes known to be responsible for CMS and the demonstration that the gene mutations are the cause of the disease by using experimental approaches. As an example of such strategy, we report briefly here the characterization of the first case of a human neuromuscular transmission dysfunction due to mutations in the gene encoding a postsynaptic molecule, the muscle-specific receptor tyrosine kinase (MuSK). Gene analysis identified two heteroallelic mutations, a frameshift mutation (c.220insC) and a missense mutation (V790M). The muscle biopsy showed marked pre- and postsynaptic structural abnormalities of the neuromuscular junction as well as a severe decrease in acetylcholine receptor epsilon-subunit and MuSK expression. In vitro and in vivo expression experiments were performed using mutant MuSK reproducing the human mutations. The results obtained strongly suggested that the missense mutation, in the presence of a null mutation on the other allele, was responsible for the severe synaptic changes observed in the patient and, hence, is causing the disease. However the molecular origin of a large number of CMS is still unknown. There are hundreds of molecules known to be present at the NMJ and mutations in the genes coding for these synaptic molecules are likely to be responsible for a neuromuscular block.

DNA Mutational Analysis↗
PubMed2004

Myositis in infiltrative lymphocytosis syndrome: clinicopathological observations and treatment.

Diffuse infiltrative lymphocytosis syndrome (DILS) is characterized by the presence of persistent circulating CD8 lymphocytosis and visceral CD8 lymphocytic infiltration, predominantly in the salivary glands and lungs in a subset of human immunodeficiency virus (HIV) patients. Myositis has been rarely documented in DILS. We report here the histopathological abnormalities and treatment response of an HIV patient with DILS associated myositis. Muscle biopsy revealed features of polymyositis but electron microscopy study showed intranuclear filamentous inclusions of 18 nm diameter, without intracytoplasmic inclusion. Treatment with intravenous immunoglobuline was useful.

Antigens, CD↗
PubMed2004

[Progressive spastic paraplegia as a presentation of oculodentodigital syndrome].

Oculodentodigital syndrome (ODD) is a rare congenital disorder which associates eyes and facial abnormalities, defects in teeth enamel and type III syndactyly. The causal genetic defect in this syndrome is still unknown. Some patients with ODD syndrome also manifest spastic paraparesis. In most cases, inheritance is autosomal dominant with variable clinical expression. Herein, we report on a patient with ODD syndrome, who was referred for evaluation of spastic paraplegia. Our observations show that ODD syndrome can be recognized in late adulthood and revealed by spastic paraplegia.

Abnormalities, Multiple↗
PubMed2004

[Molecular diagnosis of hereditary neuropathies such as Charcot-Marie-Tooth disease].

During the last decade, molecular biology has demonstrated the extraordinary heterogeneity of genetic abnormalities in Charcot-Marie-Tooth disease (CMT). The main phenotypes are either of the demyelinating or axonal type, transmitted with dominant or recessive autosomal inheritance. X-linked CMT is less rare than it was initially described and is often misdiagnosed as autosomal dominant type. Linked phenotypes are Dejerine-Sottas disease, congenital hypomyelinization and hereditary neuropathy with susceptibility to pressure palsies. Each phenotype can be due to different genotypes and concerned genes are numerous. Conversely, each genotype can express different phenotypes. Molecular diagnostic strategy of CMT is mainly baised on three elements: - phenotypic expertise which is based on the analysis of the inheritance mode and on electrophysiological data, which are peculiar in CMTX - knowledge of respective occurrence of the different genotypes and phenotypes which is increasing - technical feasibility of molecular biology methods which is important to consider, even though progress are fastly coming. According to these considerations, a strategy is proposed for molecular diagnosis of CMT.

Algorithms↗