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Biomedical subjects

J P Azulay

Publications and source records attributed to J P Azulay.

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 extent of the clinical manifestations of chronic polyradiculoneuropathy].

BACKGROUND: Chronic inflammatory demyelinating polyradiculoneuropathy is an autoimmune disease that target myelin sheats of peripheral nerves. Its diagnosis is often difficult to make, and a number of cases are probably not identified because of the clinical heterogeneity. Numerous sets of diagnostic criteria have sought to define CIDP but clinical criteria are generally not detailed. OBJECTIVES: To review the main clinical characteristics suggestive of CIDP (that means not compatible with a length-dependent axonal process) and the critical clinical points of the neuropathy which make the differential diagnosis with the main other forms of chronic auto immune neuropathy sometimes difficult. RESULTS: The main clinical characteristic are: a symmetric proximal and distal motor weakness predominantly affecting the lower limbs, a diffuse areflexia, a sensory deficit characterized by a preferential involvement of large fibers, an evolution which may be either chronic progressive or recurrent. These aspects raise many questions concerning overlap with other inflammatory neuropathies such as Guillain Barre syndrome, Lewis-Sumner neuropathy, chronic ataxic neuropathy. The distinction of a subgroup of CIDP associated with other diseases such as diabetes or HIV are also controversial. CONCLUSION: The growing body of knowledge on the pathogenesis of CIDP and clinical or electrophysiological differentiation of subforms may help to develop more effective therapies for CIDP in the next few years.

Chronic Disease↗
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

[The diagnosis of chronic axonal polyneuropathy: the poorly understood chronic polyradiculoneuritides].

Chronic inflammatory demyelinating polyradiculoneuropathy is an autoimmune disease that target myelin sheats of peripheral nerves. Its diagnosis is often difficult to make, and a number of cases are probably not identified because of the clinical and electrophysiological heterogeneity. Typical cases associate progressive or relapsing-remitting motor and sensory deficit with increased CSF protein content and electrophysiological features of demyelination. In some cases electrophysiological studies fail to show evidence of demyelination, conventional electrophysiological diagnostic criteria are not filled yet the patient may respond to immunomodulatory treatments. In such cases, presence of clinical characteristics suggestive of CIDP (that means not compatible with a length-dependent axonal process) are critical justifying fully investigations including sural nerve biopsy. The main clinical characteristic are: a symmetric proximal and distal motor weakness predominantly affecting the lower limbs, a diffuse areflexia, a sensory deficit characterized by a preferential involvement of large fibers, an evolution which may be either chronic progressive or recurrent. Usual therapeutic agents (corticosteroids, intravenous immunoglobulins, plasma exchanges) seem to have the same efficacy whatever the electrophysiologic profile.

Axons↗
PubMed2006

Orthopaedic shoes improve gait in a Charcot-Marie-Tooth patient: a combined clinical and quantified case study.

The aim of this study was to assess the extent to which orthopaedic shoes improved gait in a patient with Charcot-Marie-Tooth (CMT) disease and to show how the latest gait analysis tools available can help to assess and quantify the efficacy of this treatment. The case of a 55-year-old woman with CMT disease is described. She complained mainly of pain and frequent falling. The physical examination and the clinical gait analysis showed the presence of bilateral foot drop, high-stepping and varus. Treatment based on physical therapy and orthopaedic shoes was prescribed. In order to assess the clinical efficacy of the treatment, a complete physical examination was carried out after the patient had been wearing the orthopaedic shoes for one month. The quantified assessment was performed with a Gaitrite system, which can be used to record the spatio-temporal parameters of gait. It was concluded that orthopaedic shoes provide specialists in physical and rehabilitation medicine with an excellent means of treating gait disabilities in patients with CMT disease. With the made-to-measure orthopaedic shoes used, the falling and pain disappeared; the patient's walking speed increased and the foot support base decreased in size. Both the clinical and quantified data confirmed the subjective improvement perceived by the patient. The latest tools available for performing quantified gait analysis in clinical practice provide useful means of objectively assessing the success of treatment.

Charcot-Marie-Tooth Disease↗
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

[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

[Vasculitis and diseases of the peripheral nervous system].

Vasculitis commonly induces peripheral neuropathies. Neuropathy is isolated in one third of the cases or participates in a multisystemic disorder. The pathological mechanism is tissular ischaemia induced by inflammation and lesions of vessel walls. Pathophysiological classification of vasculitis is mainly based on the size of affected vessels but other approaches may be proposed such as immunological classification considering the presence or absence of immunological markers. The diagnosis is supported by neuropathological examination of muscle and nerve biopsies, but electrophysiological testing may contribute to establish the diagnosis and the prognosis of the disease by showing the highly suggestive pattern of multitroncular involvement and by evaluating the extent of the neuropathy and of axonal loss. In most cases, treatment with steroids and other immunosuppressive agents result in good but partial improvement.

Electrophysiology↗
PubMed2002

Nonmotor fluctuations in Parkinson's disease: frequent and disabling.

OBJECTIVE: To assess the frequency and disability caused by nonmotor fluctuations (NMF) in PD. METHODS: A structured questionnaire was administered to 50 patients with PD with motor fluctuations (MF), focused on 54 nonmotor symptoms classified in three subgroups: 26 dysautonomic, 21 cognitive and psychiatric, and seven pain/sensory NMF. The link between each NMF and the motor state was determined. Patients were asked to grade their disability from 0 (no disability) to 4 (maximum discomfort) and to specify which kind of fluctuation subgroup (motor or nonmotor) was the most incapacitating. A statistical analysis was performed to determine the frequency of each NMF and to determine whether the level of disability resulting from NMF could be correlated to the main characteristics of the population. RESULTS: All patients had had at least one type of NMF, most of which were associated with the "off" state. Anxiety (66%), drenching sweats (64%), slowness of thinking (58%), fatigue (56%), and akathisia (54%) were the most frequent NMF. Some symptoms such as anxiety or dyspnea correlated with a greater level of disability. The total number of NMF was found to be correlated with the motor disability. Incapacity resulting from the dysautonomic fluctuations was also significantly correlated with levodopa treatment. Surprisingly, 28% of the patients stated that NMF involved a greater degree of disability than MF. CONCLUSION: Nonmotor fluctuations are frequent and debilitating in PD.

Aged↗
PubMed2002

Myopathy with lobulated muscle fibers: evidence for heterogeneous etiology and clinical presentation.

The clinico-pathological features of 17 patients displaying a myopathy with lobulated (trabeculated) fibers are reported. All these patients had a limb girdle phenotype and at least 20% of lobulated fibers in their muscle biopsies. There were ten females and seven males. The onset of symptoms ranged from 2 to 55 years (mean 24). The average age at the time of muscle biopsy was 39 (range 3-63). Interestingly, in six patients, high prevalence of lobulated fibers was observed at the second biopsy only, performed on average 11 years after the first or in another muscle. Six patients had a suggestively positive family history. Facial weakness was noted in two patients (genetic study confirmed FSH dystrophy). The course and the severity of weakness varied from one patient to another. Immunohistochemistry and Western blot analyses revealed one Duchenne carrier, one alpha-sarcoglycanopathy, no dysferlinopathy and four calpain deficiencies (including one patient with FSH dystrophy), but SSCP revealed mutation in the calpain gene in only one of the patients. These results show that (1) myopathies with lobulated fibers are clinically and genetically heterogeneous, (2) lack of calpain expression by Western blot analysis is not always associated with null mutation, (3) a molecular diagnosis is made in less than 40% of myopathy with lobulated fibers, (4) when observed, lobulated fibers are most prominent in proximal muscles and require time to appear.

Adolescent↗
PubMed2002

[Guillain-Barre syndrome and its frontiers].

Knowledge concerning Guillain-Barré syndrome (GBS) has been largely extended these past ten years. The first description by Guillain, Barre and Strohl in 1916 established the main clinical and biological characteristics of the syndrome: acute motor weakness affecting at least one limb associated with areflexia. The syndrome was at first restricted to the concept of an acute inflammatory demyelinating polyneuropathy after the first large electrophysiological and histological studies (Asbury et al., 1969). This restricted definition of the GBS was changed by the report of Feasby in 1986 of an axonal variant of the syndrome. This proposal remained controversial until large studies reported that GBS in Northern China occurs in epidemics, predominantly involving young adults and children and characterized electrophysiologically by pure motor axonal features (AMAN). Additional studies showed that another GBS variant may result from an attack against both motor and sensory axons (AMSAN). Previously in 1956 CM Fisher described a clinical triad of ataxia, areflexia and ophthalmoplegia associated with albumino-cytologic dissociation and excellent recovery which was considered immediately part of the GBS. The physiopathology of the syndrome was recently determined (anti-GQ1b antibodies). A number of clinical variant of more limited scope have also been described. Plasma exchanges and intravenous immunoglobulin (IVIg) are the gold standard therapies for the demyelinating form and probably for the other variants despite the absence of controlled trials.

Acute Disease↗
PubMed2001

[Diabetic neuropathies].

Peripheral nerve involvement is a frequent complication of type 1 and type 2 diabetes, and can induce major disability. Almost all types of clinical or electrophysiological disturbances may be present: mononeuropathy involving cranial nerves or a limb; multiple mononeuropathy; proximal acute radiculopathy; distal, symmetric, sensory polyneuropathy; autonomic neuropathy. Physiopathology intricates probably several mechanisms but metabolic dysregulation and ischemia are mainly involved. Despite numerous controlled clinical trials no treatment has demonstrated efficacy for peripheral neuropathy, excepting the optimization of diabetes equilibrium. However, symptomatic treatments are available, particularly for the management of neuropathic pain.

Acetates↗
PubMed2001

[Infectious myopathies].

Infectious myopathies are rare acquired affections which have, generally, a good prognostic. Many types of viral infections can cause transient inflammatory myopathies. HIV myopathy may be present early in the HIV infection, but more often it is a complication of fully developed AIDS. Influenza virus myositis tend to be more severe in adults than in children. Group B coxsackie virus has been isolated from striated muscle of patients with epidemic myalgia. Parasitic infections of muscle include trichinosis, toxoplasmosis, and cysticercosis. Trichinosis is the most frequent parasitic myositis. The ocular, lingual or pharyngeal weakness and/or hypereosinophilia suggest the diagnosis. Pyomyositis, is a located zone of suppuration of muscle due to staphylococcus in 90% of the cases. It is a common occurrence in tropical climates, but has been recognized increasingly in temperate climates.

Bacterial Infections↗