Psychiatric Presentation of Frontotemporal Dementia Associated with Inclusion Body Myopathy due to the VCP Mutation (R155H) in a French Family.

Introduction: Inclusion body myopathy with Paget's disease of the bone and frontotemporal dementia (IBMPFD) is a rare late-onset autosomal dominant disorder due to a mutation of the valosin-containing protein (VCP) gene.

Case Report: We report the case of a patient who developed progressive weakness of the limbs in his fifties, until he was confined to a wheelchair. At that time, he developed acute behavioural changes including irritability, severe anxiety and major depression, which led to him being hospitalised in a psychiatric hospital.

Homozygous SMN1 exons 1-6 deletion: pitfalls in genetic counseling and general recommendations for spinal muscular atrophy molecular diagnosis.

We report on a rare homozygous intragenic deletion encompassing exons 1-6 of the SMN1 gene in a patient with spinal muscular atrophy (SMA) born into a consanguineous family. This exceptional configuration induced misinterpretation of the molecular defect involved in this patient, who was first reported as having a classic SMN1 exon 7 deletion. This case points out the possible pitfalls in molecular diagnosis of SMA in affected patients and their relatives: exploration of the SMN1 exon 7 (c.

A major determinant for binding and aminoacylation of tRNA(Ala) in cytoplasmic Alanyl-tRNA synthetase is mutated in dominant axonal Charcot-Marie-Tooth disease.

Charcot-Marie-Tooth disease (CMT) is the most common cause of inherited peripheral neuropathy, with an estimated frequency of 1/2500. We studied a large family with 17 patients affected by the axonal form of CMT (CMT2). Analysis of the 15 genes or loci known to date was negative.

[Isolated mandibular B-cell lymphoma revealed by inferior alveolar nerve anesthesia].

Introduction: Mandibular lymphomas are rare and most often revealed by painless swelling. The authors report the case of a mandibular lymphoma revealed by an isolated lesion of the inferior alveolar nerve evolving for eight months.

Case Report: A 41-year-old male patient was followed for left mandibular pain, with progressive hypoesthesia of the left inferior alveolar nerve.

Spatial relationships between lingual nerve and mandibular ramus: original study method, clinical and educational applications.

Lingual nerve damage complicating oral surgery would sometimes require electrographic exploration. Nevertheless, direct recording of conduction in lingual nerve requires its puncture at the foramen ovale. This method is too dangerous to be practiced routinely in these diagnostic indications.

[Leptomeningeal dissemination after ethmoidal sinus adenocarcinoma surgery: a rare complication].

Introduction: Although rare, adenocarcinoma is the most frequent neoplasm of the ethmoid sinus and must be regarded as an occupational disease secondary to chronic wood dust exposure. Few cases with neurological metastasis have been reported.

Case Report: We report the cases of two patients who developed a multiple cranial nerve disorder for the first case and a cauda equina syndrome for the second, after ethmoid adenocarcinoma surgery.

[Post-traumatic tarsal tunnel syndrome: interest of muscular MRI].

Introduction: Tarsal tunnel syndrome is a compressive neuropathy of the tibial nerve with multiple causes. This syndrome is difficult to diagnose and can be missed because of its subjective symptomatology.

Observation: In our patient, suspected post-traumatic tarsal tunnel syndrome was confirmed at MRI.

[Botulism has not disappeared].

Introduction: Botulism is a potentially fatal infectious disease induced by a neurotoxin secreted by Clostridium botulinum, a sporulated species of obligate anaerobic bacteria. This neurotoxin inhibits the normal release of acetylcholine in the synaptic cleft, inducing presynaptic neuromuscular blockade. The diagnosis is often difficult because of the range and the lack of specificity of the symptoms.

Severe neonatal non-dystrophic myotonia secondary to a novel mutation of the voltage-gated sodium channel (SCN4A) gene.

We report on a patient with a severe, rare neonatal form of non-dystrophic myotonia. The patient presented with facial dysmorphism, muscle hypertrophy, severe constipation, psychomotor delay, and frequent cold-induced episodes of myotonia and muscle weakness leading to severe hypoxia and loss of consciousness. Muscle biopsy was non-specific and electromyography revealed intense generalized myotonia.

[Iris heterochromia in acquired Horner's syndrome].

Horner's syndrome (HS) is related to an interruption of the oculosympathetic nerve pathway. The classic clinical findings associated with this condition are ptosis, miosis, and enophthalmos. Heterochromia is typically described in congenital HS, but it is an uncommon finding in acquired HS.

[Finnish amyloid polyneuropathy in a French patient].

Introduction: Finnish amyloid variety is a rare familial amiloidosis polyneuropathy essentially observed in Finland. It concerns about six hundred people in the world in which five hundred reside in Finland.

Observation: We report a case of a 58-year-old French woman with a 10-year history of lattice cornea dystrophy.

[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.

Clinicopathological aspects of the neuropathy of neurogastrointestinal encephalomyopathy (MNGIE) in four patients including two with a Charcot-Marie-Tooth presentation.

We report on four patients with severe polyneuropathy associated with intestinal pseudoobstruction (MNGIE). Three patients presented characteristic supranuclear ophthalmoplegia, and hyperdense signals on T2 weighted cerebral MRI and dystrophic mitochondria in Schwann cells and in endothelial cells in nerve biopsy specimens. Two of these patients had a Charcot-Marie-Tooth (CMT) presentation.

[Neuropathy versus neuronopathy: distinctive features].

Neuropathy may be difficult to distinguish from neuronopathy, on both motor and sensory sides. A number of disorders that present with characteristic electro-clinical features are readily recognized. Except for those, distinction of the lesions that concern the peripheral nerve cell or the axon may require support of clinical, electrophysiological and other ancillary tests.

[Strategies to interpret late waves in routine neurophysiology].

A number of late waves other than F and H spinal waves are commonly observed during motor nerve conduction studies. Simple criteria are available that allow an understanding of their origin and significance. A late wave can be characterized by 1) its origin, proximal or distal to the stimulator, 2) its position with reference to the spinal waves, 3) its latency, stable or not, 4) its appearance in response to all (constant) or not to all stimuli (inconstant), 5) its persistence or not to intense stimuli, 6) its relative threshold, 7) its behavior to paired stimuli (namely if it is or not evoked twice by paired stimuli).

Exercise test in muscle channelopathies and other muscle disorders.

We studied the percentage change in compound muscle action potential (CMAP) amplitude and area during and after a 5-min maximal contraction of the muscle. The exercise test (ET) was performed on 64 patients with different muscle disorders and on 46 normal controls. The range of normal ET values was defined as the mean + 2 SD of the control values.

High frequency discharge of a fraction (f) of motor unit action potential.

Two repetitive discharges, firing at 105 and 180 Hz, were evoked in muscles with chronic denervation. They were delayed following a motor unit action potential (M), and their maximum duration was 800 and 50 ms, respectively. The potential of both high frequency discharges was of low amplitude and short duration.

Cancellation of single F wave by double stimulation in case of chronic denervation.

Single F waves evoked by stimulation with above threshold intensity are cancelled by a second shock, as was previously demonstrated with maximal or sub-maximal intensity. Double stimulation of any intensity thus makes it possible to detect a possible reflex component in the spinal response, by elimination of the F wave. As an H or a heteronymous H reflex may be a sign of a disordered central motor system state, this fast method has a direct clinical utility.

[Value of gadolinium magnetic resonance imaging of the lumbosacral roots in acute polyradiculoneuritis].

Four patients with acute inflammatory polyradiculoneuropathy were evaluated with MRI. In 3 of 4 cases, gadolinium enhancement was observed in the nerve roots of cauda equina, on frontal and horizontal slices. This enhancement was correlated with the severity of the clinical picture and the cerebrospinal-fluid inflammatory protein concentration and supports the inflammatory nature of this forms of acute polyradiculoneuropathy.

Early seizures after acute stroke: a study of 1,640 cases.

We evaluated prospectively the occurrence of seizures within 15 days of a first stroke or transient ischemic episode in 1,640 patients to study relation between seizures and type of stroke. Seizures occurred in 90 patients (5.4%), including 36 (4.

[Gyratory epileptic seizures. Radioclinical correlations].

The authors report 3 cases of gyratory seizures whose epileptic nature was demonstrated on the following features. They appeared with a loss of consciousness. In 2 cases, they ended with a tonic-clonic generalized fit and in the 3 cases, they were mixed with other generalized seizures.

[Investigation via electroencephalogram with sphenoidal electrodes of a case of reading epilepsy: role of the temporal lobe in the emotional evocation of seizures].

Reading epilepsy in a 20-year-old male. Electroencephalographic study with sphenoidal electrodes localized the onset of critical spikes in the temporal areas (especially the left). The frequency and diffusion of critical spikes were increased when material read had an emotional content.