Dystonia in neurodegeneration with brain iron accumulation: outcome of bilateral pallidal stimulation.

Neurodegeneration with brain iron accumulation encompasses a heterogeneous group of rare neurodegenerative disorders that are characterized by iron accumulation in the brain. Severe generalized dystonia is frequently a prominent symptom and can be very disabling, causing gait impairment, difficulty with speech and swallowing, pain and respiratory distress. Several case reports and one case series have been published concerning therapeutic outcome of pallidal deep brain stimulation in dystonia caused by neurodegeneration with brain iron degeneration, reporting mostly favourable outcomes.

Severe childhood encephalopathy with dyskinesia and prolonged cognitive disturbances: evidence for anti-N-methyl-D-aspartate receptor encephalitis.

Aim: We report four cases of acquired severe encephalopathy with massive hyperkinesia, marked neurological and cognitive regression, sleep disturbance, prolonged mutism, and a remarkably delayed recovery (time to full recovery between 5 and 18mo) with an overall good outcome, and its association with anti-N-methyl-d-aspartate (anti-NMDA) receptor antibodies.

Method: We reviewed the four cases retrospectively and we also reviewed the literature.

Results: Anti-NMDA receptor antibodies (without ovarian teratoma detected so far) were found in the two children tested in this study.

Is benign myoclonic epilepsy of infancy truly idiopathic and generalized?

Benign myoclonic epilepsy of infancy is recognized as a generalized and idiopathic epilepsy by the International League Against Epilepsy. Unprovoked and reflex seizures have been reported in these patients. We describe a child diagnosed with benign myoclonic epilepsy of infancy, whose strictly unilateral and localized reflex myoclonias broaden the clinical spectrum of this idiopathic and generalized epileptic syndrome, and raise interrogations about its underlying pathophysiological mechanisms.

Alexander disease: early presence of cerebral MRI criteria.

Alexander disease is a rare neurodegenerative disorder. Its most frequent subtype, the infantile form, is characterized by an early onset and a rapid neurological deterioration during the first months of life. Since the publication of cerebral radiological criteria in 2001, the disease has often been recognized by magnetic resonance imaging (MRI) findings.

Delayed recognition of Guillain-Barré syndrome in a child: a misleading respiratory distress.

Background: Guillain-Barré syndrome (GBS) is the most common cause of acute flaccid paralysis in childhood. Respiratory symptoms can mask neurologic signs, leading to a delay in diagnosis.

Objectives: We report this case to highlight the diagnostic difficulty in children suffering from GBS who have respiratory involvement as the main clinical findings on presentation.

Evaluation of subjectivity in the interpretation of videonystagmography.

Conclusion: Subjectivity seems to play a definite role in the interpretation of the pendular test, but somewhat less for caloric testing, where pure visual analysis seems to be more reliable. Automated values provided by proof-tested software may be useful.

Objectives: In some centers, the interpretation of videonystagmography is still based on direct visual analysis of recorded tracings.

[Migraine and symptomatic headache in children].

Pediatric migraine differs from adult migraine especially in regards to duration, localisation and quality of pain. A detailed description of the symptoms with a normal neurological examination allows in most cases to rule out secondary headaches without other exams. Many different medications are used for symptomatic or prophylactic treatment with success.

Propentofylline-induced astrocyte modulation leads to alterations in glial glutamate promoter activation following spinal nerve transection.

We have previously shown that the atypical methylxanthine, propentofylline, reduces mechanical allodynia after peripheral nerve transection in a rodent model of neuropathy. In the present study, we sought to determine whether propentofylline-induced glial modulation alters spinal glutamate transporters, glutamate transporter-1 (GLT-1) and glutamate-aspartate transporter (GLAST) in vivo, which may contribute to reduced behavioral hypersensitivity after nerve injury. In order to specifically examine the expression of the spinal glutamate transporters, a novel line of double transgenic GLT-1-enhanced green fluorescent protein (eGFP)/GLAST-Discosoma Red (DsRed) promoter mice was used.

Intraparenchymal spinal cord delivery of adeno-associated virus IGF-1 is protective in the SOD1G93A model of ALS.

The potent neuroprotective activities of neurotrophic factors, including insulin-like growth factor 1 (IGF-1), make them promising candidates for treatment of amyotrophic lateral sclerosis (ALS). In an effort to maximize rate of motor neuron transduction, achieve high levels of spinal IGF-1 and thus enhance therapeutic benefit, we injected an adeno-associated virus 2 (AAV2)-based vector encoding human IGF-1 (CERE-130) into lumbar spinal cord parenchyma of SOD1(G93A) mice. We observed robust and long-term intraspinal IGF-1 expression and partial rescue of lumbar spinal cord motor neurons, as well as sex-specific delayed disease onset, weight loss, decline in hindlimb grip strength and increased animal survival.

Association of multiple vertebral hemangiomas and severe paraparesis in a patient with a PTEN hamartoma tumor syndrome. Case report.

The PTEN hamartoma tumor syndrome, manifestations of which include Cowden disease and Bannayan-Riley-Ruvalcaba syndrome, is caused by various mutations of the PTEN gene located at 10q23. Its major criteria are macrocephaly and a propensity to develop breast and thyroid cancers as well as endometrial carcinoma. Minor diagnostic criteria include hamartomatous intestinal polyps, lipomas, fibrocystic disease of the breasts, and fibromas.

Unilateral focal polymicrogyria in a patient with classical Aarskog-Scott syndrome due to a novel missense mutation in an evolutionary conserved RhoGEF domain of the faciogenital dysplasia gene FGD1.

Faciogenital dysplasia or Aarskog-Scott syndrome (AAS) is an X-linked disorder characterized by craniofacial, skeletal, and urogenital malformations and short stature. Mutations in the only known causative gene FGD1 are found in about one-fifth of the cases with the clinical diagnosis of AAS. FGD1 is a guanine nucleotide exchange factor (GEF) that specifically activates the Rho GTPase Cdc42 via its RhoGEF domain.

Therapeutic immunization with a glatiramer acetate derivative does not alter survival in G93A and G37R SOD1 mouse models of familial ALS.

Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disease. The cause of motor neuron degeneration remains largely unknown, and there is no potent treatment. Overexpression of various human mutant superoxide dismutase-1 (SOD1) genes in mice and rats recapitulates some of the clinical and pathological characteristics of sporadic and familial ALS.

Respiratory impairment in a mouse model of amyotrophic lateral sclerosis.

Amyothrophic lateral sclerosis (ALS) is a progressive, lethal neuromuscular disease that is associated with the degeneration of cortical and spinal motoneurons, leading to atrophy of limb, axial, and respiratory muscles. Patients with ALS invariably develop respiratory muscle weakness and most die from pulmonary complications. Overexpression of superoxide dismutase 1 (SOD1) gene mutations in mice recapitulates several of the clinical and pathological characteristics of ALS and is therefore a valuable tool to study this disease.

[Cochlear implant or regular hearing aid?].

A significant number of deaf patients that have received cochlear implants now achieve higher word recognition scores then those with conventional auditory prostheses. This situation makes the choice of which type of auditory rehabilitation to propose a complex matter in patients with remaining auditory function. Our paper aims at providing some arguments to these new questions by presenting the clinical experience and practice of the Centre romand d'implants cochléaires.

MECP2 mutant allele in a boy with Rett syndrome and his unaffected heterozygous mother.

Rett syndrome is a severe neurodevelopmental disorder affecting principally females and characterized by a normal postnatal development followed by stagnation and regression of acquired skills. We report a 4-year-old boy with a Rett syndrome phenotype and his unaffected mother both carrying a 44 bp truncating deletion mutation (c.1158del44 or p.

Neuropsychological problems after paediatric stroke: two year follow-up of Swiss children.

Aim: The aim of this study was to obtain information about neurological and cognitive outcome for a population-based group of children after paediatric ischaemic stroke.

Methods: Data from the Swiss neuropaediatric stroke registry (SNPSR), from 1.1.

Anesthesia management in a young child with aromatic l-amino acid decarboxylase deficiency.

Aromatic l-amino acid decarboxylase (AADC) deficiency is characterized by an almost complete absence of sympathetic autoregulation, because of very low levels of circulating catecholamines. Here, we report the successful management of four consecutive anesthesia procedures in a young child presenting with AADC deficiency. Our experience suggests that, with appropriate anticipation of the potential autonomic disturbances, anesthesia, at least for minor surgical and diagnostic procedures, can be conducted safely in patients with AADC deficiency.

Degeneration of respiratory motor neurons in the SOD1 G93A transgenic rat model of ALS.

The transgenic mutant superoxide dismutase (SOD1) mice and rats have been important tools in attempting to understand motor neuron pathology and degeneration but the mechanism behind death in this model has not been studied. We studied the electrophysiologic and pathologic properties of the cervical motor neurons and phrenic nerves in mutant SOD1 rats and demonstrated motor neuron loss, progressive reduction of phrenic nerve compound muscle action potential amplitudes, phrenic nerve fiber loss, and diaphragm atrophy suggesting respiratory insufficiency as a significant contributing factor leading to SOD1 rat death. Unlike previous observations suggesting that a dying-back process may be occurring in the mouse model of the disease, we did not observe differences between proximal and distal axon loss in phrenic nerves of SOD1 rats.

Projections from the spinal trigeminal nucleus to the cochlear nucleus in the rat.

The integration of information across sensory modalities enables sound to be processed in the context of position, movement, and object identity. Inputs to the granule cell domain (GCD) of the cochlear nucleus have been shown to arise from somatosensory brain stem structures, but the nature of the projection from the spinal trigeminal nucleus is unknown. In the present study, we labeled spinal trigeminal neurons projecting to the cochlear nucleus using the retrograde tracer, Fast Blue, and mapped their distribution.

Beta-lactam antibiotics offer neuroprotection by increasing glutamate transporter expression.

Glutamate is the principal excitatory neurotransmitter in the nervous system. Inactivation of synaptic glutamate is handled by the glutamate transporter GLT1 (also known as EAAT2; refs 1, 2), the physiologically dominant astroglial protein. In spite of its critical importance in normal and abnormal synaptic activity, no practical pharmaceutical can positively modulate this protein.

Neural stem cells protect against glutamate-induced excitotoxicity and promote survival of injured motor neurons through the secretion of neurotrophic factors.

Besides their capacity to give rise to neurons and/or glia, neural stem cells (NSCs) appear to inherently secrete neurotrophic factors beneficial to injured neurons. To test this potential, we have implanted NSCs onto or adjacent to spinal cord cultures. When NSCs were placed adjacent to the spinal cord sections, motor neuron axons grew toward the NSCs.

An animal model for cochlear implants.

Objective: To test the feasibility of using the deaf white cat model of early-onset deafness. We studied the neuronal effects of prosthetic intervention with a clinical, "off-the-shelf" multichannel cochlear implant.

Methods: We placed cochlear implants in 5 deaf white kittens at age 12 and 24 weeks.

[How should a muscular disease be studied?].

Muscle diseases are an expanding field, mainly due to the progress in genetics and biochemistry. Evaluation starts with a thorough history of the patient's symptoms and signs. The leading clinical manifestations are weakness, atrophy, myalgia, fatigue, more rarely myotonia and in the child hypotonia or walking difficulty.