High doses of biotin in chronic progressive multiple sclerosis: a pilot study.

Background: No drug has been found to have any impact on progressive multiple sclerosis (MS). Biotin is a vitamin acting as a coenzyme for carboxylases involved in key steps of energy metabolism and fatty acids synthesis. Among others, biotin activates acetylCoA carboxylase, a potentially rate-limiting enzyme in myelin synthesis.

POLG mutations associated with remitting/relapsing neurological events.

Recent experimental data underline the relationship between mitochondria and immune function. Clinical reports of patients presenting with mitochondrial dysfunction associated with dysimmune responses in the central nervous system reinforce this new concept. We describe the first case of a woman presenting with symptoms related to a novel compound heterozygous mutation of the mitochondrial polymerase γ (POLG) gene, associated with neurological events suggestive of a demyelinating process.

Portosystemic shunts: an underdiagnosed but treatable cause of neurological and psychiatric disorders.

Portosystemic shunts (PSS) remain an unrecognized cause of neurological or psychiatric disorders. Here we report 5 patients with neuropsychiatric presentations of PSS. Main presentations encompassed progressive Parkinsonism, organic psychosis, recurrent coma, recurrent delusion, cognitive decline and posterior cortical atrophy.

Natalizumab treatment for multiple sclerosis: updated recommendations for patient selection and monitoring.

Natalizumab, a highly specific α4-integrin antagonist, is approved for treatment of patients with active relapsing-remitting multiple sclerosis (RRMS). It is generally recommended for individuals who have not responded to a currently available first-line disease-modifying therapy or who have very active disease. The expected benefits of natalizumab treatment have to be weighed against risks, especially the rare but serious adverse event of progressive multifocal leukoencephalopathy.

Unilateral thalamic deep brain stimulation for disabling kinetic tremor in multiple sclerosis.

Background: Surgical options of multiple sclerosis (MS) tremor treatment are limited and narrowed to thalamotomy or deep brain stimulation of the thalamic nucleus ventralis intermedius. Lack of qualification protocol frequently results in poor outcome.

Objective: To determine prospectively the efficacy and safety of unilateral ventralis intermedius deep brain stimulation as a tool to control disabling kinetic arm tremor related to MS.

Guillain-Barre syndrome, influenzalike illnesses, and influenza vaccination during seasons with and without circulating A/H1N1 viruses.

The role of influenzalike illnesses and influenza vaccination in the development of Guillain-Barré syndrome (GBS), particularly the role of A/H1N1 epidemics and A/H1N1 vaccination, is debated. Data on all incident GBS cases meeting the Brighton Collaboration criteria that were diagnosed at 25 neurology centers in France were prospectively collected between March 2007 and June 2010, covering 3 influenzavirus seasons, including the 2009-2010 A/H1N1 outbreak. A total of 457 general practitioners provided a registry of patients from which 1,080 controls were matched by age, gender, index date (calendar month), and region to 145 cases.

Spinal cord sarcoidosis: clinical and laboratory profile and outcome of 31 patients in a case-control study.

Sarcoidosis is a granulomatous disorder of unknown cause that affects the spinal cord in fewer than 1% of patients who suffer from it. We conducted a retrospective case-control study of 31 patients with spinal cord sarcoidosis and compared them to 30 patients with myelopathies of other causes to analyze their clinical, laboratory, and magnetic resonance imaging (MRI) profiles and to assess their long-term prognoses. Thirty-one patients presented with clinical signs of myelopathy and were diagnosed with sarcoidosis.

Cerebrotendinous xanthomatosis presenting with severe externalized disorder: improvement after one year of treatment with chenodeoxycholic Acid.

Cerebrotendinous xanthomatosis (CTX) is a rare inborn disorder of sterol storage with autosomal recessive inheritance and a variable clinical presentation. We describe two siblings with an early psychiatric presentation of CTX-associated attention-deficit/hyperactivity disorder and oppositional defiant disorder, also associated with a mild intellectual disability and major behavioral impairments. In both cases, treatment with chenodeoxycholic acid improved externalized symptoms and a partial recovery of cognitive impairments was observed.

[Current treatment for multiple sclerosis].

Several drugs are now available to treat multiple sclerosis. MS treatment has included immunomodulatory agents for 15 years; monoclonal antibody therapies have recently been added. IFN beta and Glatiramer acetate are effective in reducing relapses and lesions visible on magnetic resonance imaging (MRI) in patients with MS.

Creutzfeldt-Jakob disease in a patient treated by etanercept for rheumatoid arthritis (RA): just a coincidence?

We describe a patient in whom sporadic Creutzfeldt-Jakob disease (sCJD) occurred one year after the onset of etanercept therapy for rheumatoid arthritis (RA). This association could be a chance occurrence. However, TNF-alpha has been implicated in the pathogenesis of neurodegeneration in sCJD and etanercept might worsen the disease.

Biotin-responsive basal ganglia disease in ethnic Europeans with novel SLC19A3 mutations.

Objective: To report the first 2 European cases of biotin-responsive basal ganglia disease and novel SLC19A3 mutations.

Design: Case reports.

Setting: University hospital.

Rapid onset frontal leukodystrophy with decreased diffusion coefficient and neuroaxonal spheroids.

Adult leukodystrophies with neuroaxonal spheroids (LNS) constitute a heterogeneous group of genetic diseases. Herein, we report on two unrelated patients with LNS characterized by rapid onset, predominant involvement of the frontal white matter, and areas of decreased apparent diffusion coefficient on diffusion-weighted imaging. We found similar cases in the literature and propose that they represent a distinct entity within the group of LNS.

Intravenous immunoglobulins-induced eczematous eruption: a long-term follow-up study.

Background: High-dose intravenous immunoglobulins have emerged as an important therapy for various diseases. Vesicular eczematous eruption has recently been described as an intravenous immunoglobulins adverse effect. Little is known about patients' characteristics, administration regimens and long-term outcomes.

Quantification of neutralizing antibodies to human type I interferons using division-arrested frozen cells carrying an interferon-regulated reporter-gene.

Development of neutralizing antibodies (NAbs) to interferons (IFNs) can reduce the clinical response to IFN therapy. As current cell-based assays for quantifying NAbs have limitations, a highly sensitive and reproducible assay was developed, using division-arrested frozen human U937 cells transfected with the luciferase reportergene controlled by an IFN-responsive chimeric promoter, which allows IFN activity to be determined with precision within hours. Assay-ready PIL5 cells can be stored frozen for >3 years without loss of IFN sensitivity or the need for cell propagation.

IL2RA and IL7RA genes confer susceptibility for multiple sclerosis in two independent European populations.

Multiple sclerosis (MS) is the most common chronic inflammatory neurologic disorder diagnosed in young adults and, due to its chronic course, is responsible for a substantial economic burden. MS is considered to be a multifactorial disease in which both genetic and environmental factors intervene. The well-established human leukocyte antigen (HLA) association does not completely explain the genetic impact on disease susceptibility.

Leukoencephalopathies associated with inborn errors of metabolism in adults.

The discovery of a leukoencephalopathy is a frequent situation in neurological practice and the diagnostic approach is often difficult given the numerous possible aetiologies, which include multiple acquired causes and genetic diseases including inborn errors of metabolism (IEMs). It is now clear that IEMs can have their clinical onset from early infancy until late adulthood. These diseases are particularly important to recognize because specific treatments often exist.

[Myelin and nuclear magnetic resonance].

MRI is one of the most important tools for the investigation of white matter diseases of the central nervous system. Other techniques based on the magnetic resonance phenomena (magnetization transfer imaging, diffusion imaging, magnetic resonance spectroscopy) have joined MRI to better caracterize certain diseases, understand their pathophysiology and follow their evolution.

[Treatable hereditary neuro-metabolic diseases].

Hereditary metabolic diseases may appear during adolescence or young adulthood, revealed by an apparently unexplained neurological or psychiatric disorder. Certain metabolic diseases respond to specific treatments and should be identified early, particularly in emergency situations where rapid introduction of a treatment can avoid fatal outcome or irreversible neurological damage. The main diseases leading to an acute neurological syndrome in the adult are urea cycle disorders, homocysteine metabolisms disorders and porphyria.

Eating disorder and metabolism in narcoleptic patients.

Study Objective: To evaluate eating behavior and energy balance as a cause of increased body mass index (BMI) in narcolepsy.

Design: Case controlled pilot study.

Settings: University hospital.

Epilepsy and inborn errors of metabolism in adults: a diagnostic approach.

Inborn errors of metabolism (IEMs) represent poorly known causes of epilepsy in adulthood. Although rare, these are important to recognize for several reasons: some IEMs respond to specific treatments, some antiepileptic drugs interfering with metabolic pathways may worsen the clinical condition, and specific genetic counselling can be provided. We review IEMs potentially revealed by epilepsy that can be encountered in an adult neurology department.

Hereditary spastic paraparesis in adults associated with inborn errors of metabolism: a diagnostic approach.

Spastic paraparesis is a general term describing progressive stiffness and weakness in the lower limbs caused by pyramidal tract lesions. This clinical situation is frequently encountered in adult neurology. The diagnostic survey is usually limited to searching for acquired causes (spinal cord compression, inflammatory, metabolic, infectious diseases) and the so-called 'hereditary spastic paraparesis'.

Peripheral neuropathy and inborn errors of metabolism in adults.

Although they are classically viewed as paediatric diseases, it is now recognized that inborn errors of metabolism (IEMs) can present at any age from childhood to adulthood. IEMs can involve the peripheral nervous system, mostly as part of a more diffuse neurological or systemic clinical picture. However, in some cases, the neuropathy can be the unique initial sign.

Psychiatric manifestations revealing inborn errors of metabolism in adolescents and adults.

Inborn errors of metabolism (IEMs) may present in adolescence or adulthood as a psychiatric disorder. In some instances, an IEM is suspected because of informative family history or because psychiatric symptoms form part of a more diffuse clinical picture with systemic, cognitive or motor neurological signs. However, in some cases, psychiatric signs may be apparently isolated.