Distal myasthenia gravis.

Myasthenia gravis (MG) characteristically involves ocular; bulbar, and proximal limb muscles. MG with predominant distal limb involvement is uncommon. We present a case of MG with distal, asymmetrical, upper limb involvement, seven years after disease onset.

Warmer weather linked to tick attack and emergence of severe rickettsioses.

The impact of climate on the vector behaviour of the worldwide dog tick Rhipicephalus sanguineus is a cause of concern. This tick is a vector for life-threatening organisms including Rickettsia rickettsii, the agent of Rocky Mountain spotted fever, R. conorii, the agent of Mediterranean spotted fever, and the ubiquitous emerging pathogen R.

Beta-mannosidosis: a new cause of spinocerebellar ataxia.

Beta-mannosidosis (OMIM 248510) is an inborn lysosomal storage disorder caused by deficiency of beta-mannosidase activity. This enzyme is encoded by a single gene (MANBA), located on chromosome 4q22-25. This autosomal recessive disorder is characterized by a wide range of symptoms including mental retardation, behavioural problems, hearing loss, recurrent respiratory infections, angiokeratoma, facial dysmorphism, skeletal deformation, seizures, hypotonia, demyelinating polyneuropathy, and hepatosplenomegaly.

Optical coherence tomography in neuromyelitis optica.

Background: Neuromyelitis optica (NMO) is an inflammatory disease with combined features of optic neuritis and myelitis. This pathologic entity may induce severe disability, including visual loss and paraplegia. Other than clinical follow-up, there is no marker for severity of the disease.

Genes involved in leukodystrophies: a glance at glial functions.

Leukodystrophies are a group of orphan genetic diseases that primarily affect the white matter (WM) of the brain. The diagnosis and classification of these pathologies have been improved in the past decade thanks to the development of brain MRI, which allows the diagnosis of WM abnormalities in vivo and the continuous follow-up of patients. This article reviews recent advances made in leukodystrophy research by identifying causative genes.

Composite cerebellar functional severity score: validation of a quantitative score of cerebellar impairment.

Reliable and easy to perform functional scales are a prerequisite for future therapeutic trials in cerebellar ataxias. In order to assess the specificity of quantitative functional tests of cerebellar dysfunction, we investigated 123 controls, 141 patients with an autosomal dominant cerebellar ataxia (ADCA) and 53 patients with autosomal dominant spastic paraplegia (ADSP). We evaluated four different functional tests (nine-hole pegboard, click, tapping and writing tests), in correlation with the scale for the assessment and rating of cerebellar ataxia (SARA), the scale of functional disability on daily activities (part IV of the Huntington disease rating scale), depression (the Public Health Questionnaire PHQ-9) and the EQ-5D visual analogue scale for self-evaluation of health status.

Outcome in 53 patients with spinal cord cavernomas.

Background: Prevalence of cerebral cavernomas in the general population is close to 0.5%. In contrast, SCCs are rare.

Cognitive functions in neuromyelitis optica.

Background: Neuromyelitis optica (NMO) is characterized by optic neuritis and longitudinally extensive acute transverse myelitis. The brain is generally considered healthy in NMO, though very recent studies have demonstrated that magnetic resonance imaging abnormalities may be observed in various brain regions of NMO patients. To date, cognitive functions have never been investigated in NMO.

OPA1 mutations induce mitochondrial DNA instability and optic atrophy 'plus' phenotypes.

Mutations in OPA1, a dynamin-related GTPase involved in mitochondrial fusion, cristae organization and control of apoptosis, have been linked to non-syndromic optic neuropathy transmitted as an autosomal-dominant trait (DOA). We here report on eight patients from six independent families showing that mutations in the OPA1 gene can also be responsible for a syndromic form of DOA associated with sensorineural deafness, ataxia, axonal sensory-motor polyneuropathy, chronic progressive external ophthalmoplegia and mitochondrial myopathy with cytochrome c oxidase negative and Ragged Red Fibres. Most remarkably, we demonstrate that these patients all harboured multiple deletions of mitochondrial DNA (mtDNA) in their skeletal muscle, thus revealing an unrecognized role of the OPA1 protein in mtDNA stability.

Acute fulminant demyelinating disease: a descriptive study of 60 patients.

Background: Acute demyelinating encephalomyelitis (ADEM) is characterized by a severe inflammatory attack, frequently secondary to infectious events or vaccinations. To date, no clear criteria exist for ADEM, and the risk of subsequent evolution to multiple sclerosis (MS) remains unknown.

Objective: To evaluate the risk of evolution to MS after a first episode of ADEM.

Spontaneous complete remission of a non-small cell lung cancer associated with anti-Hu antibody syndrome.

Anti-Hu antibodies are directed against lung cancer cell antigens. The anti-tumor effect of anti-Hu antibodies has been suggested by several studies demonstrating that patients presenting with anti-Hu antibodies have a longer survival. In this case report, we suggest that the immunology of HuAb paraneplastic syndrome by itself could induce tumor response.

Genetics of cavernous angiomas.

Cerebral cavernous malformations (CCM) are vascular malformations that can occur as a sporadic or a familial autosomal dominant disorder. Clinical and cerebral MRI data on large series of patients with a genetic form of the disease are now available. In addition, three CCM genes have been identified: CCM1/KRIT1, CCM2/MGC4607, and CCM3/PDCD10.

[Myasthenia gravis in the elderly: diagnosis, comorbidity and course: 45 cases].

Objective: Analyze the clinical presentation, laboratory indicators, and outcome of patients with late-onset myasthenia gravis (after 60 years).

Method: This retrospective cohort design with prospective follow-up included 45 patients with late-onset myasthenia gravis diagnosed in hospitals in Avignon, Montpellier, and Nimes between 1993 and 2000. Prospective data collection of their subsequent course took place in 2001.

Genotype-phenotype correlations in cerebral cavernous malformations patients.

Objective: To compare clinical features of CCM1, CCM2, and CCM3 mutation carriers.

Methods: A detailed clinical and molecular analysis of 163 consecutive cerebral cavernous malformation (CCM) families was performed.

Results: A deleterious mutation was detected in 128 probands.

Frequency of retinal cavernomas in 60 patients with familial cerebral cavernomas: a clinical and genetic study.

Objectives: To define the frequency of retinal lesions in a large panel of patients with familial cerebral cavernomas and to screen the cerebral cavernous malformation genes in patients with cerebral and retinal lesions.

Methods: Fundus examination was proposed to each of the index patients of 70 families with cerebral cavernous malformation who have been included in a prospective clinical and neuroradiological follow-up. All of the coding exons of the KRIT1, MGC4607, and PDCD10 genes were screened as previously described.

Dominant form of vanishing white matter-like leukoencephalopathy.

Leukoencephalopathy with vanishing white matter syndrome (childhood ataxia with central nervous system hypomyelination/vanishing white matter disease) is an autosomal recessive disorder characterized by the occurrence of acute episodes of deterioration after minor head trauma or infection, and symmetrical demyelination on magnetic resonance with cavitation aspects. Mutations in each of the five subunits of eIF2B have been identified. We report in an affected man and his mother an adult-onset form of childhood ataxia with central nervous system hypomyelination/vanishing white matter disease-like disorder with no mutations in the EIF2B genes and normal guanine nucleotide exchange factor eIF2B activity, suggesting a new dominant inheritance of this syndrome that may involve other genes.