GBA2 Mutations Cause a Marinesco-Sjögren-Like Syndrome: Genetic and Biochemical Studies.

Background: With the advent new sequencing technologies, we now have the tools to understand the phenotypic diversity and the common occurrence of phenocopies. We used these techniques to investigate two Norwegian families with an autosomal recessive cerebellar ataxia with cataracts and mental retardation.

Methods And Results: Single nucleotide polymorphism (SNP) chip analysis followed by Exome sequencing identified a 2 bp homozygous deletion in GBA2 in both families, c.

Preclinical disease activity in multiple sclerosis: A prospective study of cognitive performance prior to first symptom.

Objective: To prospectively investigate potential signs of preclinical multiple sclerosis (MS) activity and when they are present prior to first symptom using data from a historical cohort.

Methods: We linked the cognitive performance of all Norwegian men born 1950-1995 who underwent conscription examination at age 18 to 19 years to the Norwegian MS registry to identify those later developing MS, and randomly selected controls frequency-matched on year of birth from the Norwegian Conscript Service database. In this nested case-control study, cognitive test scores were available for 924 male cases and 19,530 male controls.

Defective PITRM1 mitochondrial peptidase is associated with Aβ amyloidotic neurodegeneration.

Mitochondrial dysfunction and altered proteostasis are central features of neurodegenerative diseases. The pitrilysin metallopeptidase 1 (PITRM1) is a mitochondrial matrix enzyme, which digests oligopeptides, including the mitochondrial targeting sequences that are cleaved from proteins imported across the inner mitochondrial membrane and the mitochondrial fraction of amyloid beta (Aβ). We identified two siblings carrying a homozygous PITRM1 missense mutation (c.

Employment among patients with multiple sclerosis-a population study.

Objective: To investigate demographic and clinical factors associated with employment in MS.

Methods: The study included 213 (89.9%) of all MS patients in Sogn and Fjordane County, Western Norway at December 31st 2010.

Variants of anterior segment dysgenesis and cerebral involvement in a large family with a novel COL4A1 mutation.

Purpose: To investigate the diverse ocular manifestations and identify the causative mutation in a large family with autosomal dominant anterior segment dysgenesis accompanied in some individuals by cerebral vascular disease.

Design: Retrospective observational case series and laboratory investigation.

Methods: Forty-five family members from 4 generations underwent ophthalmic examination.

Risk of MS is not associated with exposure to crude oil, but increases with low level of education.

Background: Offshore workers in the Norwegian upstream petroleum industry are exposed to a number of chemicals such as organic solvents, mineral oils and other hydrocarbons, possibly contributing to an increased risk of multiple sclerosis (MS).

Objective: To estimate the risk of MS in this population compared with the general working population in Norway, adjusting for education.

Methods: Using the Norwegian Registry of Employers and Employees we included all 27,900 offshore workers registered from 1981 to 2003 and 366,805 referents from the general working population matched by gender, age and community of residence.

The spectrum of clinical disease caused by the A467T and W748S POLG mutations: a study of 26 cases.

We studied 26 patients belonging to 20 families with a disorder caused by mutations in the POLG gene. The patients were homozygous for 1399 G/A or 2243 G/C (giving the amino acid changes A467T and W748S, respectively) or compound heterozygotes for these two mutations. Irrespective of genotype, the patients exhibited a progressive neurological disorder usually starting in their teens and characterized by epilepsy, headache, ataxia, neuropathy, myoclonus and late onset ophthalmoplegia.

[Status epilepticus].

The review defines status epilepticus and discusses treatment options for convulsive and nonconvulsive status epilepticus. The drug of choice in Norway is diazepam intravenously (0.25 mg/kg), followed by phosphenytoin or sodium valproate intravenously and barbiturate narcosis.