Journal of Neurology

http://link.springer.com/journal/415

List of Papers (Total 658)

ABCD3-I score and the risk of early or 3-month stroke recurrence in tissue- and time-based definitions of TIA and minor stroke

Changing definition of TIA from time to a tissue basis questions the validity of the well-established ABCD3-I risk score for recurrent ischemic cerebrovascular events. We analyzed patients with ischemic stroke with mild neurological symptoms arriving < 24 h after symptom onset in a phase where it is unclear, if the event turns out to be a TIA or minor stroke, in the prospective...

Mal de Debarquement Syndrome: a survey on subtypes, misdiagnoses, onset and associated psychological features

Introduction Mal de Debarquement Syndrome (MdDS) is a neurological condition typically characterized by a sensation of motion, that persists longer than a month following exposure to passive motion (e.g., cruise, flight, etc.). The most common form of MdDS is motion triggered (MT). However, recently it has been acknowledged that some patients develop typical MdDS symptoms without...

Risk factors in Swedish young men for amyotrophic lateral sclerosis in adulthood

Recent research suggests that the incidence of amyotrophic lateral sclerosis (ALS) may be on the rise. Since ALS becomes predominant in later life, most studies on causal factors are conducted in middle-aged or older populations where potentially important influences from early life can usually not be adequately captured. We aimed to investigate predictors in young Swedish men...

INTEREST IN CD2, a global patient-centred study of long-term cervical dystonia treatment with botulinum toxin

Background Longitudinal cohort studies provide important information about the clinical effectiveness of an intervention in the routine clinical setting, and are an opportunity to understand how a population presents for treatment and is managed. Methods INTEREST IN CD2 (NCT01753349) is a prospective, international, 3-year, longitudinal, observational study following the course...

Mutations outside the N-terminal part of RBCK1 may cause polyglucosan body myopathy with immunological dysfunction: expanding the genotype–phenotype spectrum

A subset of patients with polyglucosan body myopathy was found to have underlying mutations in the RBCK1 gene. Affected patients may display diverse symptoms ranging from skeletal muscular weakness, cardiomyopathy to chronic autoinflammation and immunodeficiency. It was suggested that the exact localization of the mutation within the gene might be responsible for the specific...

The BRAIN test: a keyboard-tapping test to assess disability and clinical features of multiple sclerosis

Background The BRadykinesia Akinesia INcordination (BRAIN) test is an online keyboard-tapping test previously validated as a sensitive tool for detecting signs of Parkinson’s disease. Objectives To determine whether the BRAIN test can measure disability in MS and identify the presence of pyramidal or cerebellar dysfunction. Methods Kinesia scores (KS, number of key taps in 30 s...

Congenital myasthenic syndrome with episodic apnoea: clinical, neurophysiological and genetic features in the long-term follow-up of 19 patients

Background Congenital myasthenic syndrome with episodic apnoea (CMS-EA) is a rare but potentially treatable cause of apparent life-threatening events in infancy. The underlying mechanisms for sudden and recurrent episodes of respiratory arrest in these patients are unclear. Whilst CMS-EA is most commonly caused by mutations in CHAT, the list of associated genotypes is expanding...

Long-term effects of complications and vascular comorbidity in idiopathic normal pressure hydrocephalus: a quality registry study

Background There is little knowledge about the factors influencing the long-term outcome after surgery for idiopathic normal pressure hydrocephalus (iNPH). Objective To evaluate the effects of reoperation due to complications and of vascular comorbidity (hypertension, diabetes, stroke and heart disease) on the outcome in iNPH patients, 2–6 years after shunt surgery. Methods We...

A randomized double-blind, placebo-controlled, cross-over trial (Vestparoxy) of the treatment of vestibular paroxysmia with oxcarbazepine

Objective Vestibular paroxysmia (VP) is characterized by short, often oligosymptomatic attacks of vertigo which occur spontaneously or are sometimes provoked by turning the head. Despite the description of the disease almost 40 years ago (first termed “disabling positional vertigo”), no controlled treatment trial has been published to date. The Vestparoxy trial was designed as a...

Pompe disease in Austria: clinical, genetic and epidemiological aspects

In this study, we performed a survey of infantile and late-onset Pompe disease (IOPD and LOPD) in Austria. Paediatric and neuromuscular centres were contacted to provide a set of anonymized clinical and genetic data of patients with IOPD and LOPD. The number of patients receiving enzyme replacement therapy (ERT) was obtained from the pharmaceutical company providing alglucosidase...

Efficacy and safety of rotigotine in elderly patients with Parkinson’s disease in comparison with the non-elderly: a post hoc analysis of randomized, double-blind, placebo-controlled trials

Rotigotine—a non-ergot dopamine agonist—has two advantages; it can stimulate all dopamine receptors (D1–D5) like innate dopamine, and its transdermal administration provides continuous dopaminergic stimulation. The age of the patient impacts the effect and adverse events of anti-parkinsonian treatment. We conducted a post hoc analysis on three randomized, double-blind, placebo...

Changes in disability in people with multiple sclerosis: a 10-year prospective study

Background Little is known about the long-term course of disability in relation with disease severity in people with multiple sclerosis (PwMS). Objective To explore changes in a broad spectrum of disability over 10 years in relation with disease severity in PwMS. Methods We conducted a longitudinal study of 155 PwMS who attended the MS Centre at Karolinska University Hospital...

A nationwide survey of the influence of month of birth on the risk of developing multiple sclerosis in Sweden and Iceland

Previous studies have shown that the risk of multiple sclerosis (MS) is associated with season of birth with a higher proportion of MS patients being born in spring. However, this relationship has recently been questioned and may be due to confounding factors. Our aim was to assess the influence from season or month of birth on the risk of developing MS in Sweden and Iceland...

Neurological update: gliomas and other primary brain tumours in adults

The emerging understanding of molecular changes in a wide range of brain tumours has led to a significant shift in how these tumours are diagnosed, managed and treated. This article will provide a hands-on overview of the relevant biomarkers and their association with newly defined biological tumour entities.