Journal of neurology, neurosurgery, and psychiatry
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J. Neurol. Neurosurg. Psychiatr. · Jan 2016
A 60-year follow-up of the incidence and prevalence of multiple sclerosis in Hordaland County, Western Norway.
Investigate the incidence of multiple sclerosis during 1953-2013 and estimate the prevalence rate of MS on 1 January 2003 and 2013 in Hordaland County, Western Norway. ⋯ Stabilising rather than increasing incidence combined with the stable female/male ratio are indicative of non-fluctuating environmental factors in a geographical area otherwise characterised by lack of vitamin D effective sun exposure. The rising prevalence of MS could result from improved survival and follow-up methodology.
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J. Neurol. Neurosurg. Psychiatr. · Jan 2016
ReviewCamptocormia in Parkinson's disease: definition, epidemiology, pathogenesis and treatment modalities.
Camptocormia is an axial postural deformity characterised by abnormal thoracolumbar spinal flexion. The symptom usually presents while standing, walking or exercising and is alleviated while sitting, lying in a recumbent position, standing against a wall or using walking support. There is no consensus on the degree of thoracolumbar flexion to define camptocormia. ⋯ The prevalence of camptocormia in PD ranges from 3% to 18%. Central and peripheral mechanisms might both contribute to its pathogenesis. Although there is no established consensus for treatment of camptocormia in PD, there are non-pharmacological, pharmacological and surgical approaches that can be used.
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J. Neurol. Neurosurg. Psychiatr. · Jan 2016
Multicenter Study Observational StudyLOPED study: looking for an early diagnosis in a late-onset Pompe disease high-risk population.
A multicentre observational study was aimed to assess the prevalence of late-onset Pompe disease (LOPD) in a large high-risk population, using the dried blood spot (DBS) as a main screening tool. ⋯ LOPED study suggests that GAA activity should be accurately screened by DBS in all patients referring for isolated hyperCKaemia and/or LGMW. A timely diagnosis was performed in five patients with presymptomatic hyperCKaemia, but two had already manifested with relevant changes on muscle morphology and MRI. Consequently, enzyme replacement therapy was started in 14/17 patients, including the 2 patients still clinically presymptomatic but with a laboratory evidence of disease progression.
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J. Neurol. Neurosurg. Psychiatr. · Jan 2016
Establishing pathological cut-offs of brain atrophy rates in multiple sclerosis.
To assess whether it is feasible to establish specific cut-off values able to discriminate 'physiological' or 'pathological' brain volume rates in patients with multiple sclerosis (MS). ⋯ Our evidence-based criteria provide values able to discriminate the presence or absence of 'pathological' brain volume loss in MS with high specificity. Such results could be of great value in a clinical setting, particularly in assessing treatment efficacy in MS.
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J. Neurol. Neurosurg. Psychiatr. · Jan 2016
Psychiatric diagnoses underlying the phenocopy syndrome of behavioural variant frontotemporal dementia.
The frontotemporal dementia (FTD) consortium criteria (2011) emphasise the importance of distinguishing possible and probable behavioural variant FTD (bvFTD). A significant number of possible patients with bvFTD do not show functional decline and remain with normal neuroimaging over time, thus exhibiting the bvFTD phenocopy syndrome. A neurodegenerative nature is unlikely but an alternative explanation is missing. Our aim was to detect psychiatric conditions underlying the bvFTD phenocopy syndrome after extensive evaluation. ⋯ This is the first study thoroughly exploring psychiatric causes of the bvFTD phenocopy syndrome, revealing that in most cases multiple factors played a contributory role. Our study gives arguments for neurological and psychiatric collaboration when diagnosing bvFTD. Prompt diagnosis of treatable psychiatric conditions is to be gained.