Journal of neurology, neurosurgery, and psychiatry
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The prevalence and definition of benign multiple sclerosis (BMS) remain controversial. Most definitions are based on the Expanded Disability Status Scale (EDSS), not encompassing the wider impact of disease. The explanation for favourable outcomes remains unclear. We aim to provide a detailed characterisation of patients with low EDSS scores at long disease durations. ⋯ Comprehensive assessment reveals a small minority of people with MS who appear genuinely benign after 15 years. Study of such individuals may uncover insights about disease pathogenesis. However, discrepancy between patient perception and clinician perception of BMS undermines use of the term 'benign' in clinical settings.
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J. Neurol. Neurosurg. Psychiatr. · May 2019
Burden of rare variants in causative genes for amyotrophic lateral sclerosis (ALS) accelerates age at onset of ALS.
To evaluate the burden of rare variants in the causative genes for amyotrophic lateral sclerosis (ALS) on the age at onset of ALS in a Japanese case series. ⋯ A substantial number of patients carried rare variants in multiple genes, and the burden of rare variants in the known causative genes for ALS affects the age at onset in the Japanese ALS series.
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J. Neurol. Neurosurg. Psychiatr. · May 2019
Letter Observational StudyAcute EEG spectra characteristics predict thalamic atrophy after severe TBI.
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J. Neurol. Neurosurg. Psychiatr. · May 2019
Intensive upper limb neurorehabilitation in chronic stroke: outcomes from the Queen Square programme.
Persistent difficulty in using the upper limb remains a major contributor to physical disability post-stroke. There is a nihilistic view about what clinically relevant changes are possible after the early post-stroke phase. The Queen Square Upper Limb Neurorehabilitation programme delivers high-quality, high-dose, high-intensity upper limb neurorehabilitation during a 3-week (90 hours) programme. Here, we report clinical changes made by the chronic stroke patients treated on the programme, factors that might predict responsiveness to therapy and the relationship between changes in impairment and activity. ⋯ With intensive upper limb rehabilitation, chronic stroke patients can change by clinically important differences in measures of impairment and activity. Crucially, clinical gains continued during the 6-month follow-up period.