Journal of neurology, neurosurgery, and psychiatry
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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
Story of the ALS-FTD continuum retold: rather two distinct entities.
To determine the evolution and profile of cognitive and behavioural deficits in amyotrophic lateral sclerosis (ALS) and behavioural variant frontotemporal dementia (bvFTD) to disentangle the development of FTD in ALS and vice versa. ⋯ Evolution of cognitive and behavioural profile in patients with motor predominant ALS is distinctly different from those psychocognitive findings in patients with behavioural variant dementia. This may support the hypothesis that (possibly genetic) triggers decide in the preclinical phase on either motor or psychocognitive phenotypes.
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J. Neurol. Neurosurg. Psychiatr. · May 2019
Association of autonomic symptoms with disease progression and survival in progressive supranuclear palsy.
Development of autonomic failure is associated with more rapid disease course and shorter survival in patients with Parkinson's disease and multiple system atrophy. However, autonomic symptoms have not been specifically assessed as a prognostic factor in progressive supranuclear palsy (PSP). We evaluated whether development of autonomic symptoms is associated with disease progression and survival in PSP. ⋯ Earlier urinary symptoms and constipation are associated with a more rapid disease progression and reduced survival in patients with PSP.
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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.