Journal of neurology, neurosurgery, and psychiatry
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J. Neurol. Neurosurg. Psychiatr. · Jan 2025
Linking LRP12 CGG repeat expansion to inherited peripheral neuropathy.
The causative genes for over 60% of inherited peripheral neuropathy (IPN) remain unidentified. This study endeavours to enhance the genetic diagnostic rate in IPN cases by conducting screenings focused on non-coding repeat expansions. ⋯ We initially elucidate LRP12 repeat expansions as a prevalent cause of CMT, highlighting the necessity for an adapted screening strategy in clinical practice, particularly when addressing patients with IPN.
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J. Neurol. Neurosurg. Psychiatr. · Jan 2025
Effectiveness of the Interdisciplinary Home-bAsed Reablement Programme (I-HARP) on improving functional independence of people living with dementia: a multicentre, pragmatic, randomised, open-label, controlled trial.
We investigated the effectiveness of an Interdisciplinary Home-bAsed Reablement Programme (I-HARP) on improving functional independence, health and well-being of people with dementia, family carer outcomes and costs. ⋯ Primary outcomes were not met for a population of people with dementia, with severity ranging from mild to moderate and severe. The I-HARP model appeared to benefit functional independence of participants with mild dementia, with potential cost savings.