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A homozygous splice variant in AP4S1 mimicking neurodegeneration with brain iron accumulation

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PD patients treated with STN-DBS and LCIG, worsening activities of daily living by threefold after adjusting for cognitive impairment, age, and motor severity. Importantly, both symptomatic and asymptomatic orthostatic hypotension… Click to show full abstract

PD patients treated with STN-DBS and LCIG, worsening activities of daily living by threefold after adjusting for cognitive impairment, age, and motor severity. Importantly, both symptomatic and asymptomatic orthostatic hypotension impaired ADL/iADL to a similar extent. Although the results of this cross-sectional study need to be confirmed in prospective clinical trials evaluating patients before and after STN-DBS/LCIG, we suggest that identifying and managing autonomic targets, in addition to addressing motor disability, may enhance outcomes of these advanced PD therapies.

Keywords: neurodegeneration brain; mimicking neurodegeneration; ap4s1 mimicking; variant ap4s1; splice variant; homozygous splice

Journal Title: Movement Disorders
Year Published: 2017

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