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Article

SORL1 mutations are associated with parkinsonian and psychiatric features in Alzheimer disease: Case reports.

Medicine - 23 Apr 2021

Qiu Guozhen, Xu Chunyan, Guo Qiwen, Zhu Fei-Qi

Abstract excerpt

RATIONALE: The sortilin-related receptor 1 gene (SORL1) encodes a key protein (SORLA) involved in the pathophysiology of Alzheimer disease (AD). SORLA also mediates a trophic pathway that acts through glial cell line-derived neurotrophic factor (GDNF), a critical survival factor for the midbrain dopaminergic (DA) neurons. PATIENT CONCERNS: Four patients presented to our hospital with complaints of progressive...

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Identifiers

PMID: 33879716
DOI: 10.1097/MD.0000000000025585
PMCID: PMC8078300

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