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Article

Plasma Neurofilament Light Chain Is Elevated in Adaptor Protein Complex 4-Related Hereditary Spastic Paraplegia.

Movement disorders : official journal of the Movement Disorder Society - 1 Sept 2023

Alecu Julian E, Saffari Afshin, Ziegler Marvin, Jordan Catherine, Tam Amy, Kim Soyoung, Leung Edward, Szczaluba Krzysztof, Mierzewska Hanna, King Staci D, Santorelli Filippo M, Yoon Grace, Trombetta Bianca, Kivisäkk Pia, Zhang Bo, Sahin Mustafa, Ebrahimi-Fakhari Darius

Abstract excerpt

BACKGROUND: Adaptor protein complex 4-associated hereditary spastic paraplegia (AP-4-HSP) is caused by pathogenic biallelic variants in AP4B1, AP4M1, AP4E1, and AP4S1. OBJECTIVE: The aim was to explore blood markers of neuroaxonal damage in AP-4-HSP. METHODS: Plasma neurofilament light chain (pNfL) and glial fibrillary acidic protein (GFAP) levels were measured in samples from patients and age- and sex-matched...

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Identifiers

PMID: 37482941
DOI: 10.1002/mds.29524
PMCID: PMC10529494

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