Hereditary spastic paraplegia (HSP) is characterized by progressive lower limb spasticity.
There is no disease-modifying treatment currently available. Therefore, standardized …

Mitochondria are critical for brain development and homeostasis. Therefore, pathogenic
variation in the mitochondrial or nuclear genome which disrupts mitochondrial function …

Spastic paraplegia 50 (SPG50) is an ultrarare childhood-onset neurological disorder caused
by biallelic loss-of-function variants in the AP4M1 gene. SPG50 is characterized by …

Unbiased phenotypic screens in patient-relevant disease models offer the potential to detect
therapeutic targets for rare diseases. In this study, we developed a high-throughput …

Background Adaptor protein complex 4‐associated hereditary spastic paraplegia (AP‐4‐
HSP) is caused by pathogenic biallelic variants in AP4B1, AP4M1, AP4E1, and AP4S1 …

Mutations in any one of the four subunits (ɛ4, β4, μ4 and σ4) comprising the adaptor protein
Complex 4 results in a complex form of hereditary spastic paraplegia, often termed adaptor …

Abstract Spastic paraplegia 47 (SPG47) is a neurological disorder caused by mutations in
the adaptor protein complex 4 β1 subunit (AP4B1) gene leading to AP-4 complex deficiency …

Background Deciphering variants of uncertain significance (VUS) represents a major
diagnostic challenge, partially due to the lack of easy-to-use and versatile cellular readouts …

Mutations in the heterotetrametric adaptor protein 4 (AP-4; ε/β4/μ4/σ4 subunits) membrane
trafficking coat complex lead to complex neurological disorders characterized by spastic …

Childhood‐onset forms of hereditary spastic paraplegia are ultra‐rare diseases and often
present with complex features. Next‐generation‐sequencing allows for an accurate …