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Clinical and genetic characterization of AP4B1-associated SPG47.
Darius Ebrahimi-Fakhari, Chi Cheng, Kira Dies, Amelia Diplock, Danielle B Pier, Conor S Ryan, Brendan C Lanpher, Jennifer Hirst, Wendy K Chung, Mustafa Sahin, Elisabeth Rosser, Basil Darras, James T Bennett, CureSPG47
Mar 23, 2018
The hereditary spastic paraplegias (HSPs) are a heterogeneous group of disorders characterized by degeneration of the corticospinal and spinocerebellar tracts leading to progressive spasticity. One subtype, spastic paraplegia...
AP4B1 SPG47 cerebral palsy hereditary spastic paraplegia Intellectual Disability Microcephaly Seizures thin corpus callosum Adaptor Protein Complex 4 Alleles Brain Child Child Preschool Diagnostic Imaging Facies Female Genetic Association Studies Genetic Predisposition to Disease Genotype Humans Magnetic Resonance Imaging Male Mutation Phenotype Spastic Paraplegia Hereditary Symptom Assessment