BMC Neurology
Stroke is a leading cause of adult disability worldwide and results in complex impairments affecting motor, cognitive, functional and psychosocial domains. Despite progress in acute management, inconsistent adoption of standardized approaches and incomplete psychometric evidence coverage across functional domains limit the comparability of studies and the optimization of rehabilitation outcomes. …
Hereditary spastic paraplegia type 56 (HSP56) is a rare, autosomal recessive neurodegenerative disorder caused by pathogenic variants in the CYP2U1 gene which encodes a cytochrome P450 enzyme that is critical for fatty acid metabolism and mitochondrial function. Herein, we explore the diagnosis and management of three patients with novel variants in CYP2U1 and review the literature on phenotype-g…
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