showing 3 related works from this author
Olfactory Dysfunction After Head Injury
2008
Objective: To determine the incidence of olfactory dysfunction after head trauma using clinical and radiologic findings, quantitative assessment, and electro-physiologic methods. Participants: A total of 190 patients with head trauma of different severity (n = 32 with mild traumatic brain injury (TBI), n = 94 with signs of moderate TBI, and n = 64 with severe TBI) 6 to 32 months prior to the study. Design: Patients were selected retrospectively, surveyed by telephone (n = 190), and screened for olfactory function with Brief Smell Identification Test (n = 82). Those with olfactory dysfunction were assessed as outpatients using the Sniffin' Sticks (n = 19) and olfactory-evoked potential recor…
Oxidative Stress-Induced Axon Fragmentation Is a Consequence of Reduced Axonal Transport in Hereditary Spastic Paraplegia SPAST Patient Neurons
2020
Hereditary spastic paraplegia (HSP) is a group of inherited disorders characterized by progressive spasticity and paralysis of the lower limbs. Autosomal dominant mutations in SPAST gene account for ∼40% of adult-onset patients. We have previously shown that SPAST patient cells have reduced organelle transport and are therefore more sensitive to oxidative stress. To test whether these effects are present in neuronal cells, we first generated 11 induced pluripotent stem (iPS) cell lines from fibroblasts of three healthy controls and three HSP patients with different SPAST mutations. These cells were differentiated into FOXG1-positive forebrain neurons and then evaluated for multiple aspects …
Mitochondrial Function in Hereditary Spastic Paraplegia: Deficits in SPG7 but Not SPAST Patient-Derived Stem Cells
2020
Mutations in SPG7 and SPAST are common causes of hereditary spastic paraplegia (HSP). While some SPG7 mutations cause paraplegin deficiency, other SPG7 mutations cause increased paraplegin expression. Mitochondrial function has been studied in models that are paraplegin-deficient (human, mouse, and Drosophila models with large exonic deletions, null mutations, or knockout models) but not in models of mutations that express paraplegin. Here, we evaluated mitochondrial function in olfactory neurosphere-derived cells, derived from patients with a variety of SPG7 mutations that express paraplegin and compared them to cells derived from healthy controls and HSP patients with SPAST mutations, as …