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Mutations in the SOD1 gene are the second-most common cause of familial ALS, found in about 10-20% of cases, as well as 1-2% of sporadic ALS cases. Researchers have identified more than 150 different mutations in the SOD1 gene linked to ALS.
13 Αυγ 2013 · ALS caused by ANG gene mutation is named as ALS9, an autosomal dominant adult onset disease presenting with the classic signs of ALS. A few patients also presented with parkinsonism and signs of FTD . ANG is located at chromosome 14q11.2 and is first identified in ALS patients from Ireland and Scotland .
6 Δεκ 2019 · Patient-derived ONS cells have shown disease-specific alterations in gene expression and cell function in several complex neurological disorders including schizophrenia, Parkinson’s disease, and dysautonomia (Boone et al., 2010; Cook et al., 2011; Fan et al., 2012; Mackay-Sim, 2012).
6 Απρ 2023 · Discovering mutations in KIF5A and several other motor protein and cytoskeleton-related genes, such as DCTN1, PFN1, SPAST and TUBA4A, highlighted the pivotal role of the cytoskeleton in ALS ...
The phenotypic spectrum of amyotrophic lateral sclerosis (ALS) genetics. ( A) Forty-six ALS-related genes are arrayed along axes that depict two major phenotypic aspects: the extent to which corticospinal versus lower motor neurons are involved ( y -axis) and the overlap with frontotemporal dementia (FTD) ( x -axis).
13 Ιουν 2022 · More than 30 ALS-causing and related genes have been identified. The identification of the SOD1 gene as the causative gene in 1993 was a major step forward in the study field of ALS [9,10,11].
14 Ιουλ 2022 · The C9orf72 gene is the most commonly mutated gene among ALS patients. This gene’s mutations make up approximately half of familial ALS cases and are associated with a significant portion of sporadic cases of ALS.
