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There are mutations in the copper/zinc (Cu/Zn) superoxide dismutase gene (SOD1) in 15 to 20% of individuals with familial amyotrophic lateral sclerosis (FALS), [1] but the etiology of the remaining cases is unknown. A characteristic pathologic feature of amyotrophic lateral sclerosis (ALS) is the presence of a large amount of swelling in the proximal axon of motor neurons containing an accumulation of neurofilaments. [2] Furthermore, altering neurofilament proteins in transgenic mice reproduces ALS in these animals. [3-5] We recently identified deletions in the C-terminal KSP repeat region of the NEFH gene in 5 of 356 patients with sporadic ALS. [6] Thus, we hypothesized that mutations in this repeat region might be the underlying genetic cause of neurofilament accumulation in non-SOD1 FALS. We analyzed the KSP repeat region in 117 unrelated individuals with FALS who did not have mutations in the SOD1 gene.
Methods.
Patient samples.
Blood was drawn from 117 unrelated patients with FALS, and from their relatives whenever possible. [1] DNA was extracted using standard methods. The diagnosis of definite ALS …
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