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Amyotrophic lateral sclerosis (ALS) is a motor neuron degenerative disease that leads to death within 2-5 years of onset
.
In 2008, mutations in the TARDBP gene encoding TDP-43 were identified as a cause of familial and sporadic ALS
.
Amyotrophic lateral sclerosis (ALS) is a motor neuron degenerative disease that leads to death within 2-5 years of onset
.
Patients with TARDBP P.
A38 2T mutation, diagnosed with genetically determined ALS between 2009 and 2019, according to the revised diagnostic criteria of EL ESCORIL at the Turin ALS Center (RITA Levy Munalc II, Department of Neuroscience, University of Turin, Italy), at diagnosis Received brain 18F-FDG-PET
.
Patients with TARDBP P.
According to the El Escorial revised diagnostic criteria, 46 patients diagnosed with ALS were randomly collected from a cohort of 665 subjects diagnosed with ALS during the same period in the Turin ALS Center
Comparison of results between TARDBP group and control ALS group
Comparison of results between TARDBP group and control ALS groupAge at PET was significantly lower in TARDBP-ALS patients compared to control ALS patients (median 59.
8 years, interquartile range, IQR, 45.
Age at PET was significantly lower in TARDBP-ALS patients compared to control ALS patients (median 59.
Metabolism was significantly decreased in the right precentral and postcentral gyri, superior and middle temporal gyrus, and insula in TARDBP-ALS
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