OBJECTIVE To evaluate the phenotypic spectrum associated with mutations in TBC1D24. METHODS We acquired new clinical, EEG, and neuroimaging data of 11 previously unreported and 37 published patients. TBC1D24 mutations, identified through various sequencing methods, can be found online (http://lovd.nl/TBC1D24). RESULTS Forty-eight patients were included (28 men, 20 women, average age 21 year...

background: amyotrophic lateral sclerosis (als) is the most common motor neuron disorder in european populations. als can be sporadic als (sals) or familial als (fals). among 20 known als genes, mutations in c9orf72 and superoxide dismutase 1 (sod1) are the most common genetic causes of the disease. whereas c9orf72 mutations are more common in western populations, the contribution of sod1 to al...

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Background and aimsPseudoxanthoma elasticum (PXE) is caused by variants in the ABCC6 gene. It results calcification skin, peripheral arteries eyes, but has considerable phenotypic variability. We investigated association between genotype clinical phenotypes these different organs.MethodsABCC6 sequencing was performed 289 PXE patients. Genotypes were grouped as two truncating, mixed, or non-trun...