Does whole-exome sequencing identify novel compound heterozygous mutations in USH2A in Spanish patients with autosomal recessive retinitis pigmentosa?
Using WES, we identified two heterozygous novel mutations in USH2A as the most likely disease-causing variants in a Spanish family diagnosed with arRP in which the cause of the disease had not yet been identified with commonly used techniques. Our data reinforce the clinical role of WES in the molecular diagnosis of highly heterogeneous genetic diseases where conventional genetic approaches have previously failed in achieving a proper diagnosis.
Freezers have more difficulties adapting their gait during both suddenly triggered and continued gait speed asymmetry. The impaired ability of freezers during both switching and reswitching would suggest that they have an adaptive deficit rather than difficulties with asymmetry per se. Future work needs to address whether these adaptation problems can be ameliorated with rehabilitation.