Novel CAPN1 missense variants in complex hereditary spastic paraplegia with early‐onset psychosis
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DOI: 10.1002/acn3.51531
Abstract: CAPN1‐associated hereditary spastic paraplegia (SPG76) is a rare and clinically heterogenous syndrome due to loss of calpain‐1 function. Here we illustrate a translational approach to the case of an 18‐year‐old patient who first presented with… read more here.
Keywords: novel capn1; missense variants; spastic paraplegia; hereditary spastic ... See more keywords