Introduction. @entity9718 ( @entity9718 ) is a rare @entity74 that primarily involves progressive @entity508 of the legs (hamstrings, quadriceps, and @entity291 ). Methods. A 27-year-old gentleman was a fast runner and able to play soccer until age 9 when he developed slowly progressive @entity425 . He was wheelchair-bound by age 25. He was evaluated by laboratory testing, imaging, electrodiagnostics, and molecular genetics. Results. Electrodiagnostic testing revealed an @entity39097 . Genetic testing for @entity9718 in 2003 was negative; repeat testing in 2013 revealed a mutation in @entity63241 ( @entity69780 ; @entity63244 ). Conclusions. A recent advance in neurogenetics has allowed for more genes and mutations to be identified; over 76 different genetic loci for @entity9718 and 59 gene products are currently known. Even though our @entity1 had a sensorimotor @entity305 on electrodiagnostic testing and a 2003 @entity9718 genetic panel that was negative, a repeat @entity9718 genetic panel was performed in 2013 due to the advancement in neurogenetics. This revealed a mutation in @entity63241 .

Progressive Lower Extremity Weakness and XXXX from a Mutation in @entity63241 ( @entity69780 ; @entity63244 ).

@entity1 :: ('9606', 'Species') :: ['patient'] @entity9718 :: ('MESH:D015419', 'Disease') :: ['Hereditary Spastic Paraplegia', 'HSP'] @entity508 :: ('MESH:D009128', 'Disease') :: ['spasticity'] @entity305 :: ('MESH:D011115', 'Disease') :: ['polyneuropathy'] @entity425 :: ('MESH:D018908', 'Disease') :: ['weakness'] @entity69780 :: ('c|SUB|G|611|A', 'DNAMutation') :: ['c.611G>A'] @entity74 :: ('MESH:D030342', 'Disease') :: ['hereditary disorder'] @entity63241 :: ('3798', 'Gene') :: ['KIF5A'] @entity39097 :: ('MESH:C565773', 'Disease') :: ['axonal sensorimotor polyneuropathy'] @entity63244 :: ('p|SUB|R|204|Q', 'ProteinMutation') :: ['p.Arg204Gln'] @entity291 :: ('9913', 'Species') :: ['calves']
@entity39097 :: (MESH:C565773,Disease) :: ['Axonal Sensorimotor Polyneuropathy']
