A novel frameshift mutation of DDHD1 in a Japanese patient with autosomal recessive spastic paraplegia.

@article{Miura2016ANF,
  title={A novel frameshift mutation of DDHD1 in a Japanese patient with autosomal recessive spastic paraplegia.},
  author={Shiroh Miura and Takuya Morikawa and Ryuta Fujioka and Kengo Kosaka and Kohei Yamada and Gohsuke Hattori and Manabu Motomura and Takayuki Taniwaki and Hiroki Shibata},
  journal={European journal of medical genetics},
  year={2016},
  volume={59 8},
  pages={413-6}
}
Spastic paraplegia (SPG) type 28 is an autosomal recessive SPG caused by mutations in the DDHD1 gene. We examined a Japanese 54-years-old male patient with autosomal recessive SPG. His parents were consanguineous. He needed a wheelchair for transfer due to spastic paraplegia. There was a history of operations for bilateral hallux valgus, thoracic ossification of the yellow ligament, bilateral carpal tunnel syndrome, bilateral ankle contracture, and lumbar spinal canal stenosis. He noticed gait… CONTINUE READING
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