Giorgio Bernardi MD

Publications (1)4.51 Total impact

• Article: Novel SPG6 mutation p.A100T in a Japanese family with autosomal dominant form of hereditary spastic paraplegia

  PhD Satoshi Kaneko MD, Toshitaka Kawarai MD, Edwin Yip, Shabnam Salehi-Rad BSc, Christine Sato BSc, PhD Antonio Orlacchio MD, Giorgio Bernardi MD, Yan Liang MD, Hiroshi Hasegawa MD, Ekaterina Rogaeva PhD, [......], Satoshi Kaneko, Toshitaka Kawarai, Shabnam Salehi‐Rad, Christine Sato, Antonio Orlacchio, Giorgio Bernardi, Yan Liang, Hiroshi Hasegawa, Ekaterina Rogaeva, Peter St George‐Hyslop
  [show abstract] [hide abstract]
  ABSTRACT: We describe a Japanese family in which inheritance of a novel mutation p.A100T in SPG6 resulted in an autosomal dominant form of hereditary spastic paraplegia (ADHSP). Clinical investigation showed a pure form of HSP. Our study demonstrates further allelic heterogeneity of SPG6. © 2006 Movement Disorder Society
  Movement Disorders 08/2006; 21(9):1531 - 1533. · 4.51 Impact Factor