title: SPG7 mutations are a common cause of undiagnosed ataxia.
authors: From the Wellcome Trust Centre for Mitochondrial Research (G.P., A.P., H.G., V.W., L.T., G.E., R.H., P.F.C.) and Institute of Genetic Medicine (G.P., A.P., H.G., R.H., P.F.C.), Newcastle University, Newcastle-upon-Tyne; John Radcliffe Hospital (J.M., K.F., D.S., A.N.), University of Oxford; Royal Hallamshire Hospital (M.H.), University of Sheffield; and Churchill Hospital (A.N.), Oxford, UK.
authors: Gerald
authors: G
authors: Pfeffer
authors: From the Wellcome Trust Centre for Mitochondrial Research (G.P., A.P., H.G., V.W., L.T., G.E., R.H., P.F.C.) and Institute of Genetic Medicine (G.P., A.P., H.G., R.H., P.F.C.), Newcastle University, Newcastle-upon-Tyne; John Radcliffe Hospital (J.M., K.F., D.S., A.N.), University of Oxford; Royal Hallamshire Hospital (M.H.), University of Sheffield; and Churchill Hospital (A.N.), Oxford, UK.
authors: Angela
authors: A
authors: Pyle
authors: From the Wellcome Trust Centre for Mitochondrial Research (G.P., A.P., H.G., V.W., L.T., G.E., R.H., P.F.C.) and Institute of Genetic Medicine (G.P., A.P., H.G., R.H., P.F.C.), Newcastle University, Newcastle-upon-Tyne; John Radcliffe Hospital (J.M., K.F., D.S., A.N.), University of Oxford; Royal Hallamshire Hospital (M.H.), University of Sheffield; and Churchill Hospital (A.N.), Oxford, UK.
authors: Helen
authors: H
authors: Griffin
authors: From the Wellcome Trust Centre for Mitochondrial Research (G.P., A.P., H.G., V.W., L.T., G.E., R.H., P.F.C.) and Institute of Genetic Medicine (G.P., A.P., H.G., R.H., P.F.C.), Newcastle University, Newcastle-upon-Tyne; John Radcliffe Hospital (J.M., K.F., D.S., A.N.), University of Oxford; Royal Hallamshire Hospital (M.H.), University of Sheffield; and Churchill Hospital (A.N.), Oxford, UK.
authors: Jack
authors: J
authors: Miller
authors: From the Wellcome Trust Centre for Mitochondrial Research (G.P., A.P., H.G., V.W., L.T., G.E., R.H., P.F.C.) and Institute of Genetic Medicine (G.P., A.P., H.G., R.H., P.F.C.), Newcastle University, Newcastle-upon-Tyne; John Radcliffe Hospital (J.M., K.F., D.S., A.N.), University of Oxford; Royal Hallamshire Hospital (M.H.), University of Sheffield; and Churchill Hospital (A.N.), Oxford, UK.
authors: Valerie
authors: V
authors: Wilson
authors: From the Wellcome Trust Centre for Mitochondrial Research (G.P., A.P., H.G., V.W., L.T., G.E., R.H., P.F.C.) and Institute of Genetic Medicine (G.P., A.P., H.G., R.H., P.F.C.), Newcastle University, Newcastle-upon-Tyne; John Radcliffe Hospital (J.M., K.F., D.S., A.N.), University of Oxford; Royal Hallamshire Hospital (M.H.), University of Sheffield; and Churchill Hospital (A.N.), Oxford, UK.
authors: Lisa
authors: L
authors: Turnbull
authors: From the Wellcome Trust Centre for Mitochondrial Research (G.P., A.P., H.G., V.W., L.T., G.E., R.H., P.F.C.) and Institute of Genetic Medicine (G.P., A.P., H.G., R.H., P.F.C.), Newcastle University, Newcastle-upon-Tyne; John Radcliffe Hospital (J.M., K.F., D.S., A.N.), University of Oxford; Royal Hallamshire Hospital (M.H.), University of Sheffield; and Churchill Hospital (A.N.), Oxford, UK.
authors: Katherine
authors: K
authors: Fawcett
authors: From the Wellcome Trust Centre for Mitochondrial Research (G.P., A.P., H.G., V.W., L.T., G.E., R.H., P.F.C.) and Institute of Genetic Medicine (G.P., A.P., H.G., R.H., P.F.C.), Newcastle University, Newcastle-upon-Tyne; John Radcliffe Hospital (J.M., K.F., D.S., A.N.), University of Oxford; Royal Hallamshire Hospital (M.H.), University of Sheffield; and Churchill Hospital (A.N.), Oxford, UK.
authors: David
authors: D
authors: Sims
authors: From the Wellcome Trust Centre for Mitochondrial Research (G.P., A.P., H.G., V.W., L.T., G.E., R.H., P.F.C.) and Institute of Genetic Medicine (G.P., A.P., H.G., R.H., P.F.C.), Newcastle University, Newcastle-upon-Tyne; John Radcliffe Hospital (J.M., K.F., D.S., A.N.), University of Oxford; Royal Hallamshire Hospital (M.H.), University of Sheffield; and Churchill Hospital (A.N.), Oxford, UK.
authors: Gail
authors: G
authors: Eglon
authors: From the Wellcome Trust Centre for Mitochondrial Research (G.P., A.P., H.G., V.W., L.T., G.E., R.H., P.F.C.) and Institute of Genetic Medicine (G.P., A.P., H.G., R.H., P.F.C.), Newcastle University, Newcastle-upon-Tyne; John Radcliffe Hospital (J.M., K.F., D.S., A.N.), University of Oxford; Royal Hallamshire Hospital (M.H.), University of Sheffield; and Churchill Hospital (A.N.), Oxford, UK.
authors: Marios
authors: M
authors: Hadjivassiliou
authors: From the Wellcome Trust Centre for Mitochondrial Research (G.P., A.P., H.G., V.W., L.T., G.E., R.H., P.F.C.) and Institute of Genetic Medicine (G.P., A.P., H.G., R.H., P.F.C.), Newcastle University, Newcastle-upon-Tyne; John Radcliffe Hospital (J.M., K.F., D.S., A.N.), University of Oxford; Royal Hallamshire Hospital (M.H.), University of Sheffield; and Churchill Hospital (A.N.), Oxford, UK.
authors: Rita
authors: R
authors: Horvath
authors: From the Wellcome Trust Centre for Mitochondrial Research (G.P., A.P., H.G., V.W., L.T., G.E., R.H., P.F.C.) and Institute of Genetic Medicine (G.P., A.P., H.G., R.H., P.F.C.), Newcastle University, Newcastle-upon-Tyne; John Radcliffe Hospital (J.M., K.F., D.S., A.N.), University of Oxford; Royal Hallamshire Hospital (M.H.), University of Sheffield; and Churchill Hospital (A.N.), Oxford, UK.
authors: Andrea
authors: A
authors: Németh
authors: From the Wellcome Trust Centre for Mitochondrial Research (G.P., A.P., H.G., V.W., L.T., G.E., R.H., P.F.C.) and Institute of Genetic Medicine (G.P., A.P., H.G., R.H., P.F.C.), Newcastle University, Newcastle-upon-Tyne; John Radcliffe Hospital (J.M., K.F., D.S., A.N.), University of Oxford; Royal Hallamshire Hospital (M.H.), University of Sheffield; and Churchill Hospital (A.N.), Oxford, UK. patrick.chinnery@ncl.ac.uk.
authors: Patrick F
authors: PF
authors: Chinnery
mesh_terms: D000074183:ATPases Associated with Diverse Cellular Activities; D000328:Adult; D001259:Ataxia / Q000175:diagnosis* / Q000235:genetics*; D005260:Female; D005500:Follow-Up Studies; D006801:Humans; D008297:Male; D008666:Metalloendopeptidases / Q000235:genetics*; D008875:Middle Aged; D009154:Mutation / Q000235:genetics*; D055815:Young Adult
chemical_list: D008666:Metalloendopeptidases; C112889:SPG7 protein, human; D000074183:ATPases Associated with Diverse Cellular Activities