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Harding Ae (1993)
Hereditary Spastic ParaplegiasSeminars in Neurology, 13
F. Murillo, H. Kobayashi, E. Pegoraro, G. Galluzzi, G. Creel, C. Mariani, E. Farina, E. Ricci, G. Alfonso, R. Pauli, E. Hoffman (1999)
Genetic localization of a new locus for recessive familial spastic paraparesis to 15q13-15Neurology, 53
S. Webb, David Coleman, P. Byrne, N. Parfrey, Teresa Burke, Judith Hutchinson, Michael Hutchinson (1998)
Autosomal dominant hereditary spastic paraparesis with cognitive loss linked to chromosome 2p.Brain : a journal of neurology, 121 ( Pt 4)
K. Davies, P. Oliver, Emma Jones, A. Jeans, J. Clark, G. Doran, A. Potter, P. Nolan, L. Vizor, P. Glenister, Brown Sdm. (2003)
Functional studies of Af4 in the robotic mouse.American Journal of Human Genetics, 73
A. Orlacchio, T. Kawarai, A. Totaro, A. Errico, P. George-Hyslop, E. Rugarli, G. Bernardi (2004)
Hereditary spastic paraplegia: clinical genetic study of 15 families.Archives of neurology, 61 6
G. Tedeschi, S. Alloca, A. Costanzo, S. Carlomagno, F. Merla, V. Petretta, A. Toriello, G. Tranchino, G. Ambrosio, Vincenzo Bonavita (1991)
Multisystem involvement of the central nervous system in Strümpell's disease A neurophysiological and neuropsychological studyJournal of the Neurological Sciences, 103
S. Blumen, S. Bevan, S. Abu-Mouch, D. Negus, M. Kahana, R. Inzelberg, A. Mazarib, A. Mahamid, R. Carasso, H. Slor, David Withers, P. Nisipeanu, R. Navon, E. Reid (2003)
A locus for complicated hereditary spastic paraplegia maps to chromosome 1q24‐q32Annals of Neurology, 54
K. McNally, O. Bazirgan, F. McNally (2000)
Two domains of p80 katanin regulate microtubule severing and spindle pole targeting by p60 katanin.Journal of cell science, 113 ( Pt 9)
J. Fink (2003)
The hereditary spastic paraplegias: nine genes and counting.Archives of neurology, 60 8
P. Byrne, S. Webb, F. McSweeney, T. Burke, M. Hutchinson, N. Parfrey (1998)
Linkage of AD HSP and cognitive impairment to chromosome 2p: haplotype and phenotype analysis indicates variable expression and low or delayed penetranceEuropean Journal of Human Genetics, 6
C. Tallaksen, E. Guichart-Gomez, P. Verpillat, V. Hahn-Barma, M. Ruberg, B. Fontaine, A. Brice, B. Dubois, A. Durr (2003)
Subtle cognitive impairment but no dementia in patients with spastin mutations.Archives of neurology, 60 8
P. Byrne, P. Monagle, S. Webb, B. Fitzgerald, N. Parfrey, Michael Hutchinson (2000)
Age-related cognitive decline in hereditary spastic paraparesis linked to chromosome 2pNeurology, 54
C. Mcdermott, A. Grierson, Jonathan Wood, M. Bingley, S. Wharton, K. Bushby, P. Shaw (2003)
Hereditary spastic paraparesis: Disrupted intracellular transport associated with spastin mutationAnnals of Neurology, 54
J. Hazan, N. Fonknechten, D. Mavel, C. Paternotte, D. Samson, F. Artiguenave, C. Davoine, C. Cruaud, A. Dürr, P. Wincker, P. Brottier, L. Cattolico, V. Barbe, J. Burgunder, J. Prud'homme, A. Brice, B. Fontaine, R. Heilig, J. Weissenbach (1999)
Spastin, a new AAA protein, is altered in the most frequent form of autosomal dominant spastic paraplegiaNature Genetics, 23
E. Reid, Marko Kloos, A. Ashley-Koch, Lori Hughes, S. Bevan, I. Svenson, F. Graham, P. Gaskell, A. Dearlove, M. Pericak-Vance, D. Rubinsztein, D. Marchuk (2002)
A kinesin heavy chain (KIF5A) mutation in hereditary spastic paraplegia (SPG10).American journal of human genetics, 71 5
A. Errico, A. Ballabio, E. Rugarli (2002)
Spastin, the protein mutated in autosomal dominant hereditary spastic paraplegia, is involved in microtubule dynamics.Human molecular genetics, 11 2
G. Casari, M. Fusco, S. Ciarmatori, M. Zeviani, M. Mora, Patricio Fernandez, G. Michele, A. Filla, S. Cocozza, R. Marconi, A. Dürr, B. Fontaine, A. Ballabio (1998)
Spastic Paraplegia and OXPHOS Impairment Caused by Mutations in Paraplegin, a Nuclear-Encoded Mitochondrial MetalloproteaseCell, 93
E. Reid, C. Grayson, D. Rubinsztein, M. Rogers, J. Rubinsztein (1999)
Subclinical cognitive impairment in autosomal dominant “pure” hereditary spastic paraplegiaJournal of Medical Genetics, 36
I. Puls, Catherine Jonnakuty, Bernadette LaMonte, E. Holzbaur, M. Tokito, E. Mann, M. Floeter, K. Bidus, D. Drayna, Shin Oh, Robert Brown, C. Ludlow, K. Fischbeck (2003)
Mutant dynactin in motor neuron diseaseNature Genetics, 33
B. Winner, G. Uyanik, C. Gross, M. Lange, W. Schulte-Mattler, G. Schuierer, J. Marienhagen, U. Hehr, J. Winkler (2004)
Clinical progression and genetic analysis in hereditary spastic paraplegia with thin corpus callosum in spastic gait gene 11 (SPG11).Archives of neurology, 61 1
Olivier Heinzlef, C. Paternotte, Florence Mahieux, Jean-Franqois Prud'homme, J. Dien, Michel Madigand, Jean Pouget, Jean Weissenbach, Etienne Roullet, J. Hazan (1998)
Mapping of a complicated familial spastic paraplegia to locus SPG4 on chromosome 2p.Journal of Medical Genetics, 35
J. Garbern, D. Yool, G. Moore, Ian Wilds, M. Faulk, M. Klugmann, K. Nave, E. Sistermans, M. Knaap, T. Bird, M. Shy, J. Kamholz, I. Griffiths (2002)
Patients lacking the major CNS myelin protein, proteolipid protein 1, develop length-dependent axonal degeneration in the absence of demyelination and inflammation.Brain : a journal of neurology, 125 Pt 3
S. Wharton, C. Mcdermott, A. Grierson, J. Wood, C. Gelsthorpe, P. Ince, P. Shaw (2003)
The Cellular and Molecular Pathology of the Motor System in Hereditary Spastic Paraparesis due to Mutation of the Spastin GeneJNEN: Journal of Neuropathology & Experimental Neurology, 62
F. Ciccarelli, C. Proukakis, H. Patel, H. Cross, Shakil Azam, M. Patton, P. Bork, A. Crosby (2003)
The identification of a conserved domain in both spartin and spastin, mutated in hereditary spastic paraplegia.Genomics, 81 4
J. Hansen, A. Dürr, I. Cournu-Rebeix, C. Georgopoulos, D. Ang, M. Nielsen, C. Davoine, A. Brice, B. Fontaine, N. Gregersen, P. Bross (2002)
Hereditary spastic paraplegia SPG13 is associated with a mutation in the gene encoding the mitochondrial chaperonin Hsp60.American journal of human genetics, 70 5
M. Hafezparast, R. Klocke, C. Ruhrberg, A. Marquardt, A. Ahmad-Annuar, S. Bowen, G. Lalli, Abi Witherden, H. Hummerich, Sharon Nicholson, P. Morgan, Ravi Oozageer, J. Priestley, S. Averill, V. King, S. Ball, J. Peters, T. Toda, A. Yamamoto, Y. Hiraoka, M. Augustin, D. Korthaus, S. Wattler, P. Wabnitz, Carmen Dickneite, S. Lampel, Florian Boehme, G. Peraus, A. Popp, M. Rudelius, J. Schlegel, H. Fuchs, M. Angelis, G. Schiavo, D. Shima, A. Russ, G. Stumm, Joanne Martin, E. Fisher (2003)
Mutations in Dynein Link Motor Neuron Degeneration to Defects in Retrograde TransportScience, 300
L. Lizcano-Gil, D. García-Cruz, M. Bernal-Beltrán, A. Hernández (1997)
Association of late onset spastic paraparesis and dementia: probably an autosomal dominant form of complicated paraplegia.American journal of medical genetics, 68 1
C. Casali, E. Valente, E. Bertini, G. Montagna, C. Criscuolo, G. Michele, M. Villanova, M. Damiano, A. Pierallini, F. Brancati, V. Scarano, A. Tessa, F. Cricchi, G. Grieco, M. Muglia, M. Carella, Ben Martini, A. Rossi, G. Amabile, G. Nappi, A. Filla, B. Dallapiccola, F. Santorelli (2004)
Clinical and genetic studies in hereditary spastic paraplegia with thin corpus callosumNeurology, 62
EDITORIAL Spastin Phenotype and Function HE HEREDITARY SPASTIC PARAPLEGIAS ment, thin corpus callosum, and cerebellar atrophy. Al- (HSPs) are rapidly being understood as a though thin corpus callosum and mental retardation are large group of genetically heterogeneous frequent features of SPG11 HSP (see recent re- 16,17 disorders in which the predominant views ), which is perhaps the single most common au- T clinical feature is gait disturbance due to tosomal recessive type of HSP, they have not been as- lower-extremity spasticity and weakness. The degree of sociated with SPG4 HSP. It is possible that these features severity and manner of progression are often quite vari- in the kindred described by Orlacchio et al are specifi- able between different genetic types of HSP, between cally associated with the novel SPG4 mutation (N386S) different families with the same genetic type of HSP, they discovered in these subjects. Nonetheless, these find- and between affected subjects from the same family ings provide further evidence that extraspinal involve- who share exactly the same HSP gene mutation. Pres- ment in general and cognitive disturbance in particular ently, genetic loci (designated SPG1 through SPG23 in occur in a proportion of patients with SPG4 HSP. order of
JAMA Neurology – American Medical Association
Published: Jun 1, 2004
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