Mutations in SPG11, encoding spatacsin, are a major cause of spastic paraplegia with thin corpus callosum

Nature Genetics

Volumn 39, Issue 3, 2007, Pages 366-372

  Stevanin, Giovanni ^a,b   Santorelli, Filippo M ^c   Azzedine, Hamid ^a,b   Coutinho, Paula ^d,e   Chomilier, Jacques ^f   Denora, Paola S ^c   Martin, Elodie ^a,b   Ouvrard Hernandez, Anne Marie ^g   Tessa, Alessandra ^c   Bouslam, Naïma ^a,b   Lossos, Alexander ^h   Charles, Perrine ^a   Loureiro, José L ^d,e   Elleuch, Nizar ^a,b   Confavreux, Christian ⁱ   Cruz, Vítor T ^e   Ruberg, Merle ^a,b   Leguern, Eric ^a,b   Grid, Djamel ^j   Tazir, Meriem ^k   Fontaine, Bertrand ^a,b   Filla, Alessandro ^l   Bertini, Enrico ^c   Durr, Alexandra ^a,b   Brice, Alexis ^a,b   more..

^a PITIÉ SALPÊTRIÈRE HOSPITAL   (France)

^b SORBONNE UNIVERSITÉ   (France)

^c BAMBINO GESÙ CHILDREN S HOSPITAL   (Italy)

^d UNIVERSITY OF PORTO   (Portugal)

^e Hospital So Sebastio   (Portugal)

^f UNIVERSITÉ PIERRE ET MARIE CURIE   (France)

^g GRENOBLE UNIVERSITY HOSPITAL   (France)

^h HADASSAH HEBREW UNIVERSITY MEDICAL CENTER   (Israel)

ⁱ HÔPITAL NEUROLOGIQUE   (France)

^j GÉNÉTHON   (France)

^k CHU Mustapha   (Algeria)

^l UNIVERSITY OF NAPLES FEDERICO II   (Italy)

more..

Author keywords

[No Author keywords available]

Indexed keywords

GENE PRODUCT; PROTEIN; SPATACSIN; UNCLASSIFIED DRUG;

ANIMAL CELL; ANIMAL TISSUE; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; AUTOSOMAL RECESSIVE HEREDITARY SPASTIC PARAPLEGIA THIN CORPUS CALLOSUM; BRAIN CORTEX; BRAIN DEGENERATION; CEREBELLUM; CONTROLLED STUDY; CORPUS CALLOSUM; FEMALE; FRAMESHIFT MUTATION; GENE DELETION; GENE EXPRESSION PROFILING; GENE FUNCTION; GENE INSERTION; GENE LOCATION; GENE MUTATION; HEREDITARY MOTOR SENSORY NEUROPATHY; HIPPOCAMPUS; HUMAN; MAJOR CLINICAL STUDY; MALE; NONHUMAN; NONSENSE MUTATION; NUCLEOTIDE SEQUENCE; PINEAL BODY; PRIORITY JOURNAL; PYRAMIDAL TRACT; RAT;

ADOLESCENT; ADULT; AGE OF ONSET; ANIMALS; BASE SEQUENCE; CERCOPITHECUS AETHIOPS; CEREBRAL CORTEX; CHILD; CHROMOSOMES, HUMAN, PAIR 15; CORPUS CALLOSUM; COS CELLS; DNA MUTATIONAL ANALYSIS; GENOTYPE; HUMANS; LINKAGE (GENETICS); LOD SCORE; MOLECULAR SEQUENCE DATA; MUTATION; PEDIGREE; PROTEINS; RATS; RATS, SPRAGUE-DAWLEY; SPASTIC PARAPLEGIA, HEREDITARY;

EID: 33847298447     PISSN: 10614036     EISSN: 15461718     Source Type: Journal    
DOI: 10.1038/ng1980     Document Type: Article

References (24)

1. Harding, A.E. Classification of the hereditary ataxias and paraplegias. Lancet 1, 1151-1155 (1983).
2. Nakamura, A. et al. Familial spastic paraplegia with mental impairment and thin corpus callosum. J. Neurol. Sci. 131, 35-42 (1995).
3. Winner, B. et al. Clinical progression and genetic analysis in hereditary spastic paraplegia with thin corpus callosum in spastic gait gene 11 (SPG11). Arch. Neurol. 61, 117-121 (2004).
4. Martinez, M.F. et al. Genetic localization of a new locus for recessive familial spastic paraparesis to 15q13-15. Neurology 53, 50-56 (1999).
5. Casali, C. et al. Clinical and genetic studies in hereditary spastic paraplegia with thin corpus callosum. Neurology 62, 262-268 (2004).
6. Shibasaki, Y. et al. Linkage of autosomal recessive hereditary spastic paraplegia with mental impairment and thin corpus callosum to chromosome 15q13-15. Ann. Neurol. 48, 108-112 (2000).
7. Lossos, A. et al. Hereditary spastic paraplegia with thin corpus callosum: reduction of the SPG11 interval and evidence for further genetic heterogeneity. Arch. Neurol. 63, 756-760 (2006).
8. Stevanin, G. et al. Spastic paraplegia with thin corpus callosum: description of 20 new families, refinement of the SPG11 locus, candidate gene analysis and evidence of genetic heterogeneity. Neurogenetics 7, 149-156 (2006).
9. Olmez, A. et al. Further clinical and genetic characterization of SPG11: hereditary spastic paraplegia with thin corpus callosum. Neuropediatrics 37, 59-66 (2006).
10. Orlacchio, A. et al. Clinical and genetic study of a large SPG4 Italian family. Mov. Disord. 20, 1055-1059 (2005).
11. Hughes, C.A. et al. SPG15, a new locus for autosomal recessive complicated HSP on chromosome 14q. Neurology 56, 1230-1233 (2001).
12. Simpson, M.A. et al. Maspardin is mutated in mast syndrome, a complicated form of hereditary spastic paraplegia associated with dementia. Am. J. Hum. Genet. 73, 1147-1156 (2003).
13. Al Yahyaee, S. et al. A novel locus for hereditary spastic paraplegia with thin corpus callosum and epilepsy. Neurology 66, 1230-1234 (2006).
14. Howard, H.C. et al. The K-Cl cotransporter KCC3 is mutant in a severe peripheral neuropathy associated with agenesis of the corpus callosum. Nat. Genet. 32, 384-392 (2002).
15. Callebaut, I. et al. Deciphering protein sequence information through hydrophobic cluster analysis (HCA): current status and perspectives. Cell. Mol. Life Sci. 53, 621-645 (1997).
16. Nagase, T., Nakayama, M., Nakajima, D., Kikuno, R. & Ohara, O. Prediction of the coding sequences of unidentified human genes. XX. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. DNA Res. 8, 85-95 (2001).
17. Paisan-Ruiz, C. et al. Cloning of the gene containing mutations that cause PARK8-linked Parkinson's disease. Neuron 44, 595-600 (2004).
18. Crosby, A.H. & Proukakis, C. Is the transportation highway the right road for hereditary spastic paraplegia? Am. J. Hum. Genet. 71, 1009-1016 (2002).
19. Gudbjartsson, D.F., Jonasson, K., Frigge, M.L. & Kong, A. Allegro, a new computer program for multipoint linkage analysis. Nat. Genet. 25, 12-13 (2000).
20. Elleuch, N. et al. Mutation analysis of the paraplegin gene (SPG7) in patients with hereditary spastic paraplegia. Neurology 66, 654-659 (2006).
21. Moutsimilli, L. et al. Selective cortical VGLUT1 increase as a marker for antidepressant activity. Neuropharmacology 49, 890-900 (2005).
22. Woodcock, S., Mornon, J.P. & Henrissat, B. Detection of secondary structure elements in proteins by hydrophobic cluster analysis. Protein Eng. 5, 629-635 (1992).
23. Mucchielli-Giorgi, M.H., Hazout, S. & Tuffery, P. Predicting the disulfide bonding state of cysteines using protein descriptors. Proteins 46, 243-249 (2002).
24. Kikuno, R., Nagase, T., Waki, M. & Ohara, O. HUGE: a database for human large proteins identified in the Kazusa cDNA sequencing project. Nucleic Acids Res. 30, 166-168 (2002).