A total of 220 patients with autosomal dominant spastic paraplegia do not display mutations in the SLC33A1 gene (SPG42)

European Journal of Human Genetics

Volumn 18, Issue 9, 2010, Pages 1065-1067

  Schlipf, Nina A ^a   Beetz, Christian ^b   Schüle, Rebecca ^a   Stevanin, Giovanni ^c,d,e   Erichsen, Anne Kjersti ^f   Forlani, Sylvie ^d,e   Zaros, Cécile ^d,e   Karle, Kathrin ^a   Klebe, Stephan ^g   Klimpe, Sven ^h   Durr, Alexandra ^c,d,e   Otto, Susanne ⁱ   Tallaksen, Chantal M E ^j   Riess, Olaf ^a   Brice, Alexis ^c,d,e   Bauer, Peter ^a   Schöls, Ludger ^a  

^a UNIVERSITY OF TÜBINGEN   (Germany)

^b JENA UNIVERSITY HOSPITAL   (Germany)

^c ASSISTANCE PUBLIQUE HÔPITAUX DE PARIS   (France)

^d INSERM   (France)

^e SORBONNE UNIVERSITÉ   (France)

^f UNIVERSITY OF OSLO   (Norway)

^g UNIVERSITY HOSPITAL SCHLESWIG HOLSTEIN   (Germany)

^h JOHANNES GUTENBERG UNIVERSITY   (Germany)

ⁱ RUHR UNIVERSITY BOCHUM   (Germany)

^j OSLO UNIVERSITY HOSPITAL   (Norway)

more..

Author keywords

hereditary spastic paraplegia; SLC33A1; SPG42

Indexed keywords

MEMBRANE PROTEIN; PROTEIN ATL1; PROTEIN REEP1; PROTEIN SLC33A1; UNCLASSIFIED DRUG;

ARTICLE; CONTROLLED STUDY; COPY NUMBER VARIATION; GENE MUTATION; GENE SEQUENCE; GENETIC SCREENING; HEREDITARY MOTOR SENSORY NEUROPATHY; HUMAN; MAJOR CLINICAL STUDY; MULTIPLEX LIGATION DEPENDENT PROBE AMPLIFICATION; PRIORITY JOURNAL;

EID: 77955984633     PISSN: 10184813     EISSN: 14765438     Source Type: Journal    
DOI: 10.1038/ejhg.2010.68     Document Type: Article

References (22)

1. Fink JK: Hereditary spastic paraplegia. Curr Neurol Neurosci Rep 2006; 6: 65-76.
2. Depienne C, Stevanin G, Brice A, Durr A: Hereditary spastic paraplegias: an update. Curr Opin Neurol 2007; 20: 674-680.
3. Harding AE: Classification of the hereditary ataxias and paraplegias. Lancet 1983; 1: 1151-1155.
4. Salinas S, Proukakis C, Crosby A, Warner TT: Hereditary spastic paraplegia: clinical features and pathogenetic mechanisms. Lancet Neurol 2008; 7: 1127-1138.
5. Sauter SM, Engel W, Neumann LM, Kunze J, Neesen J: Novel mutations in the Atlastin gene (SPG3A) in families with autosomal dominant hereditary spastic paraplegia and evidence for late onset forms of HSP linked to the SPG3A locus. Hum Mutat 2004; 23: 98.
6. Schule R, Kremer BP, Kassubek J et al: SPG10 is a rare cause of spastic paraplegia in European families. J Neurol Neurosurg Psychiatry 2008; 79: 584-587.
7. Beetz C, Schule R, Deconinck T et al: REEP1 mutation spectrum and genotype/phenotype correlation in hereditary spastic paraplegia type 31. Brain 2008; 131 (Part 4): 1078-1086.
8. Hansen J, Svenstrup K, Ang D et al: A novel mutation in the HSPD1 gene in a patient with hereditary spastic paraplegia. J Neurol 2007; 254: 897-900.
9. Beetz C, Schule R, Klebe S et al: Screening of hereditary spastic paraplegia patients for alterations at NIPA1 mutational hotspots. J Neurol Sci 2008; 268: 131-135.
10. Lin P, Li J, Liu Q et al: A missense mutation in SLC33A1, which encodes the acetyl-CoA transporter, causes autosomal-dominant spastic paraplegia (SPG42). Am J Hum Genet 2008; 83: 752-759.
11. Hirabayashi Y, Kanamori A, Nomura KH, Nomura K: The acetyl-CoA transporter family SLC33. Pflugers Arch 2004; 447: 760-762.
12. Namekawa M, Ribai P, Nelson I et al: SPG3A is the most frequent cause of hereditary spastic paraplegia with onset before age 10 years. Neurology 2006; 66: 112-114.
13. Goizet C, Boukhris A, Mundwiller E et al: Complicated forms of autosomal dominant hereditary spastic paraplegia are frequent in SPG10. Hum Mutat 2009; 30: E376-E385.
14. Depienne C, Fedirko E, Forlani S et al: Exon deletions of SPG4 are a frequent cause of hereditary spastic paraplegia. J Med Genet 2007; 44: 281-284.
15. Schule R, Brandt E, Karle KN et al: Analysis of CYP7B1 in non-consanguineous cases of hereditary spastic paraplegia. Neurogenetics 2008; 10: 97-104.
16. Sherry ST, Ward MH, Kholodov M et al: dbSNP: the NCBI database of genetic variation. Nucleic Acids Res 2001; 29: 308-311.
17. Wittwer CT: High-resolution DNA melting analysis: advancements and limitations. Hum Mutat 2009; 30: 857-859.
18. Vossen RH, Aten E, Roos A, den Dunnen JT: High-resolution melting analysis (HRMA)-more than just sequence variant screening. Hum Mutat 2009; 30: 860-866.
19. Beetz C, Nygren AO, Schickel J et al: High frequency of partial SPAST deletions in autosomal dominant hereditary spastic paraplegia. Neurology 2006; 67: 1926-1930.
20. Ganesamoorthy D, Bruno DL, Schoumans J et al: Development of a multiplex ligation-dependent probe amplification assay for diagnosis and estimation of the frequency of spinocerebellar ataxia type 15. Clin Chem 2009; 55: 1415-1418.
21. Lander ES, Linton LM, Birren B et al: Initial sequencing and analysis of the human genome. Nature 2001; 409: 860-921.
22. Charbonnier F, Baert-Desurmont S, Liang P et al: The 5¢ region of the MSH2 gene involved in hereditary non-polyposis colorectal cancer contains a high density of recombinogenic sequences. Hum Mutat 2005; 26: 255-261.