Spastic paraplegia in Romania: High prevalence of SPG4 mutations

Journal of Neurology, Neurosurgery and Psychiatry

Volumn 79, Issue 5, 2008, Pages 606-607

  Orlacchio, Antonio ^a,b   Patrono, C ^a   Borreca, A ^a,b   Babalini, C ^a   Bernardi, G ^a,b   Kawarai, T ^c  

^a IRCCS FONDAZIONE SANTA LUCIA   (Italy)

^b UNIVERSITY OF ROME TOR VERGATA   (Italy)

^c Hyogo Brain and Heart Center ^*  (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

CLINICAL ARTICLE; CLINICAL FEATURE; CONTROLLED STUDY; GENE; GENE MUTATION; HUMAN; LETTER; PHENOTYPE; PREVALENCE; PRIORITY JOURNAL; ROMANIA; SEQUENCE ANALYSIS; SPASTIC PARAPLEGIA; SPG4 GENE; ADULT; AGED; CHROMOSOME ABERRATION; CHROMOSOME DELETION; CROSS-SECTIONAL STUDY; DOMINANT GENE; FEMALE; FRAMESHIFT MUTATION; GENE EXPRESSION REGULATION; GENETICS; HEREDITARY MOTOR SENSORY NEUROPATHY; HETEROZYGOTE DETECTION; MALE; MIDDLE AGED; MISSENSE MUTATION; NUCLEOTIDE SEQUENCE; ONSET AGE; POPULATION GENETICS; RNA SPLICING; STOP CODON;

ADENOSINE TRIPHOSPHATASE; SPAST PROTEIN, HUMAN;

ADENOSINE TRIPHOSPHATASES; ADULT; AGE OF ONSET; AGED; CHROMOSOME ABERRATIONS; CHROMOSOME DELETION; CODON, NONSENSE; CROSS-SECTIONAL STUDIES; DNA MUTATIONAL ANALYSIS; FEMALE; FRAMESHIFT MUTATION; GENES, DOMINANT; GENETICS, POPULATION; HETEROZYGOTE DETECTION; HUMANS; MALE; MIDDLE AGED; MUTAGENESIS, INSERTIONAL; MUTATION, MISSENSE; PHENOTYPE; RNA SPLICE SITES; SPASTIC PARAPLEGIA, HEREDITARY;

EID: 42449112452     PISSN: 00223050     EISSN: 1468330X     Source Type: Journal    
DOI: 10.1136/jnnp.2007.128827     Document Type: Letter

References (5)

1. Orlacchio A, Patrono C, Orlacchio A, et al. Clinical and genetic studies in hereditary spastic paraplegia. Invited Experts of the Sociedad Iberoamericana de Información Científica (SIIC) En Internet. 2006. available at: http://www.siicsalud.com/dato/dat051/06d13002. htm (accessed Dec 15, 2006).
2. Hazan J, Fonknechten N, Mavel D, et al. Spastin, a new AAA protein, is altered in the most frequent form of autosomal dominant spastic paraplegia. Nat Genet 1999;23:296-303.
3. Fonknechten N, Mavel D, Byrne P, et al. Spectrum of SPG4 mutations in autosomal dominant spastic paraplegia. Hum Mol Genet 2000;9:637-44.
4. White SR, Evans KJ, Lary J, et al. Recognition of C-terminal amino acids in tubulin by pore loops in Spastin is important for microtubule severing. J Cell Biol 2007;176:995-1005.
5. Orlacchio A, Kawarai T, Rogaeva E, et al. Clinical and genetic study of a large Italian family linked to SPG12 locus. Neurology 2002;59:1395-402.