Novel spastin (SPG4) mutations in Italian patients with hereditary spastic paraplegia

Neuromuscular Disorders

Volumn 16, Issue 6, 2006, Pages 387-390

  Magariello, Angela ^a   Muglia, Maria ^a   Patitucci, Alessandra ^a   Mazzei, Rosalucia ^a   Conforti, Francesca Luisa ^a   Gabriele, Anna Lia ^a   Sprovieri, Teresa ^a   Ungaro, Carmine ^a   Gambardella, Antonio ^b   Mancuso, Michelangelo ^c   Siciliano, Gabriele ^c   Branca, Damiano ^d   Aguglia, Umberto ^d   de Angelis, Maria Vittoria ^e   Longo, Katia ^f   Quattrone, Aldo ^a,b  

^a INSTITUTE OF NEUROLOGICAL SCIENCES   (Italy)

^b UNIVERSITY MAGNA GRAECIA OF CATANZARO   (Italy)

^c UNIVERSITY OF PISA   (Italy)

^d Unit of Neurology   (Italy)

^e UNIVERSITY OF CHIETI   (Italy)

^f UNIVERSITY OF NAPLES FEDERICO II   (Italy)

Author keywords

DHPLC; Hereditary spastic paraplegia; Spastin; SPG4

Indexed keywords

SPASTIN;

ADULT; AGED; ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; CLINICAL ARTICLE; CONTROLLED STUDY; DENATURING HIGH PERFORMANCE LIQUID CHROMATOGRAPHY; DNA SEQUENCE; ETHNIC GROUP; EXON; FEMALE; FRAMESHIFT MUTATION; GENE MUTATION; GENETIC SCREENING; HEREDITARY MOTOR SENSORY NEUROPATHY; HUMAN; MALE; MISSENSE MUTATION; NONSENSE MUTATION; NUCLEOTIDE SEQUENCE; PHENOTYPE; PRIORITY JOURNAL; RNA SPLICING;

ADENOSINE TRIPHOSPHATASES; ADULT; CHILD; CHROMATOGRAPHY, HIGH PRESSURE LIQUID; FEMALE; FRAMESHIFT MUTATION; HUMANS; ITALY; MALE; MIDDLE AGED; MUTATION, MISSENSE; PARAPLEGIA;

EID: 33745002458     PISSN: 09608966     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.nmd.2006.03.009     Document Type: Article

References (13)

1. Harding A.E., and Thomas P.K. Hereditary distal spinal muscular atrophy. A report on 34 cases and a review of the literature. J Neurol Sci 45 (1980) 337-348
2. Fink J.K. Advances in the hereditary spastic paraplegias. Exp Neurol 184 Suppl. 1 (2003) S106-S110
3. 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 23 (1999) 296-303
4. Ciccarelli F.D., Proukakis C., Patel H., et al. The identification of a conserved domain in both spartin and spastin, mutated in hereditary spastic paraplegia. Genomics 81 (2003) 437-441
5. Lindsey J.C., Lusher M.E., McDermott C.J., et al. Mutation analysis of the spastin gene (SPG4) in patients with hereditary spastic paraparesis. J Med Genet 37 (2000) 759-765
6. Burger J., Fonknechten N., Hoeltzenbein, et al. Hereditary spastic paraplegia caused by mutations in the SPG4 gene. Eur J Hum Genet 8 (2000) 771-776
7. Fonknechten N., Mavel D., Byrne P., et al. Spectrum of SPG4 mutations in autosomal dominant spastic paraplegia. Hum Mol Genet 9 (2000) 637-644
8. Depienne C., Tallaksen C., Lephay J.Y., et al. Spastin mutations are frequent in sporadic spastic paraparesis and their spectrum is different from the one observed in familial cases. J Med Genet July (2005)
9. Patrono C., Scarano V., Cricchi F., et al. Autosomal dominant hereditary spastic paraplegia: DHPLC-based mutation analysis of SPG4 reveals eleven novel mutations. Hum Mutat 25 (2005) 506
10. Sauter S., Miterski B., Klimpe S., et al. Mutation analysis of the spastin gene (SPG4) in patients in Germany with autosomal dominant hereditary spastic paraplegia. Hum Mutat 20 (2002) 127-132
11. Yabe I., Sasaki H., Tashiro K., Matsuura T., Takegami T., and Satoh T. Spastin gene mutation in Japanese with hereditary spastic paraplegia. J Med Genet 39 (2002) e46
12. Park S.Y., Ki C.S., Kim H.J., et al. Mutation analysis of SPG4 and SPG3A genes and its implication in molecular diagnosis of Korean patients with hereditary spastic paraplegia. Arch Neurol 62 (2005) 1118-1121
13. Santorelli F.M., Patrono C., Fortini D., et al. Intrafamilial variability in hereditary spastic paraplegia associated with an SPG4 gene mutation. Neurology 55 (2000) 702-705