Autosomal dominant hereditary spastic paraplegia: Report of a large Italian family with R581X spastin mutation

Neurological Sciences

Volumn 28, Issue 4, 2007, Pages 171-174

  Aridon, P ^a,b   Ragonese, P ^b   De Fusco, M ^a   Lo Coco, D ^b   Salemi, G ^b   Casari, G ^a,c   Savettieri, G ^b  

^a SAN RAFFAELE HOSPITAL   (Italy)

^b UNIVERSITY OF PALERMO   (Italy)

^c VITA SALUTE SAN RAFFAELE UNIVERSITY   (Italy)

Author keywords

Hereditary spastic paraplegia; Neurological disease; Spastin

Indexed keywords

CYTOSINE; MESSENGER RNA; SPASTIN; THYMINE;

ADULT; AGED; ARTICLE; AUTOSOMAL DOMINANT DISORDER; CARBOXY TERMINAL SEQUENCE; CLINICAL ARTICLE; CONTROLLED STUDY; DENATURING HIGH PERFORMANCE LIQUID CHROMATOGRAPHY; EXON; FAMILY STUDY; FEMALE; GENE LOCUS; HEREDITARY MOTOR SENSORY NEUROPATHY; HEREDITY; HUMAN; ITALY; LINKAGE ANALYSIS; MALE; MUTATIONAL ANALYSIS; NONSENSE MUTATION; NUCLEIC ACID BASE SUBSTITUTION; NUCLEOTIDE SEQUENCE; PENETRANCE; SEQUENCE ANALYSIS;

ADENOSINE TRIPHOSPHATASES; ADULT; AGED; ARGININE; DNA MUTATIONAL ANALYSIS; FAMILY HEALTH; FEMALE; GENOTYPE; HUMANS; ITALY; LOD SCORE; MALE; MIDDLE AGED; MUTATION; SPASTIC PARAPLEGIA, HEREDITARY;

EID: 34547935395     PISSN: 15901874     EISSN: None     Source Type: Journal    
DOI: 10.1007/s10072-007-0815-z     Document Type: Article

References (14)

1. Fink JK (1997) Advances in hereditary spastic paraplegia. Curr Opin Neurol 10:313-318
2. Orlacchio A, Kawarai T, Totaro A et al (2004) Hereditary spastic paraplegia: Clinical genetic study of 15 families. Arch Neurol 61:849-855
3. Santorelli FM, Patrono C, Fortini D et al (2000) Intrafamilial variability in hereditary spastic paraplegia associated with an SPG4 gene mutation. Neurology 55:702-705
4. Fink JK (2003) Advances in the hereditary spastic paraplegias. Exp Neurol 184[Suppl 1]:S106-S110
5. Harding AE (1983) Classification of the hereditary ataxias and paraplegias. Lancet 1:1151-1155
6. Patrono C, Scarano V, Cricchi F et al (2005) Autosomal dominant hereditary spastic paraplegia: DHPLC-based mutation analysis of SPG4 reveals eleven novel mutations. Hum Mutat 25:506
7. Hazan J, Fonknechten N, Mavel D et al (1999) Spastin, a new AAA protein, is altered in the most frequent form of autosomal dominant spastic paraplegia. Nat Genet 23:296-303.
8. Confalonieri F, Duguet M (1995) A 200-amino acid ATPase module in search of a basic function. Bioessays 17:639-650
9. Patel S, Latterich M (1998) The AAA team: Related ATPases with diverse functions. Trends Cell Biol 8:65-71
10. Errico A, Ballabio A, Rugarli EI (2002) Spastin, the protein mutated in autosomal dominant hereditary spastic paraplegia, is involved in microtubule dynamics. Hum Mol Genet 11:153-163
11. Lathrop GM, Lalouel JM (1984) Easy calculations of lod scores and genetic risks on small computers. Am J Hum Genet 36:460-465
12. Magariello A, Muglia M, Patitucci A et al (2006) Novel spastin (SPG4) mutations in Italian patients with hereditary spastic paraplegia. Neuromusc Disord 16:387-390
13. Winner B, Gross C, Uyanik G et al (2005) Thin corpus callosum and amyotrophy in spastic paraplegia - case report and review of literature. Clin Neurol Neurosurg 108:692-698
14. Depienne C, Tallaksen C, Lephay JY et al (2006) Spastin mutations are frequent in sporadic spastic paraparesis and their spectrum is different from that observed in familial cases. J Med Genet 43:259-265