Mutation analysis of the SPG4 gene in Italian patients with pure and complicated forms of spastic paraplegia

6533b7d8fe1ef96bd1269b12

RESEARCH PRODUCT

Mutation analysis of the SPG4 gene in Italian patients with pure and complicated forms of spastic paraplegia

Luigi Citrigno Luigi Citrigno Francesca Luisa Conforti Teresa Sprovieri Mario Zappia Michelangelo Mancuso Maria Liguori Carmine Ungaro Franco Iemolo Alessandra Patitucci Antonio Gambardella Tommaso Piccoli Angela Magariello Rosalucia Mazzei Maria Muglia A. L. Gabriele Francesco Bono Francesco Patti Aldo Quattrone

subject

Male Spastin DNA Mutational Analysis Hereditary spastic paraplegia EXON DELETIONS Gene mutation medicine.disease_cause Spastin FAMILIES Cohort Studies Exon Genotype Spastic Mutation frequency Child 3' Untranslated Regions Chromatography High Pressure Liquid Adenosine Triphosphatases Genetics Mutation Hereditary spastic paraplegia SPG4 Reverse Transcriptase Polymerase Chain Reaction Mutation analysi Exons Middle Aged MLPA Phenotype Mutation analysis Italy Neurology Settore MED/26 - Neurologia Female Adult Adolescent Genotype Hereditary spastic paraplegia 3 ' UTR 3′ UTR Mutation Missense FREQUENT SPG4 CLASSIFICATION Young Adult medicine Humans Aged Paraplegia SPECTRUM business.industry medicine.disease Neurology (clinical)business COLLECTION EXPRESSION ANALYSIS Gene Deletion

description

Mutations in the SPG4 gene are the most common causes of hereditary spastic paraplegia (HSP) accounting for up to 40% of autosomal dominant (AD) forms and 12-18% of sporadic cases. The phenotype associated with HSP due to mutations in the SPG4 gene tends to be pure. There is increasing evidence, however, of patients with complicated forms of spastic paraplegia in which SPG4 mutations were identified. A cohort of 38 unrelated Italian patients with spastic paraplegia, of which 24 had a clear dominant inheritance and 14 were apparently sporadic, were screened for mutations in the SPG4 gene.We identified 11 different mutations, six of which were novel (p.Glu143GlyfsX8, p.Tyr415X, p.Asp548Asn, c.1656_1664delinsTGACCT, c.1688-3C>G and c.*2G>T) and two exon deletions previously reported. The overall rate of SPG4 gene mutation in our patients was 36.8% (14/38); in AD-HSP we observed a mutation frequency of 45.8% (11/24), in sporadic cases the frequency was 21.4% (3/14). Furthermore, we found a mutational rate of 22.2% (2/9) and 41.4% (12/29) in the complicated and pure forms, respectively. The results underlie the importance of genetic testing in all affected individuals.

year	journal	country	edition	language
2010-01-15

10.1016/j.jns.2009.09.025 https://cris.maastrichtuniversity.nl/en/publications/2f1fec0e-1dca-435f-9b8c-65075a3e947e