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Start Over Author "FUSCO M" Journal neurological sciences
3 results on '"FUSCO M"'

3. Autosomal dominant hereditary spastic paraplegia: report of a large italian family with R581X spastin mutation

Author

G. Savettieri, Paolo Ragonese, M. De Fusco, Giorgio Casari, D. Lo Coco, Giuseppe Salemi, Paolo Aridon, ARIDON P, RAGONESE P, DE FUSCO M, LO COCO D, SALEMI G, CASARI G, SAVETTIERI G, Aridon, P, Ragonese, P, De Fusco, M, Lo Coco, D, Salemi, G, Casari, GIORGIO NEVIO, Savettieri, G., Aridon P., Ragonese P, Melone, M, and Casari, G

Subjects
Adult, Male, Spastin, Genotype, Sequence analysis, Hereditary spastic paraplegia, DNA Mutational Analysis, Nonsense mutation, Locus (genetics), Dermatology, Biology, Arginine, Exon, Hereditary spastic paraplegia Spastin Neurological disease, medicine, Humans, Gene, Aged, Adenosine Triphosphatases, Family Health, Genetics, Spastic Paraplegia, Hereditary, General Medicine, Middle Aged, medicine.disease, Molecular biology, Penetrance, Psychiatry and Mental health, Italy, Mutation, Female, Neurology (clinical), Lod Score
Abstract

We describe a large kindred with a typical pure form of autosomal dominant hereditary spastic paraplegia (ADHSP). On the basis of maximum LOD score of 1.94 at theta (max)=0 with marker D2S367, we obtained suggestive evidence for linkage of ADHSP to SPG4 locus. Denaturing high-performance liquid chromatography (DHPLC) and direct sequence analysis allowed us to identify a nonsense mutation (1741* C > T) in exon 17 of the Spastin gene. This transition, carried by all the affected family members and two apparently healthy individuals, lead to truncation of the last 36 amino acids in the C-terminus of the protein. These results confirm the existence of mutation in the SPG4 gene with a reduced penetrance, indicating that other genetic or environmental factors are required to trigger full-blown disease.

Published
2007

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