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A large family with pure autosomal dominant hereditary spastic paraplegia from southern Italy mapping to chromosome 14q11.2-q24.3 |
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| Authors: | Muglia Maria Magariello Angela Nicoletti Giuseppe Patitucci Alessandra Gabriele Anna Lia Conforti Francesca Luisa Mazzei Rosalucia Caracciolo Manuela Casari Giorgio Ardito Bonaventura Lastilla Marcello Gambardella Antonio Quattrone Aldo |
| Affiliation: | (1) Institute of Neurological Sciences, National Research Council, Piano Lago di Mangone, Cosenza, Italy, IT;(2) Stem Cells Research Institute, Hospital “San Raffaele”, Milano, Italy, IT;(3) Depment of Neurology, Hospital “miulli”, Acquaviva delle Fonti (BA), Italy, IT;(4) Cattedra ed U. O. di Neurologia, Facoltà di Medicina e Chirurgia, Università “Magna Graecia”, Via Tommaso Campanella, 88100 Catanzaro, Italy. neurol.unicz@interbusiness.it, IT |
| Abstract: | A large Italian pedigree from southern Italy with autosomal dominant uncomplicated spastic paraplegia is reported. The clinical picture was uniform and characterized by insidiously progressive lower extremity weakness and spasticity. The mean age at onset of symptoms was 8.3 years. Significant linkage to the SPG3 locus on chromosome 14 was detected. The authors also report their search for mutations in a gene located in the region and its exclusion as a candidate for SPG3. Received: 14 November 2001, Received in revised form: 8 April 2002, Accepted: 23 April 2002 Correspondence to A. Quattrone, MD |
| Keywords: | hereditary spastic paraplegia linkage candidate gene |
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