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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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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.

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Authors and Affiliations

  1. Institute of Neurological Sciences, National Research Council, Piano Lago di Mangone, Cosenza, Italy, , , , , , IT

    Maria Muglia, Angela Magariello, Giuseppe Nicoletti, Alessandra Patitucci, Anna Lia Gabriele, Francesca Luisa Conforti, Rosalucia Mazzei, Manuela Caracciolo, Antonio Gambardella & Aldo Quattrone

  2. Stem Cells Research Institute, Hospital “San Raffaele”, Milano, Italy, , , , , , IT

    Giorgio Casari

  3. Depment of Neurology, Hospital “miulli”, Acquaviva delle Fonti (BA), Italy, , , , , , IT

    Bonaventura Ardito & Marcello Lastilla

Authors
  1. Maria Muglia
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  2. Angela Magariello
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  3. Giuseppe Nicoletti
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  4. Alessandra Patitucci
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  5. Anna Lia Gabriele
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  6. Francesca Luisa Conforti
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  7. Rosalucia Mazzei
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  8. Manuela Caracciolo
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  9. Giorgio Casari
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  10. Bonaventura Ardito
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  11. Marcello Lastilla
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  12. Antonio Gambardella
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  13. Aldo Quattrone
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Additional information

Received: 14 November 2001, Received in revised form: 8 April 2002, Accepted: 23 April 2002

Correspondence to A. Quattrone, MD

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Muglia, M., Magariello, A., Nicoletti, G. et al. A large family with pure autosomal dominant hereditary spastic paraplegia from southern Italy mapping to chromosome 14q11.2-q24.3. J Neurol 249, 1413–1416 (2002). https://doi.org/10.1007/s00415-002-0856-4

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  • DOI: https://doi.org/10.1007/s00415-002-0856-4

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