Literature DB >> 19768483

Complex phenotype in an Italian family with a novel mutation in SPG3A.

Maria Fulvia de Leva1, Alessandro Filla, Chiara Criscuolo, Alessandra Tessa, Sabina Pappatà, Mario Quarantelli, Leonilda Bilo, Silvio Peluso, Antonella Antenora, Dario Longo, Filippo M Santorelli, Giuseppe De Michele.   

Abstract

Mutations in the SPG3A gene represent a significant cause of autosomal dominant hereditary spastic paraplegia with early onset and pure phenotype. We describe an Italian family manifesting a complex phenotype, characterized by cerebellar involvement in the proband and amyotrophic lateral sclerosis-like syndrome in her father, in association with a new mutation in SPG3A. Our findings further widen the notion of clinical heterogeneity in SPG3A mutations.

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Year:  2009        PMID： 19768483     DOI： 10.1007/s00415-009-5311-3

Source DB:  PubMed          Journal:  J Neurol        ISSN： 0340-5354            Impact factor:   4.849


  15 in total

1.  The R495W mutation in SPG3A causes spastic paraplegia associated with axonal neuropathy.

Authors:  Valentina Scarano; Pietro Mancini; Chiara Criscuolo; Giuseppe De Michele; Carlo Rinaldi; Tecla Tucci; Alessandra Tessa; Filippo M Santorelli; Anna Perretti; Lucio Santoro; Alessandro Filla
Journal:  J Neurol       Date:  2005-03-08       Impact factor: 4.849

Review 2.  Recent advances in the genetics of spastic paraplegias.

Authors:  Giovanni Stevanin; Merle Ruberg; Alexis Brice
Journal:  Curr Neurol Neurosci Rep       Date:  2008-05       Impact factor: 5.081

3.  Early-onset ALS with long-term survival associated with spastin gene mutation.

Authors:  T Meyer; A Schwan; J S Dullinger; J Brocke; K-T Hoffmann; C H Nolte; A Hopt; U Kopp; P Andersen; J T Epplen; P Linke
Journal:  Neurology       Date:  2005-07-12       Impact factor: 9.910

4.  Clinical features of hereditary spastic paraplegia due to spastin mutation.

Authors:  C J McDermott; C E Burness; J Kirby; L E Cox; D G Rao; C Hewamadduma; B Sharrack; M Hadjivassiliou; P F Chinnery; A Dalton; P J Shaw
Journal:  Neurology       Date:  2006-07-11       Impact factor: 9.910

5.  Hereditary spastic paraplegia with cerebellar ataxia: a complex phenotype associated with a new SPG4 gene mutation.

Authors:  J E Nielsen; B Johnsen; P Koefoed; K H Scheuer; M Grønbech-Jensen; I Law; K Krabbe; A Nørremølle; H Eiberg; H Søndergård; M Dam; J F Rehfeld; C Krarup; O B Paulson; L Hasholt; S A Sørensen
Journal:  Eur J Neurol       Date:  2004-12       Impact factor: 6.089

6.  Spastin mutations in sporadic adult-onset upper motor neuron syndromes.

Authors:  Frans Brugman; John H J Wokke; Hans Scheffer; Martina H A Versteeg; Erik A Sistermans; Leonard H van den Berg
Journal:  Ann Neurol       Date:  2005-12       Impact factor: 10.422

7.  Autosomal dominant hereditary spastic paraplegia: DHPLC-based mutation analysis of SPG4 reveals eleven novel mutations.

Authors:  Clarice Patrono; Valentina Scarano; Federica Cricchi; Mariarosa A B Melone; Maria Chiriaco; Alessandro Napolitano; Alessandro Malandrini; Giuseppe De Michele; Lucia Petrozzi; Carlo Giraldi; Lucio Santoro; Serena Servidei; Carlo Casali; Alessandro Filla; Filippo M Santorelli
Journal:  Hum Mutat       Date:  2005-05       Impact factor: 4.878

8.  High frequency of partial SPAST deletions in autosomal dominant hereditary spastic paraplegia.

Authors:  C Beetz; A O H Nygren; J Schickel; M Auer-Grumbach; K Bürk; G Heide; J Kassubek; S Klimpe; T Klopstock; F Kreuz; S Otto; R Schüle; L Schöls; A-D Sperfeld; O W Witte; T Deufel
Journal:  Neurology       Date:  2006-10-11       Impact factor: 9.910

9.  A novel KIF5A/SPG10 mutation in spastic paraplegia associated with axonal neuropathy.

Authors:  Alessandra Tessa; Gabriella Silvestri; Maria Fulvia de Leva; Anna Modoni; Paola S Denora; Marcella Masciullo; M Teresa Dotti; Carlo Casali; Mariarosa A B Melone; Antonio Federico; Alessandro Filla; Filippo M Santorelli
Journal:  J Neurol       Date:  2008-06-02       Impact factor: 4.849

10.  Hereditary spastic paraplegia: clinical genetic study of 15 families.

Authors:  Antonio Orlacchio; Toshitaka Kawarai; Antonio Totaro; Alessia Errico; Peter H St George-Hyslop; Elena I Rugarli; Giorgio Bernardi
Journal:  Arch Neurol       Date:  2004-06
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  2 in total

1.  VCP and ATL1 regulate endoplasmic reticulum and protein synthesis for dendritic spine formation.

Authors:  Yu-Tzu Shih; Yi-Ping Hsueh
Journal:  Nat Commun       Date:  2016-03-17       Impact factor: 14.919

2.  Clinical features and genotype-phenotype correlation analysis in patients with ATL1 mutations: A literature reanalysis.

Authors:  Guo-Hua Zhao; Xiao-Min Liu
Journal:  Transl Neurodegener       Date:  2017-04-04       Impact factor: 8.014
  2 in total

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