Warning: Undefined array key "mm" in /www/wwwroot/www.ai-bt.com/si.php on line 10 Deprecated: trim(): Passing null to parameter #1 ($string) of type string is deprecated in /www/wwwroot/www.ai-bt.com/si.php on line 10 SPG3A is the most frequent cause of hereditary spastic paraplegia with onset before age 10 years.

Literature DB >> 16401858

SPG3A is the most frequent cause of hereditary spastic paraplegia with onset before age 10 years.

M Namekawa¹, P Ribai, I Nelson, S Forlani, F Fellmann, C Goizet, C Depienne, G Stevanin, M Ruberg, A Dürr, A Brice.

Abstract

Seven families with six different SPG3A mutations were identified among 106 with autosomal dominant hereditary spastic paraplegia (HSP). Two mutations were novel (T162P, C375R). SPG3A was twice as frequent as SPG4 in patients with onset before age 10 years (31.8%). Later onset was not observed. The phenotype was pure HSP, but disease duration was longer than in non-SPG3A/SPG4 patients, leading ultimately to greater handicap.

Entities: Disease Gene Mutation Species

Mesh：

Substances：

Year: 2006 PMID： 16401858 DOI： 10.1212/01.wnl.0000191390.20564.8e

Source DB: PubMed Journal: Neurology ISSN： 0028-3878 Impact factor: 9.910

Keyword Cloud
Cited

37 in total

1. A founder effect and mutational hot spots may contribute to the most frequent mutations in the SPG3A gene.

Authors: Michito Namekawa; Isabelle Nelson; Pascale Ribai; Alexandra Dürr; Elodie Denis; Giovanni Stevanin; Merle Ruberg; Alexis Brice
Journal: Neurogenetics Date: 2006-04-13 Impact factor: 2.660

2. NIPA1 (SPG6) mutations are a rare cause of autosomal dominant spastic paraplegia in Europe.

Authors: Stephan Klebe; Arnaud Lacour; Alexandra Durr; Tanya Stojkovic; Christel Depienne; Sylvie Forlani; Sandrine Poea-Guyon; Isabelle Vuillaume; Bernard Sablonniere; Patrick Vermersch; Alexis Brice; Giovanni Stevanin
Journal: Neurogenetics Date: 2007-01-05 Impact factor: 2.660

Review 3. 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

4. Extending the clinical spectrum of SPG3A mutations to a very severe and very early complicated phenotype.

Authors: J Haberlová; K G Claeys; J Zámecník; P De Jonghe; P Seeman
Journal: J Neurol Date: 2008-04-30 Impact factor: 4.849

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

Authors: Maria Fulvia de Leva; Alessandro Filla; Chiara Criscuolo; Alessandra Tessa; Sabina Pappatà; Mario Quarantelli; Leonilda Bilo; Silvio Peluso; Antonella Antenora; Dario Longo; Filippo M Santorelli; Giuseppe De Michele
Journal: J Neurol Date: 2009-09-19 Impact factor: 4.849

6. Molecular epidemiology and clinical spectrum of hereditary spastic paraplegia in the Japanese population based on comprehensive mutational analyses.

Authors: Hiroyuki Ishiura; Yuji Takahashi; Toshihiro Hayashi; Kayoko Saito; Hirokazu Furuya; Mitsunori Watanabe; Miho Murata; Mikiya Suzuki; Akira Sugiura; Setsu Sawai; Kazumoto Shibuya; Naohisa Ueda; Yaeko Ichikawa; Ichiro Kanazawa; Jun Goto; Shoji Tsuji
Journal: J Hum Genet Date: 2014-01-23 Impact factor: 3.172

SPG3A is the most frequent cause of hereditary spastic paraplegia with onset before age 10 years.

1. A founder effect and mutational hot spots may contribute to the most frequent mutations in the SPG3A gene.

2. NIPA1 (SPG6) mutations are a rare cause of autosomal dominant spastic paraplegia in Europe.

Review 3. Recent advances in the genetics of spastic paraplegias.

4. Extending the clinical spectrum of SPG3A mutations to a very severe and very early complicated phenotype.

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

6. Molecular epidemiology and clinical spectrum of hereditary spastic paraplegia in the Japanese population based on comprehensive mutational analyses.

7. Late-onset hereditary spastic paraplegia with thin corpus callosum caused by a new SPG3A mutation.

8. De novo mutations in SPG3A: a challenge in differential diagnosis and genetic counselling.

9. Structural basis for conformational switching and GTP loading of the large G protein atlastin.

10. Atlastin GTPases are required for Golgi apparatus and ER morphogenesis.