Literature DB >> 25034272

Early-onset optic neuropathy as initial clinical presentation in SPG7.

Christian Marcotulli1, Luca Leonardi, Alessandra Tessa, Anna Maria De Negris, Riccardo Cornia, Alberto Pierallini, Shalom Haggiag, Francesco Pierelli, Filippo M Santorelli, Carlo Casali.   

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Year:  2014        PMID： 25034272     DOI： 10.1007/s00415-014-7432-6

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


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  8 in total

1.  The Spastic Paraplegia Rating Scale (SPRS): a reliable and valid measure of disease severity.

Authors:  R Schüle; T Holland-Letz; S Klimpe; J Kassubek; T Klopstock; V Mall; S Otto; B Winner; L Schöls
Journal:  Neurology       Date:  2006-08-08       Impact factor: 9.910

Review 2.  Hereditary spastic paraplegias with autosomal dominant, recessive, X-linked, or maternal trait of inheritance.

Authors:  Josef Finsterer; Wolfgang Löscher; Stefan Quasthoff; Julia Wanschitz; Michaela Auer-Grumbach; Giovanni Stevanin
Journal:  J Neurol Sci       Date:  2012-05-01       Impact factor: 3.181

3.  Spastic paraplegia gene 7 in patients with spasticity and/or optic neuropathy.

Authors:  Stephan Klebe; Christel Depienne; Sylvie Gerber; Georges Challe; Mathieu Anheim; Perrine Charles; Estelle Fedirko; Elodie Lejeune; Julien Cottineau; Alfredo Brusco; Hélène Dollfus; Patrick F Chinnery; Cecilia Mancini; Xavier Ferrer; Guilhem Sole; Alain Destée; Jean-Michel Mayer; Bertrand Fontaine; Jérôme de Seze; Michel Clanet; Elisabeth Ollagnon; Philippe Busson; Cécile Cazeneuve; Giovanni Stevanin; Josseline Kaplan; Jean-Michel Rozet; Alexis Brice; Alexandra Durr
Journal:  Brain       Date:  2012-10       Impact factor: 13.501

4.  Genotype-phenotype correlations in spastic paraplegia type 7: a study in a large Dutch cohort.

Authors:  Koen L I van Gassen; Charlotte D C C van der Heijden; Susanne T de Bot; Wilfred F A den Dunnen; Leonard H van den Berg; Corien C Verschuuren-Bemelmans; H P H Kremer; Jan H Veldink; Erik-Jan Kamsteeg; Hans Scheffer; Bart P van de Warrenburg
Journal:  Brain       Date:  2012-09-10       Impact factor: 13.501

5.  Paraplegin mutations in sporadic adult-onset upper motor neuron syndromes.

Authors:  F Brugman; H Scheffer; J H J Wokke; W M Nillesen; M de Visser; E Aronica; J H Veldink; L H van den Berg
Journal:  Neurology       Date:  2008-09-17       Impact factor: 9.910

6.  A novel form of autosomal recessive hereditary spastic paraplegia caused by a new SPG7 mutation.

Authors:  T Warnecke; T Duning; A Schwan; H Lohmann; J T Epplen; P Young
Journal:  Neurology       Date:  2007-07-24       Impact factor: 9.910

7.  Mutations in the SPG7 gene cause chronic progressive external ophthalmoplegia through disordered mitochondrial DNA maintenance.

Authors:  Gerald Pfeffer; Gráinne S Gorman; Helen Griffin; Marzena Kurzawa-Akanbi; Emma L Blakely; Ian Wilson; Kamil Sitarz; David Moore; Julie L Murphy; Charlotte L Alston; Angela Pyle; Jon Coxhead; Brendan Payne; George H Gorrie; Cheryl Longman; Marios Hadjivassiliou; John McConville; David Dick; Ibrahim Imam; David Hilton; Fiona Norwood; Mark R Baker; Stephan R Jaiser; Patrick Yu-Wai-Man; Michael Farrell; Allan McCarthy; Timothy Lynch; Robert McFarland; Andrew M Schaefer; Douglass M Turnbull; Rita Horvath; Robert W Taylor; Patrick F Chinnery
Journal:  Brain       Date:  2014-04-10       Impact factor: 13.501

8.  Spastic paraplegia and OXPHOS impairment caused by mutations in paraplegin, a nuclear-encoded mitochondrial metalloprotease.

Authors:  G Casari; M De Fusco; S Ciarmatori; M Zeviani; M Mora; P Fernandez; G De Michele; A Filla; S Cocozza; R Marconi; A Dürr; B Fontaine; A Ballabio
Journal:  Cell       Date:  1998-06-12       Impact factor: 41.582
  8 in total
  4 in total

Review 1.  Hereditary Spastic Paraplegia: Clinical and Genetic Hallmarks.

Authors:  Paulo Victor Sgobbi de Souza; Wladimir Bocca Vieira de Rezende Pinto; Gabriel Novaes de Rezende Batistella; Thiago Bortholin; Acary Souza Bulle Oliveira
Journal:  Cerebellum       Date:  2017-04       Impact factor: 3.847

2.  SPG7 mutations explain a significant proportion of French Canadian spastic ataxia cases.

Authors:  Karine Choquet; Martine Tétreault; Sharon Yang; Roberta La Piana; Marie-Josée Dicaire; Megan R Vanstone; Jean Mathieu; Jean-Pierre Bouchard; Marie-France Rioux; Guy A Rouleau; Kym M Boycott; Jacek Majewski; Bernard Brais
Journal:  Eur J Hum Genet       Date:  2015-12-02       Impact factor: 4.246

Review 3.  Classification of Dystonia.

Authors:  Lazzaro di Biase; Alessandro Di Santo; Maria Letizia Caminiti; Pasquale Maria Pecoraro; Vincenzo Di Lazzaro
Journal:  Life (Basel)       Date:  2022-01-29

4.  A novel homozygous variant in the SPG7 gene presenting with childhood optic nerve atrophy.

Authors:  Kathrine O Eriksen; Andreas Reidar Wigers; Iselin Marie Wedding; Anne Kjersti Erichsen; Tuva Barøy; Kristoffer Søberg; Øystein Kalsnes Jørstad
Journal:  Am J Ophthalmol Case Rep       Date:  2022-02-16
  4 in total

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