Literature DB >> 34405107

Hereditary Spastic Paraplegia 7 Presenting as Multifocal Dystonia with Prominent Cranio-Cervical Involvement.

Marina Campins-Romeu1, Raquel Baviera-Muñoz1, Isabel Sastre-Bataller1, Luis Bataller1, Teresa Jaijo2, Irene Martínez-Torres1.   

Abstract

Entities:  

Keywords:  SPG7; hereditary paraplegia; multifocal dystonia

Year:  2021        PMID: 34405107      PMCID: PMC8354063          DOI: 10.1002/mdc3.13257

Source DB:  PubMed          Journal:  Mov Disord Clin Pract        ISSN: 2330-1619


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  10 in total

1.  Spasmodic Dysphonia in Hereditary Spastic Paraplegia Type 7.

Authors:  Devin Hall; Nicholas Stong; Natalie Lippa; Michael J Pitman; Seth L Pullman; Oren A Levy
Journal:  Mov Disord Clin Pract       Date:  2018-03-02

2.  Hereditary spastic paraplegia presenting as limb dystonia with a rare SPG7 mutation.

Authors:  Sara M Schaefer; Anna M Szekely; Jeremy J Moeller; Sule Tinaz
Journal:  Neurol Clin Pract       Date:  2018-12

3.  Parkinsonism and spastic paraplegia type 7: Expanding the spectrum of mitochondrial Parkinsonism.

Authors:  Beatriz De la Casa-Fages; Gorka Fernández-Eulate; Josep Gamez; Raúl Barahona-Hernando; Germán Morís; María García-Barcina; Jon Infante; Miren Zulaica; Uxoa Fernández-Pelayo; Mikel Muñoz-Oreja; Miguel Urtasun; Ander Olaskoaga; Victoria Zelaya; Ivonne Jericó; Raquel Saez-Villaverde; Irene Catalina; Emma Sola; Elena Martínez-Sáez; Aurora Pujol; Montserrat Ruiz; Agatha Schlüter; Antonella Spinazzola; Jose Luis Muñoz-Blanco; Francisco Grandas; Ian Holt; Victoria Álvarez; Adolfo López de Munaín
Journal:  Mov Disord       Date:  2019-08-21       Impact factor: 10.338

4.  Loss of paraplegin drives spasticity rather than ataxia in a cohort of 241 patients with SPG7.

Authors:  Giulia Coarelli; Rebecca Schule; Bart P C van de Warrenburg; Peter De Jonghe; Claire Ewenczyk; Andrea Martinuzzi; Matthis Synofzik; Elisa G Hamer; Jonathan Baets; Mathieu Anheim; Ludger Schöls; Tine Deconinck; Pegah Masrori; Bertrand Fontaine; Thomas Klockgether; Maria Grazia D'Angelo; Marie-Lorraine Monin; Jan De Bleecker; Isabelle Migeotte; Perrine Charles; Maria Teresa Bassi; Thomas Klopstock; Fanny Mochel; Elisabeth Ollagnon-Roman; Marc D'Hooghe; Christoph Kamm; Delia Kurzwelly; Melanie Papin; Claire-Sophie Davoine; Guillaume Banneau; Sophie Tezenas du Montcel; Danielle Seilhean; Alexis Brice; Charles Duyckaerts; Giovanni Stevanin; Alexandra Durr
Journal:  Neurology       Date:  2019-05-08       Impact factor: 9.910

Review 5.  Hereditary spastic paraplegia: from diagnosis to emerging therapeutic approaches.

Authors:  Samuel Shribman; Evan Reid; Andrew H Crosby; Henry Houlden; Thomas T Warner
Journal:  Lancet Neurol       Date:  2019-07-31       Impact factor: 44.182

6.  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

7.  Novel genotype-phenotype and MRI correlations in a large cohort of patients with SPG7 mutations.

Authors:  Channa A Hewamadduma; Nigel Hoggard; Ronan O'Malley; Megan K Robinson; Nick J Beauchamp; Ruta Segamogaite; Jo Martindale; Tobias Rodgers; Ganesh Rao; Ptolemaios Sarrigiannis; Priya Shanmugarajah; Panagiotis Zis; Basil Sharrack; Christopher J McDermott; Pamela J Shaw; Marios Hadjivassiliou
Journal:  Neurol Genet       Date:  2018-10-24

8.  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

Review 9.  Cerebellum: An explanation for dystonia?

Authors:  Matteo Bologna; Alfredo Berardelli
Journal:  Cerebellum Ataxias       Date:  2017-05-12

10.  Impaired proteasome activity and neurodegeneration with brain iron accumulation in FBXO7 defect.

Authors:  Marta Correa-Vela; Vincenzo Lupo; Marta Montpeyó; Paula Sancho; Anna Marcé-Grau; Jorge Hernández-Vara; Alejandra Darling; Alison Jenkins; Sandra Fernández-Rodríguez; Cristina Tello; Laura Ramírez-Jiménez; Belén Pérez; Ángel Sánchez-Montáñez; Alfons Macaya; María J Sobrido; Marta Martinez-Vicente; Belén Pérez-Dueñas; Carmen Espinós
Journal:  Ann Clin Transl Neurol       Date:  2020-08-06       Impact factor: 4.511

  10 in total
  1 in total

1.  Mutations, Genes, and Phenotypes Related to Movement Disorders and Ataxias.

Authors:  Dolores Martínez-Rubio; Isabel Hinarejos; Paula Sancho; Nerea Gorría-Redondo; Raquel Bernadó-Fonz; Cristina Tello; Clara Marco-Marín; Itxaso Martí-Carrera; María Jesús Martínez-González; Ainhoa García-Ribes; Raquel Baviera-Muñoz; Isabel Sastre-Bataller; Irene Martínez-Torres; Anna Duat-Rodríguez; Patrícia Janeiro; Esther Moreno; Leticia Pías-Peleteiro; Mar O'Callaghan Gordo; Ángeles Ruiz-Gómez; Esteban Muñoz; Maria Josep Martí; Ana Sánchez-Monteagudo; Candela Fuster; Amparo Andrés-Bordería; Roser Maria Pons; Silvia Jesús-Maestre; Pablo Mir; Vincenzo Lupo; Belén Pérez-Dueñas; Alejandra Darling; Sergio Aguilera-Albesa; Carmen Espinós
Journal:  Int J Mol Sci       Date:  2022-10-06       Impact factor: 6.208

  1 in total

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