Michel Sáenz-Farret1, Anthony E Lang1,2, Lorraine Kalia1,2, Inês Cunha3, Mário Sousa1, Greg Kuhlman1, Christos Ganos4, Renato P Munhoz1, Alfonso Fasano1,2, Carlos Eduardo Piña-Avilés5, Carlos Zúñiga-Ramírez6. 1. Edmond J. Safra Program in Parkinson's Disease and Morton and Gloria Shulman Movement Disorders Clinic, Toronto Western Hospital and Division of Neurology, UHN, Division of Neurology University of Toronto Toronto Ontario Canada. 2. Krembil Brain Institute Toronto Ontario Canada. 3. Neurology Department Coimbra Hospital and Universitary Centre Coimbra Portugal. 4. Department of Neurology, Charité University Medicine Berlin Berlin Germany. 5. Department of Genetics Hospital Civil de Guadalajara "Fray Antonio Alcalde" Guadalajara Mexico. 6. Movement Disorders and Neurodegenerative Diseases Unit Hospital Civil de Guadalajara "Fray Antonio Alcalde" Guadalajara Mexico.
Abstract
Background: Spastic paraplegia type 7 (SPG7) mutations can present either as a pure form or a complex phenotype with movement disorders. Objective: Describe the main features of subjects with SPG7 mutations associated with movement disorders. Methods: We analyzed the clinical and paraclinical information of subjects with SPG7 mutations associated with movement disorders. Results: Sixteen affected subjects from 11 families were identified. Male sex predominated (10 of 16) and the mean age at onset was 41.25 ± 16.1 years. A cerebellar syndrome was the most frequent clinical movement disorder phenotype (7 of 16); however, parkinsonism (2 of 16), dystonia (1 of 16), and mixed phenotypes between them were also seen. The "ears of the lynx" sign was found in four subjects. A total of nine SPG7 variants were found, of which the most frequent was the c.1529C > T (p.Ala510Val). Conclusion: This case series expands the motor phenotype associated with SPG7 mutations. Clinicians must consider this entity in single or familial cases with combined movement disorders.
Background: Spastic paraplegia type 7 (SPG7) mutations can present either as a pure form or a complex phenotype with movement disorders. Objective: Describe the main features of subjects with SPG7 mutations associated with movement disorders. Methods: We analyzed the clinical and paraclinical information of subjects with SPG7 mutations associated with movement disorders. Results: Sixteen affected subjects from 11 families were identified. Male sex predominated (10 of 16) and the mean age at onset was 41.25 ± 16.1 years. A cerebellar syndrome was the most frequent clinical movement disorder phenotype (7 of 16); however, parkinsonism (2 of 16), dystonia (1 of 16), and mixed phenotypes between them were also seen. The "ears of the lynx" sign was found in four subjects. A total of nine SPG7 variants were found, of which the most frequent was the c.1529C > T (p.Ala510Val). Conclusion: This case series expands the motor phenotype associated with SPG7 mutations. Clinicians must consider this entity in single or familial cases with combined movement disorders.
Authors: José Luiz Pedroso; Thiago Cardoso Vale; Fabiana Lucas Bueno; Victor Hugo Rocha Marussi; Lázaro Luís Faria do Amaral; Marcondes C França; Orlando G Barsottini Journal: Parkinsonism Relat Disord Date: 2017-12-11 Impact factor: 4.891
Authors: C Settasatian; S A Whitmore; J Crawford; R L Bilton; A M Cleton-Jansen; G R Sutherland; D F Callen Journal: Hum Genet Date: 1999 Jul-Aug Impact factor: 4.132
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
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
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