Literature DB >> 33500398

Complex hereditary spastic paraplegia associated with episodic visual loss caused by ACO2 variants.

Takenori Tozawa1,2, Akira Nishimura3, Tamaki Ueno4,5, Akane Shikata6, Yoshihiro Taura7, Takeshi Yoshida8, Naoko Nakagawa9, Takahito Wada9, Shinji Kosugi9, Tomoko Uehara10, Toshiki Takenouchi11, Kenjiro Kosaki10, Tomohiro Chiyonobu7.   

Abstract

Most patients with homozygous or compound heterozygous pathogenic ACO2 variants present with muscular hypotonia features, namely, infantile cerebellar-retinal degeneration. Recently, two studies reported rare familial cases of ACO2 variants presenting as complex hereditary spastic paraplegia (HSP) with broad clinical spectra. Here, we report the case of a 20-year-old Japanese woman with complex HSP caused by compound heterozygous ACO2 variants, revealing a new phenotype of episodic visual loss during febrile illness.

Entities:  

Year:  2021        PMID： 33500398      PMCID： PMC7838304          DOI： 10.1038/s41439-021-00136-y

Source DB:  PubMed          Journal:  Hum Genome Var        ISSN： 2054-345X


  20 in total

1.  Infantile cerebellar-retinal degeneration associated with a mutation in mitochondrial aconitase, ACO2.

Authors:  Ronen Spiegel; Ophry Pines; Asaf Ta-Shma; Efrat Burak; Avraham Shaag; Jonatan Halvardson; Shimon Edvardson; Muhammad Mahajna; Shamir Zenvirt; Ann Saada; Stavit Shalev; Lars Feuk; Orly Elpeleg
Journal:  Am J Hum Genet       Date:  2012-03-09       Impact factor: 11.025

2.  Hereditary spastic paraplegia-like disorder due to a mitochondrial ATP6 gene point mutation.

Authors:  Christophe Verny; Naig Guegen; Valerie Desquiret; Arnaud Chevrollier; Adriana Prundean; Frederic Dubas; Julien Cassereau; Marc Ferre; Patrizia Amati-Bonneau; Dominique Bonneau; Pascal Reynier; Vincent Procaccio
Journal:  Mitochondrion       Date:  2010-07-22       Impact factor: 4.160

3.  Mutations in the tricarboxylic acid cycle enzyme, aconitase 2, cause either isolated or syndromic optic neuropathy with encephalopathy and cerebellar atrophy.

Authors:  Metodi Dimitrov Metodiev; Sylvie Gerber; Laurence Hubert; Agnès Delahodde; Dominique Chretien; Xavier Gérard; Patrizia Amati-Bonneau; Marie-Christine Giacomotto; Nathalie Boddaert; Anna Kaminska; Isabelle Desguerre; Jeanne Amiel; Marlène Rio; Josseline Kaplan; Arnold Munnich; Agnès Rötig; Jean Michel Rozet; Claude Besmond
Journal:  J Med Genet       Date:  2014-10-28       Impact factor: 6.318

4.  Increased Survival and Partly Preserved Cognition in a Patient With ACO2-Related Disease Secondary to a Novel Variant.

Authors:  Siddharth Srivastava; Cynthia S Gubbels; Kira Dies; Anne Fulton; Timothy Yu; Mustafa Sahin
Journal:  J Child Neurol       Date:  2017-05-25       Impact factor: 1.987

5.  The Hsp60-(p.V98I) mutation associated with hereditary spastic paraplegia SPG13 compromises chaperonin function both in vitro and in vivo.

Authors:  Peter Bross; Søren Naundrup; Jakob Hansen; Marit Nyholm Nielsen; Jane Hvarregaard Christensen; Mogens Kruhøffer; Johan Palmfeldt; Thomas Juhl Corydon; Niels Gregersen; Debbie Ang; Costa Georgopoulos; Kåre Lehmann Nielsen
Journal:  J Biol Chem       Date:  2008-04-08       Impact factor: 5.157

Review 6.  Hereditary spastic paraplegia: clinico-pathologic features and emerging molecular mechanisms.

Authors:  John K Fink
Journal:  Acta Neuropathol       Date:  2013-07-30       Impact factor: 17.088

Review 7.  Aconitase, a two-faced protein: enzyme and iron regulatory factor.

Authors:  H Beinert; M C Kennedy
Journal:  FASEB J       Date:  1993-12       Impact factor: 5.191

8.  Alteration of fatty-acid-metabolizing enzymes affects mitochondrial form and function in hereditary spastic paraplegia.

Authors:  Christelle Tesson; Magdalena Nawara; Mustafa A M Salih; Rodrigue Rossignol; Maha S Zaki; Mohammed Al Balwi; Rebecca Schule; Cyril Mignot; Emilie Obre; Ahmed Bouhouche; Filippo M Santorelli; Christelle M Durand; Andrés Caballero Oteyza; Khalid H El-Hachimi; Abdulmajeed Al Drees; Naima Bouslam; Foudil Lamari; Salah A Elmalik; Mohammad M Kabiraj; Mohammed Z Seidahmed; Typhaine Esteves; Marion Gaussen; Marie-Lorraine Monin; Gabor Gyapay; Doris Lechner; Michael Gonzalez; Christel Depienne; Fanny Mochel; Julie Lavie; Ludger Schols; Didier Lacombe; Mohamed Yahyaoui; Ibrahim Al Abdulkareem; Stephan Zuchner; Atsushi Yamashita; Ali Benomar; Cyril Goizet; Alexandra Durr; Joseph G Gleeson; Frederic Darios; Alexis Brice; Giovanni Stevanin
Journal:  Am J Hum Genet       Date:  2012-11-21       Impact factor: 11.025

9.  ACO2 homozygous missense mutation associated with complicated hereditary spastic paraplegia.

Authors:  Christian G Bouwkamp; Zaid Afawi; Aviva Fattal-Valevski; Inge E Krabbendam; Stefano Rivetti; Rafik Masalha; Marialuisa Quadri; Guido J Breedveld; Hanna Mandel; Muhammad Abu Tailakh; H Berna Beverloo; Giovanni Stevanin; Alexis Brice; Wilfred F J van IJcken; Meike W Vernooij; Amalia M Dolga; Femke M S de Vrij; Vincenzo Bonifati; Steven A Kushner
Journal:  Neurol Genet       Date:  2018-03-21

10.  Loss of m-AAA protease in mitochondria causes complex I deficiency and increased sensitivity to oxidative stress in hereditary spastic paraplegia.

Authors:  Luigia Atorino; Laura Silvestri; Mirko Koppen; Laura Cassina; Andrea Ballabio; Roberto Marconi; Thomas Langer; Giorgio Casari
Journal:  J Cell Biol       Date:  2003-11-17       Impact factor: 10.539
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