Literature DB >> 15465400

Levodopa-responsive parkinsonism in hereditary spastic paraplegia with thin corpus callosum.

Suk Y Kang1, Mee H Lee, Seung K Lee, Young H Sohn.   

Abstract

Hereditary spastic paraplegia with thin corpus callosum is a rare degenerative disease, which is characterized by a progressive weakness of the lower limbs with a hypoplastic corpus callosum, and is often associated with other symptoms such as mental impairment, amyotrophy, sensory disturbances, dysuria, nystagmus and cataract. We describe two siblings (brother and sister) who showed a thin corpus callosum on MRI, one of whom showed the pure form of progressive spastic paraplegia, while the other showed predominant levodopa-responsive parkinsonism. The present cases are illustrative of a phenotypic heterogeneity in the same family of spastic paraplegia with a thin corpus callosum, despite the identical neuroimaging findings, and also presented another form of autosomal recessive juvenile levodopa-responsive parkinsonism.

Entities:  

Mesh:

Substances:

Year:  2004        PMID: 15465400     DOI: 10.1016/j.parkreldis.2004.05.003

Source DB:  PubMed          Journal:  Parkinsonism Relat Disord        ISSN: 1353-8020            Impact factor:   4.891


  8 in total

1.  Genome-Wide Analyses of Working-Memory Ability: A Review.

Authors:  E E M Knowles; S R Mathias; D R McKay; E Sprooten; John Blangero; Laura Almasy; D C Glahn
Journal:  Curr Behav Neurosci Rep       Date:  2014-12

2.  Spastic paraplegia with thin corpus callosum: description of 20 new families, refinement of the SPG11 locus, candidate gene analysis and evidence of genetic heterogeneity.

Authors:  Giovanni Stevanin; Giorgia Montagna; Hamid Azzedine; Enza Maria Valente; Alexandra Durr; Valentina Scarano; Naima Bouslam; Denise Cassandrini; Paola S Denora; Chiara Criscuolo; Soraya Belarbi; Antonio Orlacchio; Philippe Jonveaux; Gabriella Silvestri; Anne Marie Ouvrad Hernandez; Giuseppe De Michele; Meriem Tazir; Caterina Mariotti; Knut Brockmann; Alessandro Malandrini; Marjo S van der Knapp; Marcella Neri; Hassan Tonekaboni; Mariarosa A B Melone; Alessandra Tessa; M Teresa Dotti; Michela Tosetti; Flavia Pauri; Antonio Federico; Carlo Casali; Vitor T Cruz; José L Loureiro; Federico Zara; Sylvie Forlani; Enrico Bertini; Paula Coutinho; Alessandro Filla; Alexis Brice; Filippo M Santorelli
Journal:  Neurogenetics       Date:  2006-05-13       Impact factor: 2.660

3.  SPG11 spastic paraplegia. A new cause of juvenile parkinsonism.

Authors:  Mathieu Anheim; Clotilde Lagier-Tourenne; Giovanni Stevanin; Marie Fleury; Alexandra Durr; Izzie Jacques Namer; Paola Denora; Alexis Brice; Jean-Louis Mandel; Michel Koenig; Christine Tranchant
Journal:  J Neurol       Date:  2009-02-09       Impact factor: 4.849

4.  Management of Hereditary Spastic Paraplegia: A Systematic Review of the Literature.

Authors:  Marta Bellofatto; Giovanna De Michele; Aniello Iovino; Alessandro Filla; Filippo M Santorelli
Journal:  Front Neurol       Date:  2019-01-22       Impact factor: 4.003

5.  Spastic Paraplegia Accompanied by Extrapyramidal Sign and Frontal Cognitive Dysfunction.

Authors:  Ryo Sasaki; Yasuyuki Ohta; Kota Sato; Koh Tadokoro; Yoshiaki Takahashi; Jingwei Shang; Mami Takemoto; Nozomi Hishikawa; Toru Yamashita; Hiroyuki Ishiura; Shoji Tsuji; Koji Abe
Journal:  Intern Med       Date:  2019-07-10       Impact factor: 1.271

6.  Genetics and Pathophysiology of Neurodegeneration with Brain Iron Accumulation (NBIA).

Authors:  Susanne A Schneider; Petr Dusek; John Hardy; Ana Westenberger; Joseph Jankovic; Kailash P Bhatia
Journal:  Curr Neuropharmacol       Date:  2013-01       Impact factor: 7.363

7.  Striatal dopaminergic functioning in patients with sporadic and hereditary spastic paraplegias with parkinsonism.

Authors:  Ji Seon Kim; Jong Min Kim; Yu Kyeong Kim; Sang Eun Kim; Ji Young Yun; Beom S Jeon
Journal:  J Korean Med Sci       Date:  2013-10-31       Impact factor: 2.153

8.  Genetic and phenotypic characterization of complex hereditary spastic paraplegia.

Authors:  Eleanna Kara; Arianna Tucci; Claudia Manzoni; David S Lynch; Marilena Elpidorou; Conceicao Bettencourt; Viorica Chelban; Andreea Manole; Sherifa A Hamed; Nourelhoda A Haridy; Monica Federoff; Elisavet Preza; Deborah Hughes; Alan Pittman; Zane Jaunmuktane; Sebastian Brandner; Georgia Xiromerisiou; Sarah Wiethoff; Lucia Schottlaender; Christos Proukakis; Huw Morris; Tom Warner; Kailash P Bhatia; L V Prasad Korlipara; Andrew B Singleton; John Hardy; Nicholas W Wood; Patrick A Lewis; Henry Houlden
Journal:  Brain       Date:  2016-05-23       Impact factor: 15.255

  8 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.