Literature DB >> 29246844

SPG7 with parkinsonism responsive to levodopa and dopaminergic deficit.

José Luiz Pedroso1, Thiago Cardoso Vale2, Fabiana Lucas Bueno3, Victor Hugo Rocha Marussi4, Lázaro Luís Faria do Amaral4, Marcondes C França5, Orlando G Barsottini6.   

Abstract

We report a 55-year-old woman with a long history of a gait disturbance that was followed by dysarthria and urinary incontinence. She underwent brain MRI, SPECT with TRODAT imaging and whole-exome sequencing, revealing the diagnosis of SPG7. She developed parkinsonism responsive to levodopa, expanding the phenotype of complex SPG7.
Copyright © 2017 Elsevier Ltd. All rights reserved.

Entities:  

Keywords:  Ataxia; Hereditary spastic paraplegias; Parkinsonism

Mesh：

Substances：

Year:  2017        PMID： 29246844     DOI： 10.1016/j.parkreldis.2017.12.004

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


  5 in total

1.  Spastic Paraplegia Type 7 and Movement Disorders: Beyond the Spastic Paraplegia.

Authors:  Michel Sáenz-Farret; Anthony E Lang; Lorraine Kalia; Inês Cunha; Mário Sousa; Greg Kuhlman; Christos Ganos; Renato P Munhoz; Alfonso Fasano; Carlos Eduardo Piña-Avilés; Carlos Zúñiga-Ramírez
Journal:  Mov Disord Clin Pract       Date:  2022-04-01

Review 2.  A Practical Approach to Early-Onset Parkinsonism.

Authors:  Giulietta M Riboldi; Emanuele Frattini; Edoardo Monfrini; Steven J Frucht; Alessio Di Fonzo
Journal:  J Parkinsons Dis       Date:  2022       Impact factor: 5.568

Review 3.  Neuroimaging in Hereditary Spastic Paraplegias: Current Use and Future Perspectives.

Authors:  Felipe Franco da Graça; Thiago Junqueira Ribeiro de Rezende; Luiz Felipe Rocha Vasconcellos; José Luiz Pedroso; Orlando Graziani P Barsottini; Marcondes C França
Journal:  Front Neurol       Date:  2019-01-16       Impact factor: 4.003

4.  Slowed vertical saccades as a hallmark of hereditary spastic paraplegia type 7.

Authors:  Ivan Milenkovic; Sigrid Klotz; Gudrun Zulehner; Thomas Sycha; Gerald Wiest
Journal:  Ann Clin Transl Neurol       Date:  2019-10-10       Impact factor: 4.511

Review 5.  Defects of Nutrient Signaling and Autophagy in Neurodegeneration.

Authors:  Jon Ondaro; Haizea Hernandez-Eguiazu; Maddi Garciandia-Arcelus; Raúl Loera-Valencia; Laura Rodriguez-Gómez; Andrés Jiménez-Zúñiga; Julen Goikolea; Patricia Rodriguez-Rodriguez; Javier Ruiz-Martinez; Fermín Moreno; Adolfo Lopez de Munain; Ian James Holt; Francisco Javier Gil-Bea; Gorka Gereñu
Journal:  Front Cell Dev Biol       Date:  2022-03-28
  5 in total

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