Literature DB >> 11409434

Slowing of voluntary and involuntary saccades: an early sign in spinocerebellar ataxia type 7.

A K Oh1, K M Jacobson, J C Jen, R W Baloh.   

Abstract

We describe quantitative oculomotor findings in a patient with subclinical spinocerebellar ataxia type 7 (SCA7) and a borderline mutation of 38 CAG repeats and her daughter with SCA7 and 46 repeats. Both subjects demonstrated significant slowing of voluntary and involuntary saccades, but retinal examination was normal. Smooth pursuit and fixation suppression of VOR were mildly impaired. Slow saccades may be the earliest neurologic finding even in asymptomatic SCA7 patients with normal ocular fundi. The SCA7 mutation probably has an early impact on brainstem fast eye movement centers.

Entities:  

Mesh:

Substances:

Year:  2001        PMID: 11409434     DOI: 10.1002/ana.1059

Source DB:  PubMed          Journal:  Ann Neurol        ISSN: 0364-5134            Impact factor:   10.422


  15 in total

1.  Hereditary Ataxias in Cuba: A Nationwide Epidemiological and Clinical Study in 1001 Patients.

Authors:  Luis Velázquez-Pérez; Jacqueline Medrano-Montero; Roberto Rodríguez-Labrada; Nalia Canales-Ochoa; Jandy Campins Alí; Frank J Carrillo Rodes; Tania Rodríguez Graña; María O Hernández Oliver; Raul Aguilera Rodríguez; Yennis Domínguez Barrios; Reydenis Torres Vega; Lissi Flores Angulo; Noharis Y Cordero Navarro; Aldo A Sigler Villanueva; Osiel Gámez Rodríguez; Ilya Sagaró Zambrano; Nayime Y Navas Napóles; Javier García Zacarías; Orlando R Serrano Barrera; María B Ramírez Bautista; Annelié Estupiñán Rodríguez; Leonardo A Guerra Rondón; Yaimeé Vázquez-Mojena; Yanetza González-Zaldivar; Luis E Almaguer Mederos; Alejandro Leyva-Mérida
Journal:  Cerebellum       Date:  2020-04       Impact factor: 3.847

Review 2.  Vertical supranuclear gaze palsy in Niemann-Pick type C disease.

Authors:  Ettore Salsano; Chizoba Umeh; Alessandra Rufa; Davide Pareyson; David S Zee
Journal:  Neurol Sci       Date:  2012-07-19       Impact factor: 3.307

3.  A comprehensive clinical and genetic study of a large Mexican population with spinocerebellar ataxia type 7.

Authors:  L Velázquez-Pérez; C M Cerecedo-Zapata; O Hernández-Hernández; E Martínez-Cruz; Y S Tapia-Guerrero; R González-Piña; J Salas-Vargas; R Rodríguez-Labrada; R Gurrola-Betancourth; N Leyva-García; B Cisneros; J J Magaña
Journal:  Neurogenetics       Date:  2014-10-16       Impact factor: 2.660

Review 4.  An overview of the patient with ataxia.

Authors:  Caterina Mariotti; Roberto Fancellu; Stefano Di Donato
Journal:  J Neurol       Date:  2005-05       Impact factor: 4.849

5.  Evolution of the vestibular function during head impulses in spinocerebellar ataxia type 6.

Authors:  Sun-Uk Lee; Ji-Soo Kim; Hyo-Jung Kim; Jeong-Yoon Choi; Ji-Yun Park; Jong-Min Kim; Xu Yang
Journal:  J Neurol       Date:  2020-02-17       Impact factor: 4.849

Review 6.  Eye movements in patients with neurodegenerative disorders.

Authors:  Tim J Anderson; Michael R MacAskill
Journal:  Nat Rev Neurol       Date:  2013-01-22       Impact factor: 42.937

7.  Spinocerebellar ataxia type 7: clinical course, phenotype-genotype correlations, and neuropathology.

Authors:  Laura C Horton; Matthew P Frosch; Mark G Vangel; Carol Weigel-DiFranco; Eliot L Berson; Jeremy D Schmahmann
Journal:  Cerebellum       Date:  2013-04       Impact factor: 3.847

8.  Pontine atrophy precedes cerebellar degeneration in spinocerebellar ataxia 7: MRI-based volumetric analysis.

Authors:  O Y Bang; P H Lee; S Y Kim; H J Kim; K Huh
Journal:  J Neurol Neurosurg Psychiatry       Date:  2004-10       Impact factor: 10.154

9.  Electrophysiology in spinocerebellar ataxias: spread of disease and characteristic findings.

Authors:  Ludger Schöls; Christoph Linnemann; Christoph Globas
Journal:  Cerebellum       Date:  2008       Impact factor: 3.847

10.  Spinocerebellar ataxia type 17 (SCA17): oculomotor phenotype and clinical characterization of 15 Italian patients.

Authors:  Caterina Mariotti; Dario Alpini; Roberto Fancellu; Paola Soliveri; Marina Grisoli; Sabrina Ravaglia; Carlo Lovati; Vincenza Fetoni; Giorgio Giaccone; Alessia Castucci; Franco Taroni; Cinzia Gellera; Stefano Di Donato
Journal:  J Neurol       Date:  2007-10-15       Impact factor: 4.849

View more

北京卡尤迪生物科技股份有限公司 © 2022-2023.