Literature DB >> 15895274

An overview of the patient with ataxia.

Caterina Mariotti1, Roberto Fancellu, Stefano Di Donato.   

Abstract

Ataxia, a neurological sign characterized by the incoordination of voluntary movements, is the most prominent manifestation of cerebellar disease. The cardinal features of cerebellar dysfunction involve disturbances of stance, gait, eye movements, muscle tone, skilled movements, and speech. Classification and differential diagnosis of ataxic syndromes have intrinsic complexity owing to the variability in phenotypic presentations and in etiologies, which include trauma, toxic and metabolic causes, neoplasms, immune mechanisms, and genetic diseases. Pure cerebellar symptoms are rarely observed, while the clinical picture of both genetic and sporadic ataxia syndromes is sometimes complicated by the presence of extracerebellar neurological or multisystem extraneural pathology. Clinical presentation and assessment of the patients together with classification, genetic aspects, and principles in differential diagnosis of ataxias are briefly reviewed.

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Mesh:

Year:  2005        PMID: 15895274     DOI: 10.1007/s00415-005-0814-z

Source DB:  PubMed          Journal:  J Neurol        ISSN: 0340-5354            Impact factor:   4.849


  50 in total

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Journal:  Mov Disord       Date:  1999-07       Impact factor: 10.338

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

Authors:  A K Oh; K M Jacobson; J C Jen; R W Baloh
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3.  Classification of the hereditary ataxias and paraplegias.

Authors:  A E Harding
Journal:  Lancet       Date:  1983-05-21       Impact factor: 79.321

4.  Gluten sensitivity in sporadic and hereditary cerebellar ataxia.

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Journal:  Ann Neurol       Date:  2001-04       Impact factor: 10.422

5.  FMR1 gene premutation is a frequent genetic cause of late-onset sporadic cerebellar ataxia.

Authors:  A Brussino; C Gellera; A Saluto; C Mariotti; C Arduino; B Castellotti; M Camerlingo; V de Angelis; L Orsi; P Tosca; N Migone; F Taroni; A Brusco
Journal:  Neurology       Date:  2005-01-11       Impact factor: 9.910

6.  Molecular genetics of hereditary spinocerebellar ataxia: mutation analysis of spinocerebellar ataxia genes and CAG/CTG repeat expansion detection in 225 Italian families.

Authors:  Alfredo Brusco; Cinzia Gellera; Claudia Cagnoli; Alessandro Saluto; Alessia Castucci; Chiara Michielotto; Vincenza Fetoni; Caterina Mariotti; Nicola Migone; Stefano Di Donato; Franco Taroni
Journal:  Arch Neurol       Date:  2004-05

7.  Frequency and phenotypic spectrum of ataxia with oculomotor apraxia 2: a clinical and genetic study in 18 patients.

Authors:  Isabelle Le Ber; Naïma Bouslam; Sophie Rivaud-Péchoux; João Guimarães; Ali Benomar; Céline Chamayou; Cyril Goizet; Maria-Ceù Moreira; Sandra Klur; Mohamed Yahyaoui; Yves Agid; Michel Koenig; Giovanni Stevanin; Alexis Brice; Alexandra Dürr
Journal:  Brain       Date:  2004-01-21       Impact factor: 13.501

Review 8.  Pathways to motor incoordination: the inherited ataxias.

Authors:  Franco Taroni; Stefano DiDonato
Journal:  Nat Rev Neurosci       Date:  2004-08       Impact factor: 34.870

9.  Paraneoplastic cerebellar degeneration associated with antineuronal antibodies: analysis of 50 patients.

Authors:  Setareh Shams'ili; Joost Grefkens; Bertie de Leeuw; Martin van den Bent; Herbert Hooijkaas; Bronno van der Holt; Charles Vecht; Peter Sillevis Smitt
Journal:  Brain       Date:  2003-06       Impact factor: 13.501

10.  Episodic ataxia type 2 (EA2) and spinocerebellar ataxia type 6 (SCA6) due to CAG repeat expansion in the CACNA1A gene on chromosome 19p.

Authors:  C Jodice; E Mantuano; L Veneziano; F Trettel; G Sabbadini; L Calandriello; A Francia; M Spadaro; F Pierelli; F Salvi; R A Ophoff; R R Frants; M Frontali
Journal:  Hum Mol Genet       Date:  1997-10       Impact factor: 6.150

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  17 in total

1.  38-Year-old woman with increasing fatigue and dyspnea.

Authors:  Sherezade Khambatta; Douglas L Nguyen; Christopher M Wittich
Journal:  Mayo Clin Proc       Date:  2010-04       Impact factor: 7.616

2.  Can Latent Class Analysis Be Used to Improve the Diagnostic Process in Pediatric Patients with Chronic Ataxia?

Authors:  Samantha Klassen; Brenden Dufault; Michael S Salman
Journal:  Cerebellum       Date:  2017-04       Impact factor: 3.847

3.  Korean version of the scale for the assessment and rating of ataxia in ataxic stroke patients.

Authors:  Bo-Ram Kim; Jin-Youn Lee; Min Jeong Kim; Heeyoune Jung; Jongmin Lee
Journal:  Ann Rehabil Med       Date:  2014-12-24

4.  Increased obstacle clearance in people with ARCA-1 results in part from voluntary coordination changes between the thigh and shank segments.

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Journal:  Cerebellum       Date:  2011-12       Impact factor: 3.847

5.  Rescue of motor coordination by Purkinje cell-targeted restoration of Kv3.3 channels in Kcnc3-null mice requires Kcnc1.

Authors:  Edward C Hurlock; Mitali Bose; Ganon Pierce; Rolf H Joho
Journal:  J Neurosci       Date:  2009-12-16       Impact factor: 6.167

6.  Spinocerebellar ataxia type 28: a novel autosomal dominant cerebellar ataxia characterized by slow progression and ophthalmoparesis.

Authors:  Caterina Mariotti; Alfredo Brusco; Daniela Di Bella; Claudia Cagnoli; Marco Seri; Cinzia Gellera; Stefano Di Donato; Franco Taroni
Journal:  Cerebellum       Date:  2008       Impact factor: 3.847

7.  The metabotropic glutamate receptor 1, GRM1: evaluation as a candidate gene for inherited forms of cerebellar ataxia.

Authors:  Pia Irene Anna Rossi; Carlotta Maria Vaccari; Alessandra Terracciano; Laura Doria-Lamba; Sabrina Facchinetti; Manuela Priolo; Carmen Ayuso; Laura De Jorge; Stefania Gimelli; Filippo Maria Santorelli; Roberto Ravazzolo; Aldamaria Puliti
Journal:  J Neurol       Date:  2009-11-19       Impact factor: 4.849

8.  The Effects of Exergame on Postural Control in Individuals with Ataxia: a Rater-Blinded, Randomized Controlled, Cross-over Study.

Authors:  Ender Ayvat; Özge Onursal Kılınç; Fatma Ayvat; Cevher Savcun Demirci; Sibel Aksu Yıldırım; Oğuzhan Kurşun; Muhammed Kılınç
Journal:  Cerebellum       Date:  2021-05-11       Impact factor: 3.648

Review 9.  The genetics of ataxia: through the labyrinth of the Minotaur, looking for Ariadne's thread.

Authors:  M Mancuso; D Orsucci; G Siciliano; U Bonuccelli
Journal:  J Neurol       Date:  2014-09       Impact factor: 4.849

Review 10.  Purinergic Receptors in Neurological Diseases With Motor Symptoms: Targets for Therapy.

Authors:  Ágatha Oliveira-Giacomelli; Yahaira Naaldijk; Laura Sardá-Arroyo; Maria C B Gonçalves; Juliana Corrêa-Velloso; Micheli M Pillat; Héllio D N de Souza; Henning Ulrich
Journal:  Front Pharmacol       Date:  2018-04-10       Impact factor: 5.810

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