Hélio A G Teive1, Tetsuo Ashizawa. 1. aMovement Disorders Unit and Neurology Service, Department of Internal Medicine, Hospital de Clínicas, Federal University of Paraná, Curitiba, Paraná, Brazil bDepartment of Neurology, University of Florida, Gainesville, Florida, USA.
Abstract
PURPOSE OF REVIEW: This article discusses recent advances in the understanding of clinical and genetic aspects of primary ataxias, including congenital, autosomal recessive, autosomal dominant, episodic, X-linked, and mitochondrial ataxias, as well as idiopathic degenerative and secondary ataxias. RECENT FINDINGS: Many important observations have been published in recent years in connection with primary ataxias, particularly new loci and genes. The most commonly inherited ataxias may present with typical and atypical phenotypes. In the group of idiopathic degenerative ataxias, genes have been found in patients with multiple system atrophy type C. Secondary ataxias represent an important group of sporadic, cerebellar, and afferent/sensory ataxias. SUMMARY: Knowledge of primary ataxias has been growing rapidly in recent years. Here we review different forms of primary ataxia, including inherited forms, which are subdivided into congenital, autosomal recessive cerebellar ataxias, autosomal dominant cerebellar ataxias, episodic ataxias, X-linked ataxias, and mitochondrial ataxias, as well as sporadic ataxias and idiopathic degenerative ataxias. Secondary or acquired ataxias are also reviewed and the most common causes are discussed.
PURPOSE OF REVIEW: This article discusses recent advances in the understanding of clinical and genetic aspects of primary ataxias, including congenital, autosomal recessive, autosomal dominant, episodic, X-linked, and mitochondrial ataxias, as well as idiopathic degenerative and secondary ataxias. RECENT FINDINGS: Many important observations have been published in recent years in connection with primary ataxias, particularly new loci and genes. The most commonly inherited ataxias may present with typical and atypical phenotypes. In the group of idiopathic degenerative ataxias, genes have been found in patients with multiple system atrophy type C. Secondary ataxias represent an important group of sporadic, cerebellar, and afferent/sensory ataxias. SUMMARY: Knowledge of primary ataxias has been growing rapidly in recent years. Here we review different forms of primary ataxia, including inherited forms, which are subdivided into congenital, autosomal recessive cerebellar ataxias, autosomal dominant cerebellar ataxias, episodic ataxias, X-linked ataxias, and mitochondrial ataxias, as well as sporadic ataxias and idiopathic degenerative ataxias. Secondary or acquired ataxias are also reviewed and the most common causes are discussed.
Authors: Christiane de M B Almeida Leite; Maria Eliana M Schieferdecker; Caroline Frehner; Renato P Munhoz; Tetsuo Ashizawa; Hélio A G Teive Journal: Nutr Neurosci Date: 2018-05-07 Impact factor: 4.994
Authors: W Ilg; M Branscheidt; A Butala; P Celnik; L de Paola; F B Horak; L Schöls; H A G Teive; A P Vogel; D S Zee; D Timmann Journal: Cerebellum Date: 2018-10 Impact factor: 3.847
Authors: Maria Thereza Drumond Gama; Pedro Braga-Neto; Livia Almeida Dutra; Helena Alessi; Lilia Alves Maria; Ary Araripe Gadelha; Bruno Bertolucci Ortiz; Ilda Kunii; Silvia Regina Correia-Silva; Magnus R Dias da Silva; Patrick A Dion; Guy A Rouleau; Marcondes Cavalcante França; Orlando G P Barsottini; José Luiz Pedroso Journal: Cerebellum Date: 2019-08 Impact factor: 3.847