Evidence and practices of the use of next generation sequencing in patients with undiagnosed autosomal dominant cerebellar ataxias: a review

• Published in: Arquivos de neuro-psiquiatria Vol. 78; no. 9; pp. 576 - 585
• Main Authors: NOVIS, Luiz Eduardo, SPITZ, Mariana, JARDIM, Marcia, RASKIN, Salmo, TEIVE, Hélio A. G.
• Format: Journal Article
• Language: English; Portuguese
• Published: Rua do Matoso 170, Rio de Janeiro, RJ, CEP 20270-135, Brazil Thieme Revinter Publicações Ltda 01.09.2020; Arquivos de Neuro-Psiquiatria; Academia Brasileira de Neurologia - ABNEURO; Academia Brasileira de Neurologia (ABNEURO)
• Subjects: Arthrogryposis; Ataxia; Atrophy; autosomal dominant cerebellar ataxias; Cerebellar Ataxia - diagnosis; Cerebellar Ataxia - genetics; Cerebellum; Dentatorubral-pallidoluysian atrophy; Genotype; Genotypes; High-Throughput Nucleotide Sequencing; Humans; NEUROSCIENCES; Next-generation sequencing; Phenotypes; Polyglutamine; PSYCHIATRY; spinocerebellar ataxias; Spinocerebellar Ataxias - diagnosis; Spinocerebellar Ataxias - genetics; Trinucleotide repeat diseases; sequenciamento de nova geração; ataxias espinocerebelares; ataxias cerebelares autossômicas dominantes; spinocerebellar ataxias; next generation sequencing; autosomal dominant cerebellar ataxias
• ISSN: 0004-282X; 1678-4227; 1678-4227
• DOI: 10.1590/0004-282X20200017

ABSTRACT Autosomal dominant cerebellar ataxias (ADCA) are heterogeneous diseases with a highly variable phenotype and genotype. They can be divided into episodic ataxia and spinocerebellar ataxia (SCA); the latter is considered the prototype of the ADCA. Most of the ADCA are caused by polyglutamine expansions, mainly SCA 1, 2, 3, 6, 7, 17 and Dentatorubral-pallidoluysian atrophy (DRPLA). However, 30% of patients remain undiagnosed after testing for these most common SCA. Recently, several studies have demonstrated that the new generation of sequencing methods are useful for the diagnose of these patients. This review focus on searching evidence on the literature, its usefulness in clinical practice and future perspectives.