Adult onset sporadic ataxias: a diagnostic challenge

Abstract

Patients with adult onset non-familial progressive ataxia are classified in sporadic ataxia group. There are several disease categories that may manifest with sporadic ataxia: toxic causes, immune-mediated ataxias, vitamin deficiency, infectious diseases, degenerative disorders and even genetic conditions. Considering heterogeneity in the clinical spectrum of sporadic ataxias, the correct diagnosis remains a clinical challenge. In this review, the different disease categories that lead to sporadic ataxia with adult onset are discussed with special emphasis on their clinical and neuroimaging features, and diagnostic criteria.Keywords: ataxia, sporadic ataxia, clinical features, diagnostic criteria. RESUMOPacientes com ataxia progressiva que se inicia na idade adulta, e sem histórico familiar da doença, são classificados no grupo das ataxias esporádicas. Existem várias categorias de doenças que podem se manifestar com ataxia esporádica, tais como: causas tóxicas, ataxias imunomediadas, deficiência de vitaminas, doenças infecciosas, doenças degenerativas e até mesmo condições genéticas. Considerando a heterogeneidade no espectro clínico das ataxias esporádicas, a definição da etiologia constitui um desafio diagnóstico. Neste artigo de revisão, realizamos uma discussão sobre as diferentes categorias de doenças que causam ataxia com início na idade adulta sem histórico familiar, com ênfase nas características clínicas, aspectos de imagem e critérios diagnósticos.Palavras-chave: ataxia, ataxias esporádicas, aspectos clínicos, critérios diagnósticos.

Acute cerebellar ataxia: differential diagnosis and clinical approach

“…Alcoholic cerebellar degeneration can often be accompanied by, and exacerbate, coexisting peripheral neuropathy and degeneration of posterior columns. Treatment of alcoholic cerebellar degeneration consists of abstinence from alcohol and vitamin B1 supplementation 2,8 .…”

“…Palavras-chave: Ataxia cerebelar; cerebelo; doenças cerebelares. be subdivided into six major groups: autosomal dominant spinocerebellar ataxias, autosomal recessive ataxias, congenital ataxias, mitochondrial ataxias, X-linked cerebellar ataxias and sporadic or acquired ataxias 1,2 . Acute cerebellar syndromes are usually acquired, non-genetic and often a neurological emergency.…”

Should we Investigate Mitochondrial Disorders in Progressive Adult-onset Undetermined Ataxias?

“…According to its etiological basis, hereditary ataxias are classi ed into six major groups: autosomal dominant spinocerebellar ataxias (SCA), autosomal recessive, congenital, mitochondrial, episodic and Xlinked cerebellar ataxias [1,2]. Despite the broad development of next-generation sequencing approaches recently, such as whole-exome sequencing (WES), diagnostic workup of adult-onset progressive cerebellar ataxias without remarkable family history and with negative genetic panel testing for SCAs remains a complex and expensive clinical challenge [1][2][3]. In this article, we report a Brazilian man with adult-onset slowly progressive pure cerebellar ataxia, which developed neuropathy and hearing loss after fteen years of ataxia onset, in which a primary mitochondrial DNA (mtDNA) defect was con rmed through muscle biopsy evaluation and WES.…”

Ataxia

“…With the advancement of neurogenetics, more inherited causes of cerebellar ataxia can be diagnosed, 1,2 but many sporadic ataxias, including those with a chronic and progressive course, still remain undiagnosed. 3 It cannot be overemphasized that it is easy to give a label of a neurodegenerative cause, but finding a reversible and treatable etiology should be sought. The evaluation of ataxia has been reviewed with many different approaches.…”