Salcedo-Arellano Maria Jimena, Cabal-Herrera Ana Maria, Tassanakijpanich Nattaporn, McLennan Yingratana A, Hagerman Randi J
Department of Pediatrics, University of California Davis School of Medicine, Sacramento, CA 95817, USA.
MIND Institute, University of California Davis, Sacramento, CA 95817, USA.
Biomedicines. 2020 May 25;8(5):136. doi: 10.3390/biomedicines8050136.
Fragile X-associated tremor and ataxia syndrome (FXTAS) is a neurodegenerative disease developed by carriers of a premutation in the fragile X mental retardation 1 ( gene. The core clinical symptoms usually manifest in the early 60s, typically beginning with intention tremor followed by cerebellar ataxia. Ataxia can be the only symptom in approximately 20% of the patients. FXTAS has a slow progression, and patients usually experience advanced deterioration 15 to 25 years after the initial diagnosis. Common findings in brain imaging include substantial brain atrophy and white matter disease (WMD). We report three cases with an atypical clinical presentation, all presenting with gait problems as their initial manifestation and with ataxia as the dominant symptom without significant tremor, as well as a faster than usual clinical progression. Magnetic resonance imaging (MRI) was remarkable for severe brain atrophy, ventriculomegaly, thinning of the corpus callosum, and periventricular WMD. Two cases were diagnosed with definite FXTAS on the basis of clinical and radiological findings, with one individual also developing moderate dementia. Factors such as environmental exposure and general anesthesia could have contributed to their clinical deterioration. FXTAS should be considered in the differential diagnosis of patients presenting with ataxia, even in the absence of tremor, and DNA testing should be sought in those with a family history of fragile X syndrome or premutation disorders.
脆性X相关震颤共济失调综合征（FXTAS）是一种由脆性X智力低下1基因前突变携带者所患的神经退行性疾病。核心临床症状通常在60岁出头出现，典型表现为意向性震颤，随后出现小脑性共济失调。在大约20%的患者中，共济失调可能是唯一症状。FXTAS进展缓慢，患者通常在初始诊断后15至25年出现病情严重恶化。脑部影像学常见表现包括明显的脑萎缩和白质病变（WMD）。我们报告了3例具有非典型临床表现的病例，均以步态问题为初始表现，以共济失调为主要症状，无明显震颤，且临床进展比通常情况更快。磁共振成像（MRI）显示严重脑萎缩、脑室扩大、胼胝体变薄和脑室周围白质病变。根据临床和影像学表现，2例被诊断为确诊的FXTAS，其中1例还出现了中度痴呆。环境暴露和全身麻醉等因素可能导致了他们的临床病情恶化。对于出现共济失调的患者，即使没有震颤，在鉴别诊断时也应考虑FXTAS，对于有脆性X综合征或前突变疾病家族史的患者，应进行DNA检测。
