Unit of Medical Genetics and Neurogenetics, Fondazione IRCCS Istituto Neurologico Carlo Besta, Via Celoria 11, 20133, Milan, Italy.
PhD Program in Neuroscience, School of Medicine and Surgery, University of Milano-Bicocca, Monza, Italy.
Neurol Sci. 2022 Dec;43(12):6831-6838. doi: 10.1007/s10072-022-06360-w. Epub 2022 Sep 2.
Friedreich's ataxia (FA) is the most common hereditary ataxia, characterized by multisystemic manifestations including neurological, cardiological, and skeletal abnormalities. In this study, we aimed to analyze the incidences of disease-related and unrelated comorbidities occurring in different stages of the disease progression.
We analyzed longitudinal data from a 10-year prospective observational study in a cohort of 175 FA patients with disease onset < 25 years. We analyzed the time of diagnosis for the most frequently reported medical conditions, with respect to age and disease duration of each patient.
In the early stage of the disease, scoliosis (53.3%), hypertrophic cardiomyopathy (46.7%), and pes cavus (33.3%) were the most frequently diagnosed conditions, sometimes occurring even before the onset of ataxia. Diabetes, bone fractures, and depression have the same incidence at all disease stages. In patients with > 20 years of disease duration, the most frequent complications were hearing and visual loss (20% and 26%), arrhythmias (16%), and psychosis (18%). Thirteen patients presented hallucinations/delusions in the absence of neurological acute events or mental illness predisposing to psychotic manifestations. Six of these patients fulfill the diagnostic criteria for Charles Bonnet syndrome.
Incidence of FA-related medical conditions varies according to disease duration. In patients with very long disease duration, we observed an unexpectedly high incidence of visual and auditory pseudo-hallucinations that were not previously reported in FA patients. We hypothesized that these late complications may be possibly related to the severe sensory deafferentation syndrome observed in the advanced stages of FA disease.
弗里德里希共济失调（FA）是最常见的遗传性共济失调，其特征为多系统表现，包括神经、心脏和骨骼异常。本研究旨在分析不同疾病进展阶段发生的与疾病相关和无关的共病的发生率。
我们分析了 175 例发病年龄<25 岁的 FA 患者的 10 年前瞻性观察性研究的纵向数据。我们分析了最常报告的疾病的诊断时间，具体涉及每位患者的年龄和疾病持续时间。
在疾病的早期，脊柱侧凸（53.3%）、肥厚型心肌病（46.7%）和高弓足（33.3%）是最常诊断的疾病，有时甚至在共济失调发病之前就已发生。糖尿病、骨折和抑郁症在所有疾病阶段的发生率相同。在疾病持续时间>20 年的患者中，最常见的并发症是听力和视力丧失（20%和 26%）、心律失常（16%）和精神病（18%）。13 例患者在无神经系统急性事件或导致精神病表现的精神疾病的情况下出现幻觉/妄想。这些患者中有 6 例符合 Charles Bonnet 综合征的诊断标准。
FA 相关医疗条件的发生率因疾病持续时间而异。在疾病持续时间非常长的患者中，我们观察到视觉和听觉假性幻觉的发生率异常高，而在 FA 患者中以前并未报道过这些幻觉。我们假设这些晚期并发症可能与 FA 疾病晚期观察到的严重感觉剥夺综合征有关。
