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02-09-2022 | Scoliosis | Original Article

Comorbidities in Friedreich ataxia: incidence and manifestations from early to advanced disease stages

Authors: Mario Fichera, Anna Castaldo, Alessia Mongelli, Gloria Marchini, Cinzia Gellera, Lorenzo Nanetti, Caterina Mariotti

Published in: Neurological Sciences | Issue 12/2022

Abstract

Objectives

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.

Methods

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.

Results

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.

Conclusions

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.

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Title: Comorbidities in Friedreich ataxia: incidence and manifestations from early to advanced disease stages
Authors: Mario Fichera
Anna Castaldo
Alessia Mongelli
Gloria Marchini
Cinzia Gellera
Lorenzo Nanetti
Caterina Mariotti
Publication date: 02-09-2022
Publisher: Springer International Publishing
Keywords: Scoliosis
Cardiomyopathy
Spinocerebellar Degeneration
Published in: Neurological Sciences / Issue 12/2022
Print ISSN: 1590-1874
Electronic ISSN: 1590-3478
DOI: https://doi.org/10.1007/s10072-022-06360-w

Keynote webinar | Spotlight on medication adherence

Springer Medicine

Comorbidities in Friedreich ataxia: incidence and manifestations from early to advanced disease stages

Abstract

Objectives

Methods

Results

Conclusions

Keynote webinar | Spotlight on medication adherence

Springer Medicine

Abstract

Objectives

Methods

Results

Conclusions

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