Factors predicting disease progression in C9ORF72 ALS patients.
Amyotrophic lateral sclerosis
C9ORF72
Population-based register
Prognostic factor
Survival
Thyroid disorders
Journal
Journal of neurology
ISSN: 1432-1459
Titre abrégé: J Neurol
Pays: Germany
ID NLM: 0423161
Informations de publication
Date de publication:
Feb 2023
Feb 2023
Historique:
received:
13
07
2022
accepted:
13
10
2022
revised:
10
10
2022
pubmed:
25
10
2022
medline:
2
2
2023
entrez:
24
10
2022
Statut:
ppublish
Résumé
To unveil clinical features, comorbidities, disease progression and prognostic factors in a population-based cohort of ALS patients carrying C9ORF72 expansion (C9 + ALS). This is a retrospective observational study on ALS patients residing in Emilia Romagna and Piedmont-Valle D'Aosta regions whose data are available through population based registers. We analysed patients who underwent genetic testing, focusing on C9 + ALS subgroup. Among 2204 genotyped patients of the two registers, 150 were C9 + ALS. In comparison with patients without mutation, a higher proportion of family history (12.85 vs 68%, p < 0.001) and frontotemporal dementia (3.93% vs 10.67%, p < 0.001) was detected in C9 + ALS. C9 + ALS presented a faster disease progression as measured by monthly decline in ALS Functional Rating Scale-Revised (1.86 ± 3.30 vs 1.45 ± 2.35, p < 0.01) and in forced vital capacity (5.90 ± 5.24 vs 2.97 ± 3.47, p < 0.01), a shorter diagnostic delay (8.93 ± 6.74 vs 12.68 ± 12.86 months, p < 0.01) and earlier onset (58.91 ± 9.02 vs 65.04 ± 11.55 years, p < 0.01). Consistently, they reached death or tracheostomy earlier than other patients (31 vs 37 months, HR = 1.52, 95% C.I. 1.27-1.82, p < 0.001). With respect to other genotyped patients, C9 + ALS patients did not present a significantly higher prevalence of concomitant diseases. Independent prognostic factors of survival of C9 + ALS included sex, age, progression rate, presence of frontotemporal dementia and thyroid disorders, with the latter being associated with prolonged ALS survival (43 vs 29 months, HR = 0.42, 95% C.I. 0.24-0.74, p = 0.003). Even in the context of a more aggressive disease, C9 + ALS had a longer survival in presence of thyroid disorders. This finding may suggest protective pathogenic pathways in C9 + ALS to be explored, looking for therapeutic strategies to slow disease course.
Identifiants
pubmed: 36280624
doi: 10.1007/s00415-022-11426-y
pii: 10.1007/s00415-022-11426-y
doi:
Substances chimiques
C9orf72 Protein
0
C9orf72 protein, human
0
Types de publication
Observational Study
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
877-890Subventions
Organisme : Ministero della Salute
ID : RF-2016-02362405
Organisme : Seventh Framework Programme
ID : 259867
Organisme : Ministero dell'Istruzione, dell'Università e della Ricerca
ID : 2017SNW5MB
Organisme : Ministero dell'Istruzione, dell'Università e della Ricerca
ID : DEPARTMENT OF EXCELLENCE
Organisme : Ministero dell'Istruzione, dell'Università e della Ricerca
ID : AGING Project FOR DEPARTMENT OF EXCELLENCE
Organisme : EU Joint Programme - Neurodegenerative Disease Research
ID : ALS-Care
Organisme : EU Joint Programme - Neurodegenerative Disease Research
ID : Strength
Organisme : EU Joint Programme - Neurodegenerative Disease Research
ID : Brain-Mend projects
Organisme : Horizon 2020
ID : Brainteaser 101017598
Informations de copyright
© 2022. The Author(s), under exclusive licence to Springer-Verlag GmbH Germany.
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