Publications by authors named "Marta Ruibal"
Long-term effectiveness and tolerability of galcanezumab in patients with migraine excluded from clinical trials: real world evidence of 1055 patients with 1 year follow-up from the Galca-Only registry.
J Headache Pain
November 2023
Background: Galcanezumab has shown efficacy and effectiveness in the treatment of episodic and chronic migraine (CM), however, the population represented in randomized clinical trials (RCTs) differs from the population observed in real-world setting. To describe the long-term effectiveness and tolerability of galcanezumab in clinical practice in patients excluded from RCTs.
Methods: Multicenter prospective cohort study of consecutive patients with chronic and high-frequency episodic migraine (HFEM) with prior failure to three or more migraine preventive drugs, treated with galcanezumab and followed up for 12 months.
Article Synopsis
- Researchers studied GAA repeat expansions in the FGF14 gene, which have been linked to spinocerebellar ataxia 27B (SCA27B), to understand its frequency and characteristics in late-onset cerebellar ataxia (LOCA) patients.
- They screened 64 undiagnosed LOCA patients, finding that 28% had the FGF14 expansion, with gait ataxia and mild dysarthria being common symptoms.
- The study concluded that SCA27B is the leading cause of LOCA in their patient group, suggesting FGF14 GAA expansion screening should be a standard first step in genetic testing for these patients.*
Background: There is an increasing interest in the clinico-pathological correlation of mutations in progranulin (PGRN) and frontotemporal lobar degeneration (FTLD) complex diseases. We aim to study the PGRN expression variability in patients with different clinical features for a better understanding of its roles in FTLD disease.
Methods: We sequenced the PGRN gene in 72 patients suffering from FTLD (25 familial and 47 sporadic cases) and in 24 asymptomatic at-risk relatives.