Publications by authors named "Amaia Martinez Arroyo"
•Acute management of SLEs differs from usual therapy in classic stroke patients.•IV L-Arginine should be administered urgently in the setting of a SLE.•If mental status is altered, an EEG should be performed to rule out a non-convulsive status.
View Article and Find Full Text PDFArticle Synopsis
- Brody disease is a rare autosomal recessive myopathy caused by mutations in the ATP2A1 gene, primarily characterized by exercise-induced muscle stiffness, particularly affecting limbs and eyelids, with onset in childhood.
- This study is the largest to date, involving 40 patients (including 22 new cases) and highlights key clinical features such as mild symptom progression, preserved muscle strength, and significant findings like delayed relaxation after contractions without muscle atrophy.
- The research indicates that Brody disease may often be misdiagnosed and emphasizes the need for genetic testing (ATP2A1 gene sequencing) in patients exhibiting these symptoms, as current treatment options are largely ineffective or cause side effects.
We here describe an acute-onset amnesic syndrome with evidence of an embolic infarction in the distribution of the subcallosal artery, a proximal branch of the anterior communicating artery. The infarction involved the corpus callosum genu and both fornices, giving a peculiar image on MRI that resembled a goblet. Although infrequent, the subcallosal artery infarction should be considered in the differential diagnosis of patients with an acute amnestic syndrome.
View Article and Find Full Text PDFTo describe seizures occurring in 3 healthy adults with influenza infection. Seizures associated to influenza infection are rare in adults without encephalitis. Clinical observations of 3 healthy adult patients with influenza A and B infection and seizures.
View Article and Find Full Text PDFObjective: To expand the clinical phenotype of autosomal dominant congenital spinal muscular atrophy with lower extremity predominance (SMA-LED) due to mutations in the dynein, cytoplasmic 1, heavy chain 1 (DYNC1H1) gene.
Methods: Patients with a phenotype suggestive of a motor, non-length-dependent neuronopathy predominantly affecting the lower limbs were identified at participating neuromuscular centers and referred for targeted sequencing of DYNC1H1.
Results: We report a cohort of 30 cases of SMA-LED from 16 families, carrying mutations in the tail and motor domains of DYNC1H1, including 10 novel mutations.