Late-onset familial amyloidosis polyneuropathy associated with c.186G>C in transthyretin.

Introduction: The most common form of hereditary amyloidosis is associated with variants of transthyretin (TTR). Familial amyloidosis polyneuropathy associated with variants of TTR (FAP-TTR) is an infrequent, multisystemic disease, with predominant involvement of the peripheral nervous system. More than 130 pathogenic variants have been identified so far and most of them are amyloidogenic, being Val30Met the most frequently described.

Neuromyelitis Optica spectrum disorders in Argentina: A hospital-based study.

Background: Neuromyelitis Optica spectrum disorder (NMOSD) is an antibody-mediated autoimmune disease of the CNS, which especially affects the optic nerves and spinal cord. There is little known in Latin America (LATAM) about NMOSD, and few reports have been published in the literature so far. We aimed to describe an NMOSD study in a single center from Argentina.

Clinical features and prognosis of late-onset neuromyelitis optica spectrum disorders in a Latin American cohort.

Background: We aimed to assess the clinical, paraclinical, imaging and prognostic features of patients with late-onset neuromyelitis optica spectrum disorder (LO-NMOSD; ≥ 50 years at disease onset) LO-NMOSD, compared with early onset-NMOSD (EO-NMOSD, ≤ 49 years at disease onset), in Latin American (LATAM).

Methods: We retrospectively reviewed the medical records of patients with NMOSD, as defined using the 2015 validated diagnostic criteria. We included patients from Argentina, Brazil and Venezuela.

Ischemic stroke of the "hand knob area": A case series and literature review.

Isolated hand paresis may reflect an infarction of the "hand knob area", which represents less than 1% of all ischemic strokes. In this type of stroke, a potential source of embolism is often identified. There are no large case series regarding this topic in Latin America.