Publications by authors named "Jon Equiza"

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.*
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Introduction: The COVID19 pandemic collapsed intensive care units (ICUs) all around the world, conditioning systems of care (SOC) for other critical conditions such as severe ischemic stroke requiring endovascular treatment (EVT). Our aim was to evaluate the impact of an adaptive Stroke Unit (SU) based SOC on functional outcomes, with the goal of avoiding both general anesthesia (GA) and ICU admission in stroke patients treated with EVT.

Material And Methods: We performed an observational study comparing data from our traditional ICU-GA based SOC and the adaptive SU-Conscious Sedation (CS) based SOC (consecutive patients undergoing EVT 1 year prior and after onset of the pandemic).

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Objectives: Some patients with deep intracerebral hemorrhage (ICH) have a transient hypertensive response and they may be erroneously classified as secondary to hypertension. We investigated frequency, risk factors, and outcomes for patients with deep ICH without hypertension.

Materials And Methods: We consecutively recruited patients with spontaneous ICH attending two Spanish stroke centers (January 2015-June 2019).

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Cerebral cavernous malformations (CCMs) are dilated aberrant leaky capillaries located in the Central Nervous System. Familial CCM is an autosomal dominant inherited disorder related to mutations in KRIT1, Malcavernin or PDCD10. We show two unrelated families presenting familial CCM due to two new mutations in KRIT1 and PDCD10, producing truncated proteins.

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The autoimmune GFAP astrocytopathy has been associated with meningoencephalomyelitis that usually responds to glucocorticoids. We report a 20-year-old man that developed an acute and severe meningoencephalomyelitis with remarkable CNS hyperexcitability and oculogyric crises. CSF analysis showed hypoglycorrhachia, pleocytosis, elevated ADA, and CSF-immunofluorescence characteristic of autoimmune GFAP astrocytopathy.

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Botulism is a life-threatening presynaptic disorder of the neuromuscular transmission produced by the neurotoxin elaborated by the botulinum neurotoxin-producing clostridia. We describe the management of a case series of 14 patients, members of 5 different families that were exposed to home-canned tuna and developed symptoms compatible with a mild clinical presentation of foodborne botulism. The electrophysiological study of the index case represented a reliable diagnostic test as it demonstrated a slight presynaptic dysfunction of the neuromuscular junction.

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Cerebral venous thrombosis (CVT) is characterized by its variety of neurological manifestations and difficulty in diagnosis. In subacute cases, the main symptoms are secondary to increased intracranial pressure. This condition is associated with an extensive range of medical disorders, but only 2% are caused by a CNS infection in recent series.

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