Publications by authors named "Ciara Garcia-Fernandez"

Parkinsonism-hyperpyrexia syndrome (PHS) is a rare neurological emergency that shares clinical features with neuroleptic malignant syndrome. It is usually due to sudden deprivation of dopaminergic treatment, although there are cases related to failure of the deep brain stimulation system.

View Article and Find Full Text PDF

The NF-κB pathway is involved in the pathogenesis of neurological disorders that have inflammation as a hallmark, including Parkinson's disease (PD). Our objective was to determine whether common functional variants in the NFKB1, NFKBIA and NFKBIZ genes were associated with the risk of PD. A total of 532 Spanish PD cases (61% male; 38% early-onset, ≤ 55 years) and 300 population controls (50% ≤55 years) were genotyped for the NFKB1 rs28362491 and rs7667496, NFKBIA rs696, and NFKBIZ rs1398608 polymorphisms.

View Article and Find Full Text PDF

Background: Previous studies linked disease-progression variables such as age at onset or survival to both genetic, and non-genetic factors in Parkinson's disease (PD) patients.

Objective: The aim of this study was to assess how genetic and non genetic factors act as modifiers of age at onset and survival and in a cohort of 753 PD patients, and to determine how these variables interact to define the overall risk.

Methods: We analyzed the effect of gender, tobacco, alcohol, type of PD (genetic, gPD or idiopathic, iPD) and three genetic variants rs5848- GRN, rs1042522- TP53 and APOE.

View Article and Find Full Text PDF

Background: Many evidences suggest a pathological link between neurodegenerative diseases and cancer. In fact, several epidemiologic studies indicate a decreased incidence of most cancer types in Parkinson's disease (PD) patients and some PD genes are involved in cancer networks.

Objective: The aim of this study is to assess the influence of several factors in the risk of cancer in a cohort of 753 PD patients and to study how these variables interact with each other.

View Article and Find Full Text PDF
Article Synopsis
  • Intermediate Alleles (IAs) in the HTT gene are CAG repeat expansions that range from 27 to 35 repeats; their connection to Huntington's disease (HD) is debated given the increasing reports of Huntington-like symptoms in affected individuals.
  • A review of medical records for suspected HD cases with intermediate CAG repeats highlighted 14 patients who predominantly showed extrapyramidal symptoms and various cognitive and behavioral issues, with particular neuroimaging findings noted in some cases.
  • The study concludes that while some clinical and imaging results resemble HD, they could also indicate other conditions, emphasizing the need for larger studies to better understand the potential link between IAs and HD.
View Article and Find Full Text PDF

Huntington's disease (HD) is an autosomal progressive neurodegenerative disorder caused by the expansion of CAG repeats in the HTT gene. Intermediate alleles (IAs) are in the range of 27-35 repeats and have been associated to a normal phenotype. The aim of this work was to analyze the association between intermediate huntingtin CAG-repeat alleles (IAs) and neurodegenerative diseases, other than HD.

View Article and Find Full Text PDF

Early recognition of psychopathological symptoms (PSs) after stroke is important because they greatly influence the recovery of patients. The aim of this study was to investigate the predictive factors of PSs occurring in patients with ischemic stroke. Eighty-nine patients were prospectively evaluated upon admission and 4, 12, and 26 weeks later with the Neuropsychiatric Inventory, Hamilton's Rating Scales for Depression and Anxiety, and a battery of neuropsychological and functional scales.

View Article and Find Full Text PDF