Publications by authors named "Esther Suarez San Martin"

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

Background: Intermediate Alleles (IAs) are expansions of CAG repeats in the HTT gene between 27 and 35 repeats which pathogenic meaning remains controversial. They are present in the general population but there is an increasing number of cases with Huntington-like phenotype reported.

Methods: We reviewed the medical records of cases in our centre where the neurologist suspected Huntington's disease (HD) as one of the feasible diagnoses and genetic testing showed the number of CAG repeats was in the "intermediate range".

View Article and Find Full Text PDF
Article Synopsis
  • The study conducted in Spain aimed to explore genetic factors related to Parkinson's Disease (PD) through the largest genome-wide association study focusing on a single country with diverse genetic backgrounds.
  • Researchers analyzed data from 7,849 individuals to find specific genetic signals linked to PD risk and age at onset, discovering new associations particularly with the PARK2 gene and confirming others like SNCA and LRRK2.
  • The findings suggest that Spain's unique genetic diversity can enhance understanding of complex diseases like PD, providing valuable insights for future genetic research.
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