showing 8 related works from this author
Regional distribution of the leucine-rich glioma inactivated (LGI) gene family transcripts in the adult mouse brain
2009
25 p., figuras y bibliografía
Clinical profile of motor neuron disease patients with lower urinary tract symptoms and neurogenic bladder
2017
Introduction: Lower urinary tract symptoms (LUTS) are frequent in motor neuron disease (MND) patients, but clinical factors related to them are unknown. We describe differences in LUTS among MND phenotypes and their relationship with other clinical characteristics, including prognosis. Methods: For this study, we collected clinical data of a previously published cohort of patients diagnosed with classical amyotrophic lateral sclerosis (cALS), progressive muscular atrophy (PMA) or primary lateral sclerosis (PLS) with and without LUTS. Familial history was recorded and the C9ORF72 expansion was analysed in the entire cohort Patients were followed-up for survival until August 2016. Results: Fi…
Genetic linkage of autosomal dominant progressive supranuclear palsy to 1q31.1
2005
Progressive supranuclear palsy (PSP) is a disorder of unknown pathogenesis. Familial clusters of PSP have been reported related to mutations of protein tau. We report the linkage of a large Spanish family with typical autosomal dominant PSP to a new locus in chromosome 1. Four members of this family had typical PSP, confirmed by neuropathology in one case. At least five ancestors had similar disease. Other members of the family have incomplete phenotypes. The power of the linkage analysis was increased by detecting presymptomatic individuals with 18F-fluoro-dopa and 18F-deoxyglucose positron emission tomography. We screened the human genome with 340 polymorphic markers and we enriched the a…
Presenilin-1 Mutations Are a Cause of Primary Lateral Sclerosis-Like Syndrome
2021
6 páginas, 2 figuras
LRRK2 is expressed in areas affected by Parkinson's disease in the adult mouse brain.
2006
The leucine-rich repeat kinase 2 (LRRK2) gene was recently found to have multiple mutations that are causative for autosomal dominant inherited Parkinson's disease (PD). Previously, we used Northern blot analysis to show that this gene was expressed in the cerebellum, cerebral cortex, medulla, spinal cord, occipital pole, frontal lobe, temporal lobe and caudate putamen. However, a more comprehensive map of LRRK2 mRNA localization in the central nervous system is still lacking. In this study we have mapped the distribution of the mRNA encoding for LRRK2 using nonradioactive in situ hybridization. We detected a moderate expression of this PD-related gene throughout the adult B2B6 mouse brain.…
Analysis of the C9orf72 gene in patients with amyotrophic lateral sclerosis in Spain and different populations worldwide.
2013
The C9ORF72 Spanish Study Group, et al.
Clinical and neuroimaging characterization of two C9orf72-positive siblings with amyotrophic lateral sclerosis and schizophrenia
2015
C9orf72 expansion is the main genetic cause of amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) and has also been found in a wide spectrum of other neurodegenerative diseases (...
Genetic and constitutional factors are major contributors to substantia nigra hyperechogenicity
2017
9 páginas, 2 figuras, 4 tablas