20 documents found, page 1 of 2

A genetic interaction of NRXN2 with GABRE, SYT1 and CASK in migraine patients: ...

Background: Migraine is a multifactorial disorder that is more frequent (two to four times) in women than in men. In recent years, our research group has focused on the role of neurotransmitter release and its regulation. Neurexin (NRXN2) is one of the components of the synaptic vesicle machinery, responsible for connecting intracellular fusion proteins and synaptic vesicles. Our aim was to continue exploring t...

Association between cerebral folate deficiency and hereditary spastic paraplegia

PHACTR1 genetic variability is not critical in small vessel ischemic disease pa...

Recently, several genome-wide association studies identified PHACTR1 as key locus for five diverse vascular disorders: coronary artery disease, migraine, fibromuscular dysplasia, cervical artery dissection and hypertension. Although these represent significant risk factors or comorbidities for ischemic stroke, PHACTR1 role in brain small vessel ischemic disease and ischemic stroke most important survival mechan...

Beyond Val30Met transthyretin (TTR): variants associated with age-at-onset in h...

Objectives: Val30Met in transthyretin (TTR) gene is causative for familial amyloid polyneuropathy (FAP). FAP shows a wide variation in age-at-onset (AO) between clusters, families, and among generations. We aim at identifying genetic modifiers of disease onset that may contribute to this variability in Portuguese patients by identifying other variants in TTR locus, beyond the TTR-FAP causing variant that could ...

New Insights into the Anterior Complex

Objective: To introduce visualization of the germinal matrix (GM), external angle of the frontal horn, and periventricular white matter while evaluating the anterior complex (AC) during basic ultrasound assessment of the fetal brain. Case presentations: This is a retrospective observational study of healthy women with singleton pregnancies, with no increased risk of fetal central nervous system anomalies, atten...

Novel mag variant causes cerebellar ataxia with oculomotor apraxia: Molecular b...

Homozygous variants in MAG, encoding myelin-associated glycoprotein (MAG), have been associated with complicated forms of hereditary spastic paraplegia (HSP). MAG is a glycoprotein member of the immunoglobulin superfamily, expressed by myelination cells. In this study, we identified a novel homozygous missense variant in MAG (c.124T>C; p.Cys42Arg) in a Portuguese family with early-onset autosomal recessive cere...

Complex movement disorders in Ataxia with oculomotor apraxia type 1: Beyond the...

Background: Ataxia with oculomotor apraxia (AOA1) is characterized by early-onset progressive cerebellar ataxia with peripheral neuropathy, oculomotor apraxia and hypoalbuminemia and hypercholesterolemia. Case Report: A 23-year-old previously healthy woman presented with slowly-progressive gait impairment since the age of six years. Neurological examination revealed profound areflexia, chorea, generalized dysto...

Determinants of age at onset in a Portuguese cohort of autosomal dominant spast...

Background Hereditary spastic paraplegias present a high variability of age at onset, ranging from childhood to older age. Our objective was to identify the determinants of age at onset in autosomal dominant HSP (AD-HSP) in a large cohort of patients and families. Methods We included 239 patients from 89 families identified in the Portuguese multisource population-based survey of hereditary ataxias and spastic ...

Large Normal Alleles of ATXN2 Decrease Age at Onset in Transthyretin Familial A...

Objective: Transthyretin (TTR)-related familial amyloid polyneuropathy (FAP) is an autosomal dominant neurological disease, caused most frequently by a Val30Met (now classified as Val50Met) substitution in TTR. Age at onset (AO) ranges from 19 to 82 years, and variability exists mostly between generations. Unstable oligonucleotide repeats in various genes are the mechanism behind several neurological diseases, ...

C1QA and C1QC modify age-at-onset in familial amyloid polyneuropathy patients

Objectives: Transthyretin (TTR) familial amyloid polyneuropathy (FAP) (OMIM 176300) shows a variable age-at-onset (AO), including within families. We hypothesized that variants in C1QA and C1QC genes, might also act as genetic modifiers of AO in TTR-FAP Val30Met Portuguese patients. Methods: We analyzed DNA samples of 267 patients (117 families). To search for variants, all exons and flanking regions were genot...