Kristine Joyce L. Porto
A5017939449- Parkinson's Disease Mechanisms and Treatments
- Neurological diseases and metabolism
- Genetic Neurodegenerative Diseases
- Coenzyme Q10 studies and effects
- Connective tissue disorders research
- Muscle Physiology and Disorders
- Lysosomal Storage Disorders Research
- Neurogenetic and Muscular Disorders Research
- Thyroid and Parathyroid Surgery
- Cancer, Lipids, and Metabolism
- Williams Syndrome Research
- Ion Transport and Channel Regulation
- RNA Research and Splicing
- Congenital limb and hand anomalies
- Cellular transport and secretion
- RNA regulation and disease
- Neonatal Respiratory Health Research
- Aortic aneurysm repair treatments
- RNA modifications and cancer
- Nuclear Receptors and Signaling
- Adolescent and Pediatric Healthcare
- Mitochondrial Function and Pathology
- Genomics and Rare Diseases
- Fatty Acid Research and Health
- Glycogen Storage Diseases and Myoclonus
The University of Tokyo
2020-2024
University of Tokyo Hospital
2021-2022
Bunkyo University
2020
St. Luke's Medical Center
2017-2020
Functionally impaired variants of COQ2, encoding an enzyme in biosynthesis coenzyme Q10 (CoQ10), were found familial multiple system atrophy (MSA) and V393A COQ2 is associated with sporadic MSA. Furthermore, reduced levels CoQ10 have been demonstrated MSA patients.This study was a multicentre, randomised, double-blinded, placebo-controlled phase 2 trial. Patients randomly assigned (1:1) to either ubiquinol (1500 mg/day) or placebo. The primary efficacy outcome the change unified rating scale...
Abstract The striatonigral and olivopontocerebellar systems are known to be vulnerable in multiple system atrophy (MSA), showing neuronal loss, astrogliosis, alpha‐synuclein‐immunoreactive inclusions. MSA patients who displayed abundant cytoplasmic inclusions (NCIs) the regions other than or have occasionally been diagnosed with variants of MSA. In this study, we report clinical pathologic findings characterized by prominent involvement hippocampus. We assessed 146 consecutively autopsied...
Abstract To elucidate the molecular basis of multiple system atrophy (MSA), a neurodegenerative disease, we conducted genome-wide association study (GWAS) in Japanese MSA case/control series followed by replication studies Japanese, Korean, Chinese, European and North American samples. In GWAS stage rs2303744 on chromosome 19 showed suggestive ( P = 6.5 × 10 −7 ) that was replicated additional samples 2.9 −6 . OR 1.58; 95% confidence interval, 1.30 to 1.91), then confirmed as highly...
Abstract Congenital contractural arachnodactyly (CCA) is caused by pathogenic FBN2 variants; however, the contributions of copy number variations (CNVs) to CCA are still unknown. Here, we report on a familial case CCA, in which novel multiexon deletion exons 35–39 was identified after simple CNV prediction.
Abstract To elucidate the molecular basis of multiple system atrophy (MSA), a neurodegenerative disease, we conducted genome-wide association study (GWAS) in Japanese MSA case/control series followed by replication studies Japanese, Korean, Chinese, European, and North American samples. In GWAS stage, rs2303744 on chromosome 19 showed suggestive ( P = 6.5 × 10 − 7 ) that was replicated additional samples 2.9 6 , odds ratio (OR) 1.58; 95% confidence interval (CI), 1.30–1.91), then confirmed...
Background: Functionally impaired variants of COQ2 , encoding an enzyme in biosynthesis coenzyme Q10 (CoQ10), were found familial multiple system atrophy (MSA) and V393A is associated with sporadic MSA. Furthermore, reduced levels CoQ10 have been demonstrated MSA patients.Methods: This syudy was a multicentre, randomised, double-blinded, placebo-controlled phase 2 trial. Patients randomly assigned (1:1) to either group ubiquinol (1,500 mg/day) or placebo. The primary efficacy outcome the...
Abstract We present a 34‐year‐old woman, from Philippines, diagnosed limb‐girdle muscular dystrophy type 2B with compound heterozygous nonsense mutation W1478* and novel deletion of exons 43‐46 the dysferlin gene. These loss‐of‐function mutations do not seem to be predictive severer clinical course. report first identification microhomologous region 2 bp (TG) identical sequences surrounding breakpoint junction. Detailed analysis deleted allele should pursued in order better understand...
We herein report a 78-year-old woman with Gaucher disease (GD) who was initially diagnosed GD type 1, had been receiving long-term enzyme replacement therapy since 58 years old, and developed neurological manifestations in her 70s. The included myoclonic seizures progressive cognitive decline. Although it is rare for patients to first develop neurologic at such an advanced age, physicians engaged care should be alert this possibility.
Abstract X‐linked adrenoleukodystrophy (X‐ALD) is the most common peroxisomal disorder caused by a mutation in ABCD1 gene. We present 36‐year‐old, Filipino male, diagnosed with adrenomyeloneuropathy later development of adult‐onset cerebral form X‐ALD novel c.2012T > C (p.Leu671Pro) exon 10 It important that clinicians have high clinical suspicion because proven efficacy hematopoietic stem cell transplantation performed early stage disease.