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Mashup Score: 7
Background and Objectives Stroke-like episodes (SLEs) in patients with mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS) syndrome are often misdiagnosed as acute ischemic stroke (AIS). We aimed to determine unique clinical and neuroimaging features for SLEs and formulate diagnostic criteria. Methods We retrospectively identified patients with MELAS admitted for…
Source: Neurology GeneticsCategories: Latest Headlines, NeurologyTweet
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Mashup Score: 0Identification of an 85-kb Heterozygous 4p Microdeletion With Full Genome Analysis in Autosomal Dominant Charcot-Marie-Tooth Disease - 11 month(s) ago
Background and Objectives Charcot-Marie-Tooth disease (CMT) is a syndrome of a hereditary neurodegenerative condition affecting the peripheral nervous system and is a single gene disorder. Deep phenotyping coupled with advanced genetic techniques is critical in discovering new genetic defects of rare genetic disorders such as CMT. Methods We applied multidisciplinary investigations to examine…
Source: Neurology GeneticsCategories: Latest Headlines, NeurologyTweet
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Mashup Score: 3Systemic Capillary Leak Syndrome With Cerebral Involvement in a C9orf72 Expansion Carrier - 11 month(s) ago
Objective Systemic capillary leak syndrome (SCLS) is a rare condition associated with episodes of hypotension, hemoconcentration, hypoalbuminemia, and rhabdomyolysis. We describe a middle-aged man presenting with several distinct SCLS-like episodes, the last being fatal. In addition, in the year before the final event, he developed rapid cognitive decline with contrast-enhancing lesions on MRI…
Source: Neurology GeneticsCategories: Latest Headlines, NeurologyTweet
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Mashup Score: 1Cumulative Genetic Score and C9orf72 Repeat Status Independently Contribute to Amyotrophic Lateral Sclerosis Risk in 2 Case-Control Studies - 11 month(s) ago
Background and Objectives Most patients with amyotrophic lateral sclerosis (ALS) lack a monogenic mutation. This study evaluates ALS cumulative genetic risk in an independent Michigan and Spanish replication cohort using polygenic scores. Methods Participant samples from University of Michigan were genotyped and assayed for the chromosome 9 open reading frame 72 hexanucleotide expansion. Final…
Source: Neurology GeneticsCategories: General Medicine News, Latest HeadlinesTweet
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Mashup Score: 2Neurology Genetics: 9 (3) - 11 month(s) ago
Acknowledgment to ReviewersResearch Articles Open Access Exome Sequencing and Multigene Panel Testing in 1,411 Patients With Adult-Onset Neurologic Disorders Nika Schuermans, Hannah Verdin, Jody Ghijsels, Madeleine Hellemans, Elke Debackere, Elke Bogaert, Sofie Symoens, Leslie Naesens, Elien Lecomte, David Crosiers, Bruno Bergmans, Kristof Verhoeven, Bruce Poppe, Guy…
Source: Neurology GeneticsCategories: Latest Headlines, NeurologyTweet
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Mashup Score: 0Analysis of Structural Variants Previously Associated With ALS in Europeans Highlights Genomic Architectural Differences in Africans - 11 month(s) ago
Background and Objectives Amyotrophic lateral sclerosis (ALS) is a degenerative condition of the brain and spinal cord in which protein-coding variants in known ALS disease genes explain a minority of sporadic cases. There is a growing interest in the role of noncoding structural variants (SVs) as ALS risk variants or genetic modifiers of ALS phenotype. In small European samples, specific short…
Source: Neurology GeneticsCategories: Latest Headlines, NeurologyTweet
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Mashup Score: 2Cumulative Genetic Score and C9orf72 Repeat Status Independently Contribute to Amyotrophic Lateral Sclerosis Risk in 2 Case-Control Studies - 11 month(s) ago
Background and Objectives Most patients with amyotrophic lateral sclerosis (ALS) lack a monogenic mutation. This study evaluates ALS cumulative genetic risk in an independent Michigan and Spanish replication cohort using polygenic scores. Methods Participant samples from University of Michigan were genotyped and assayed for the chromosome 9 open reading frame 72 hexanucleotide expansion. Final…
Source: Neurology GeneticsCategories: Latest Headlines, NeurologyTweet-
This study found a polygenic score for ALS can account for cumulative #genetic risk in the population & reflect cellular processes relevant to ALS. If further validated, this could be a valuable tool for ALS risk models & design of #ALS prevention studies. https://t.co/pdJkDVXcUv https://t.co/O4rB2ekJb9
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Mashup Score: 3Complex 4q35 and 10q26 Rearrangements - 12 month(s) ago
Background and Objectives After clinical evaluation, the molecular diagnosis of type 1 facioscapulohumeral dystrophy (FSHD1) relies in most laboratories on the detection of a shortened D4Z4 array at the 4q35 locus by Southern blotting. In many instances, this molecular diagnosis remains inconclusive and requires additional experiments to determine the number of D4Z4 units or identify somatic…
Source: Neurology GeneticsCategories: Latest Headlines, NeurologyTweet
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Mashup Score: 3Autosomal Recessive Spinocerebellar Ataxia Type 9 With a Response to Phosphate Repletion - 12 month(s) ago
Objective Autosomal recessive spinocerebellar ataxia type 9 (SCAR9) has received attention due to its potential response to coenzyme Q10 (CoQ10) supplementation; however, the response has so far been limited and variable. Methods We report a SCAR9 patient with severe hypophosphatemia who responded well to CoQ10 and phosphate repletion. Results A 70-year-old man (the offspring of a…
Source: Neurology GeneticsCategories: Latest Headlines, NeurologyTweet
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Mashup Score: 4Metabolic Stroke as a Clinical Manifestation of Zhu-Tokita-Takenouchi-Kim Syndrome - 12 month(s) ago
Objective This study reports 2 unrelated individuals with Zhu-Tokita-Takenouchi-Kim (ZTTK) syndrome who presented with a metabolic stroke, which has not been commonly reported as a clinical manifestation of this syndrome. Methods Two female children were identified after presenting to our institution with a metabolic stroke and carried a diagnosis of ZTTK syndrome because of their clinical…
Source: Neurology GeneticsCategories: Latest Headlines, NeurologyTweet-
This case series reports 2 unrelated individuals with Zhu-Tokita-Takenouchi-Kim syndrome who presented with a metabolic stroke, which has not been commonly reported as a clinical manifestation of this syndrome. This article is free to read: https://t.co/583m8kUDno #NeuroGenetics https://t.co/83NvNeSY6e
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According to this study, an algorithm using clinical and imaging features can differentiate stroke-like episodes due to #MELAS from acute ischemic strokes. Learn more: https://t.co/PmsVyT77zG #NeuroTwitter https://t.co/Q1VbqQvBB3