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121 hot topic(s) found with the query "Amyotrophic lateral sclerosis"

Amyotrophic lateral sclerosis: translating genetic discoveries into therapies.
Fulya Akçimen et al. Nat Rev Genet 2023 4 (9) 642-658 (Posted: Mar 27, 2024 1PM)

From the abstract: "Recent advances in sequencing technologies and collaborative efforts have led to substantial progress in identifying the genetic causes of amyotrophic lateral sclerosis (ALS). This momentum has, in turn, fostered the development of putative molecular therapies. In this Review, we outline the current genetic knowledge, emphasizing recent discoveries and emerging concepts such as the implication of distinct types of mutation, variability in mutated genes in diverse genetic ancestries and gene–environment interactions. "

Rare variant and polygenic analyses of amyotrophic lateral sclerosis in the French-Canadian genome
JP Ross et al, Genetics in Medicine, August 25, 2023 (Posted: Aug 25, 2023 8AM)

From the abstract: "The genetic etiology of amyotrophic lateral sclerosis (ALS) includes few rare, large-effect variants and potentially many common, small-effect variants per case. The genetic risk liability for ALS might require a threshold comprised of a certain amount of variants. Here, we tested the degree to which risk for ALS was affected by rare variants in ALS genes, polygenic risk score, or both."

At-home wearables and machine learning sensitively capture disease progression in amyotrophic lateral sclerosis
AS Gupta et al, Nature Comm. August 21, 2023 (Posted: Aug 22, 2023 9AM)

We investigate the use of wearable sensors, worn on four limbs at home during natural behavior, to quantify motor function and disease progression in 376 individuals with amyotrophic lateral sclerosis. We use an analysis approach that automatically detects and characterizes submovements from passively collected accelerometer data and produces a machine-learned severity score for each limb that is independent of clinical ratings. We show that this approach produces scores that progress faster than the gold standard Amyotrophic Lateral Sclerosis Functional Rating Scale.

Wearable device and smartphone data quantify ALS progression and may provide novel outcome measures
SA Johnson et al, NPJ Digital Medicine, March 6, 2023 (Posted: Mar 06, 2023 6PM)

Amyotrophic lateral sclerosis (ALS) therapeutic development has largely relied on staff-administered functional rating scales to determine treatment efficacy. We sought to determine if mobile applications (apps) and wearable devices can be used to quantify ALS disease progression through active (surveys) and passive (sensors) data collection. Forty ambulatory adults with ALS were followed for 6-months.

Integrative genetic analysis illuminates ALS heritability and identifies risk genes.
Megat Salim et al. Nature communications 2023 1 (1) 342 (Posted: Jan 24, 2023 8AM)

We show that ALS heritability is enriched in splicing variants and in binding sites of 6 RNA-binding proteins including TDP-43 and FUS. A transcriptome wide association study (TWAS) identified 6 loci associated with ALS, including in NUP50 encoding for the nucleopore basket protein NUP50. Independently, rare variants in NUP50 were associated with ALS risk (P?=?3.71.10-03; odds ratio = 3.29; 95%CI, 1.37 to 7.87) in a cohort of 9,390 ALS/FTD patients and 4,594 controls.

ALS therapy hits molecular mark but misses clinical one
K O'Leary, Nature Medicine, October 3, 2022 (Posted: Oct 03, 2022 8AM)

At week 24, those receiving tofersen showed a reduction in concentrations of toxic SOD1 protein and markers of neuronal injury. Despite this, there was no significant difference in the primary endpoint — the rate of functional decline (according to the ALS Functional Rating Scale-Revised) – between the tofersen group (-6.98 points) and the placebo group (-8.14 points).

Biomarker data prove critical for ALS drug evaluation at FDA.
Carvalho Thiago et al. Nature medicine 2022 9 (Posted: Oct 01, 2022 7AM)

All the proposed and approved treatments aim to slow a patient’s rate of functional decline and prolong life, but reversing damage in neurodegenerative conditions is a more elusive goal. A better understanding of ALS should lead to earlier detection and treatment, stopping or slowing the disease before patients develop a severe, progressive loss of motor function.

A machine-learning based objective measure for ALS disease severity
FG Vieira et al, NPJ Digital Medicine, April 8, 2022 (Posted: Apr 09, 2022 2PM)

We developed a machine learning (ML) based objective measure for ALS disease severity based on voice samples and accelerometer measurements from a four-year longitudinal dataset. 584 people living with ALS consented and carried out prescribed speaking and limb-based tasks. 542 participants contributed 5814 voice recordings, and 350 contributed 13,009 accelerometer samples, while simultaneously measuring ALSFRS-R scores.

Predictive genetic testing for Motor neuron disease: time for a guideline?
A McNeil et al, EJHG, April 5, 2022 (Posted: Apr 05, 2022 7AM)

Until recently, predictive testing for motor neuron disease (MND, also known as amyotrophic lateral sclerosis (ALS)) was available to only a small proportion of families who had a known disease causing genetic variant in a limited group of causal genes (e.g. SOD1). However, the application of newer genomic technologies has identified many more genes linked to MND (e.g. c9orf72). Even in the absence of a family history of MND, comprehensive genomic approaches (c9orf72 expansion testing, followed by gene panel testing) can identify a causal genetic variant in around 20% of MND probands of Western European ethnicity.

Amyotrophic lateral sclerosis - insight into susceptibility.
Todd Tiffany W et al. Nature reviews. Neurology 2022 2 (Posted: Mar 20, 2022 1PM)

The largest genome-wide association study of amyotrophic lateral sclerosis to date has identified new risk loci and provided insight into factors that influence susceptibility to the disease, highlighting the possibility that disease risk and disease progression are influenced by separate factors, with therapeutic implications.

New antisense oligonucleotide therapies reach first base in ALS
A Lopez, Nature Medicine, January 24, 2022 (Posted: Jan 26, 2022 7AM)

In 1993, mutations in the superoxide dismutase 1 (SOD1) gene were the first genetic cause identified in amyotrophic lateral sclerosis (ALS), a neurological disease characterized by rapidly progressive paralysis and death from respiratory failure. Today, an ever-evolving list of genes has been implicated in ALS, also known as Lou Gehrig’s disease after the eponymous baseball player who died of the condition in 1941. Although most cases of ALS are sporadic and of unknown etiology, the cases linked to gene mutations offer an opportunity to use genetic approaches to treat the disease.

Genetic counselling and testing for neurodegenerative disorders using a proposed standard of practice for ALS/MND: diagnostic testing comes first
A Crook et al, EJHG, January 5, 2022 (Posted: Jan 05, 2022 9AM)

Amyotrophic lateral sclerosis (ALS, commonly referred to as motor neuron disease (MND) in some countries) is a neurodegenerative disorder with an incidence of ~2.31 per 100,000 in Europe. About 20% of cases are caused by a pathogenic variant in one of several causative genes, and family history cannot be relied upon to confirm the presence of all pathogenic variants. This finding, along with the emergence of genotype-driven antisense oligonucleotide (ASO) therapies, is driving increased interest in diagnostic genetic testing for ALS/MND and associated frontotemporal dementia (FTD).

Translating amyotrophic lateral sclerosis genes into drug development leads
S Sahdeo et al, Nature Genetics, December 10, 2021 (Posted: Dec 11, 2021 8AM)

Although clear genetic connections to ALS were first established three decades ago, there has been negligible progress in the development of disease-modifying treatments for this disease. Despite tremendous unmet need, industry has often been largely baffled by a disease seemingly designed to thwart current effective drug development approaches. In the largest genetic study of ALS to date, a new study uses sophisticated analyses to gain novel insights into its pathogenesis.

Common and rare variant association analyses in amyotrophic lateral sclerosis identify 15 risk loci with distinct genetic architectures and neuron-specific biology
W van Rheenen et al, Nature Genetics, December 6, 2021 (Posted: Dec 07, 2021 7AM)

We conducted a cross-ancestry genome-wide association study (GWAS) including 29,612 patients with ALS and 122,656 controls, which identified 15 risk loci. When combined with 8,953 individuals with whole-genome sequencing (6,538 patients, 2,415 controls) and a large cortex-derived expression quantitative trait locus (eQTL) dataset (MetaBrain), analyses revealed locus-specific genetic architectures in which we prioritized genes either through rare variants, short tandem repeats or regulatory effects. ALS-associated risk loci were shared with multiple traits within the neurodegenerative spectrum but with distinct enrichment patterns across brain regions and cell types. Of the environmental and lifestyle risk factors obtained from the literature, Mendelian randomization analyses indicated a causal role for high cholesterol levels.

Childhood amyotrophic lateral sclerosis caused by excess sphingolipid synthesis
P Mohassel et al, Nature Medicine, May 2021 (Posted: Jun 02, 2021 10PM)

Here we show SPTLC1 variants that result in unrestrained sphingoid base synthesis cause a monogenic form of ALS. We identified four specific, dominantly acting SPTLC1 variants in seven families manifesting as childhood-onset ALS.

Polygenic risk score analysis for amyotrophic lateral sclerosis leveraging cognitive performance, educational attainment and schizophrenia
R Restuadi et al, EJHG, April 27, 2021 (Posted: Apr 27, 2021 8AM)

Value of systematic genetic screening of patients with amyotrophic lateral sclerosis.
Shepheard Stephanie R et al. Journal of neurology, neurosurgery, and psychiatry 2021 Feb (Posted: Feb 19, 2021 10AM)

Routine screening for ALS-associated pathogenic mutations in a specialised ALS referral clinic will impact clinical care in 21% of cases. An additional 21% of patients have variants in the ALS gene panel currently of unconfirmed significance after removing non-specific or predicted benign variants. Overall, variants within known ALS-linked genes are of potential clinical importance in 42% of patients.

Opening the door to gene therapy for ALS
H Stower, Nature Medicine, August 7, 2020 (Posted: Aug 10, 2020 8AM)

Two studies show the potential of RNA-based gene-therapy approaches in the treatment of amyotrophic lateral sclerosis (ALS). ALS is a neurodegenerative disease that in 10% of patients is caused by a mutation in the gene encoding superoxide dismutase 1 (SOD1), and targeting this gene is a therapeutic approach in development.

ALS Research Notification for Clinical Trials and Studies
CDC/ATSDR, July 2020 Brand (Posted: Jul 21, 2020 7AM)

The Beginning of Genomic Therapies for ALS.
Hardiman Orla et al. The New England journal of medicine 2020 Jul (2) 180-181 (Posted: Jul 09, 2020 9AM)

Two studies have shown that a precision-medicine approach to the treatment of neurodegenerative conditions associated with single mutated genes may be within reach. But the studies were not powered to provide evidence of efficacy.

Phase 1-2 Trial of Antisense Oligonucleotide Tofersen for SOD1 ALS.
Miller Timothy et al. The New England journal of medicine 2020 Jul (2) 109-119 (Posted: Jul 09, 2020 9AM)

SOD1 Suppression with Adeno-Associated Virus and MicroRNA in Familial ALS.
Mueller Christian et al. The New England journal of medicine 2020 Jul (2) 151-158 (Posted: Jul 09, 2020 9AM)

Prediction of caregiver burden in amyotrophic lateral sclerosis: a machine learning approach using random forests applied to a cohort study.
Antoniadi Anna Markella et al. BMJ open 2020 Feb 10(2) e033109 (Posted: Mar 04, 2020 9AM)

The ALS Registry: Hope for Patients, Resources for Research
CDC,October 2019 Brand (Posted: Oct 16, 2019 5AM)

The National ALS Registry helps gather confidential information from those who are living with this disease. It is the only population-based registry in the U.S. that collects information to help scientists learn more about who gets ALS and its causes. Nearly 17,000 people in the U.S. are living with ALS.

ALS gene may be a hitchhiker’s guide to the neuron
NIH, September 19, 2019 Brand (Posted: Sep 21, 2019 1PM)

ALS is a paralyzing and highly fatal neurodegenerative disorder for which there are no effective treatments. Scientists peered inside neurons and watched the workings of annexin A11, a gene linked to a rare form of ALS. They found that neurons may normally use the gene to ship internal housekeeping instructions via a newly discovered “hitchhiking” system.

Mutations in the SPTLC1 gene are a cause of amyotrophic lateral sclerosis that may be amenable to serine supplementation
JO Johnson et al, BioRXIV, September 19, 2019 (Posted: Sep 20, 2019 8AM)

Using exome sequencing, we identified a de novo variant in SPTLC1 resulting in a p.Ala20Ser amino acid change in an individual diagnosed with juvenile-onset amyotrophic lateral sclerosis, and showed elevated plasma levels of neurotoxic deoxymethyl-sphinganine. We corrected the toxicity in HEK293FT cells using L-serine supplementation.

Update on amyotrophic lateral sclerosis genetics.
Brenner David et al. Current opinion in neurology 2019 Jul (Posted: Jul 31, 2019 9AM)

ALS is a neurodegenerative disorder with a high contribution of genetic factors to pathogenesis. State-of-the art sequencing techniques continue to reveal novel monogenic causes for ALS, risk factors and modifiers. This leads to an improved genotype/phenotype correlation and is becoming increasingly relevant for genetic diagnosis, counseling and therapy.

Rare variants in MYH15 modify amyotrophic lateral sclerosis risk
Kin H. et al. Human Molecular Genetics, Volume 28, Issue 14, 15 July 2019, Pages 2309?2318 (Posted: Jul 15, 2019 3PM)

I have ALS. I wish a polygenic analysis had told me it was coming
R Desikan, Stat News, April 30, 2019 (Posted: Apr 30, 2019 1PM)

Lack of consensus in ALS genetic testing practices and divergent views between ALS clinicians and patients.
Klepek Holly et al. Amyotrophic lateral sclerosis & frontotemporal degeneration 2019 Apr 1-6 (Posted: Apr 03, 2019 9AM)

Partitioning the genetic architecture of amyotrophic lateral sclerosis
IJ Broce et al, BioRXIV, February 24, 2019 (Posted: Feb 25, 2019 9AM)

RNA-Seq profiling in peripheral blood mononuclear cells of amyotrophic lateral sclerosis patients and controls.
Zucca Susanna et al. Scientific data 2019 Feb 190006 (Posted: Feb 19, 2019 10AM)

Shared polygenic risk and causal inferences in amyotrophic lateral sclerosis.
Bandres-Ciga Sara et al. Annals of neurology 2019 Feb (Posted: Feb 19, 2019 10AM)

Motor neuron disease-associated loss of nuclear TDP-43 is linked to DNA double-strand break repair defects.
Mitra Joy et al. Proceedings of the National Academy of Sciences of the United States of America 2019 Feb (Posted: Feb 19, 2019 10AM)

Younger age of onset in familial amyotrophic lateral sclerosis is a result of pathogenic gene variants, rather than ascertainment bias.
Mehta Puja R et al. Journal of neurology, neurosurgery, and psychiatry 2018 Sep (Posted: Feb 15, 2019 9AM)

Identification of biomarkers for amyotrophic lateral sclerosis by comprehensive analysis of exosomal mRNAs in human cerebrospinal fluid.
Otake Kentaro et al. BMC medical genomics 2019 Jan (1) 7 (Posted: Jan 14, 2019 9AM)

Prevalence of Amyotrophic Lateral Sclerosis - United States, 2015.
Mehta Paul et al. MMWR. Morbidity and mortality weekly report 2018 Nov (46) 1285-1289 (Posted: Nov 26, 2018 11AM)

Causal Effects of Blood Lipids on Amyotrophic Lateral Sclerosis: A Mendelian Randomization Study.
Zeng Ping et al. Human molecular genetics 2018 Nov (Posted: Nov 19, 2018 9AM)

Current knowledge and recent insights into the genetic basis of amyotrophic lateral sclerosis.
Volk Alexander E et al. Medizinische Genetik : Mitteilungsblatt des Berufsverbandes Medizinische Genetik e.V 2018 30(2) 252-258 (Posted: Sep 19, 2018 9AM)

An Appalachian odyssey: Hunting for ALS genes along a sprawling family tree
E Boodman, Stat News, August 5, 2018 (Posted: Aug 06, 2018 8AM)

Initial Identification of a Blood-Based Chromosome Conformation Signature for Aiding in the Diagnosis of Amyotrophic Lateral Sclerosis.
Salter Matthew et al. EBioMedicine 2018 Jun (Posted: Jun 27, 2018 9AM)

Genetic polymorphisms in amyotrophic lateral sclerosis: Evidence for implication in detoxification pathways of environmental toxicants.
Dardiotis Efthimios et al. Environment international 2018 Apr 122-135 (Posted: May 11, 2018 11AM)

May is ALS Awareness Month; the ALS Registry Offers Hope
Brand (Posted: May 07, 2018 8AM)

Next Generation Sequencing and ALS: known genes, different phenotyphes.
Campopiano Rosa et al. Archives italiennes de biologie 2017 Dec (4) 110-117 (Posted: Mar 14, 2018 11AM)

The epidemiology and genetics of Amyotrophic lateral sclerosis in China.
Liu Xiaolu et al. Brain research 2018 Mar (Posted: Mar 14, 2018 11AM)

Prevalence of Amyotrophic Lateral Sclerosis - United States, 2014.
Mehta Paul et al. MMWR. Morbidity and mortality weekly report 2018 Feb (7) 216-218 (Posted: Mar 14, 2018 11AM)

National ALS Biorepository
Brand (Posted: Feb 19, 2018 1PM)

Motor Neuron Gene Therapy: Lessons from Spinal Muscular Atrophy for Amyotrophic Lateral Sclerosis.
Tosolini Andrew P et al. Frontiers in molecular neuroscience 2017 405 (Posted: Feb 06, 2018 0PM)

Causative Genes in Amyotrophic Lateral Sclerosis and Protein Degradation Pathways: a Link to Neurodegeneration.
Maurel C et al. Molecular neurobiology 2018 Jan (Posted: Feb 06, 2018 0PM)

RNA-Targeted Therapies and Amyotrophic Lateral Sclerosis.
Mathis Stéphane et al. Biomedicines 2018 Jan (1) (Posted: Feb 06, 2018 0PM)

Patients with sporadic and familial amyotrophic lateral sclerosis found value in genetic testing.
Wagner Karin N et al. Molecular genetics & genomic medicine 2017 Dec (Posted: Jan 03, 2018 10AM)

CDC Grand Rounds: National Amyotrophic Lateral Sclerosis (ALS) Registry Impact, Challenges, and Future Directions.
Mehta Paul et al. MMWR. Morbidity and mortality weekly report 2017 Dec (50) 1379-1382 (Posted: Dec 28, 2017 10AM)

The Knowns and Unknowns about Amyotrophic Lateral Sclerosis (ALS)
CDC Environmental Health Blog, 2017 Brand (Posted: Dec 14, 2017 7PM)

RNA-Seq reveals a novel therapeutic strategy for ALS treatment
RNA Seq Blog, Dec 12, 2017 (Posted: Dec 13, 2017 8AM)

Whole exome sequencing and DNA methylation analysis in a clinical amyotrophic lateral sclerosis cohort.
Garton Fleur C et al. Molecular genetics & genomic medicine 2017 Jul 5(4) 418-428 (Posted: Jul 26, 2017 9AM)

Genetic screening in sporadic ALS and FTD.
Turner Martin R et al. Journal of neurology, neurosurgery, and psychiatry 2017 Jun (Posted: Jun 28, 2017 10AM)

Predictive genetic testing for amyotrophic lateral sclerosis and frontotemporal dementia: genetic counselling considerations.
Crook Ashley et al. Amyotrophic lateral sclerosis & frontotemporal degeneration 2017 Jun 1-11 (Posted: Jun 07, 2017 9AM)

Evaluating a Gene-Environment Interaction in Amyotrophic Lateral Sclerosis: Methylmercury Exposure and Mutated SOD1.
Bailey Jordan M et al. Current environmental health reports 2017 Jun (2) 200-207 (Posted: May 30, 2017 7AM)

A New Drug for A.L.S., but the Diagnosis Remains Dire
JE Brody, New York Times, May 29, 2017 (Posted: May 30, 2017 6AM)

Clinical Trials and Studies Using the National Amyotrophic Lateral Sclerosis Registry
Brand (Posted: Apr 19, 2017 0PM)

Genetics insight into the amyotrophic lateral sclerosis/frontotemporal dementia spectrum.
Ji Ai-Ling et al. Journal of medical genetics 2017 Mar (3) 145-154 (Posted: Apr 04, 2017 9AM)

National Amyotrophic lateral sclerosis (ALS) Registry -- Impact, Challenges, and Future Directions
CDC Public Health Grand Rounds, April 18, 2017 Brand (Posted: Apr 04, 2017 9AM)

Gene discovery in amyotrophic lateral sclerosis: implications for clinical management.
Al-Chalabi Ammar et al. Nature reviews. Neurology 2017 Feb (2) 96-104 (Posted: Feb 13, 2017 10AM)

Genetic testing in ALS: A survey of current practices.
Vajda Alice et al. Neurology 2017 Feb (Posted: Feb 08, 2017 9AM)

Decoding ALS: from genes to mechanism
JP Taylor et al, Nature Insights, November 2016 (Posted: Nov 14, 2016 9PM)

Patients with Amyotrophic Lateral Sclerosis Have High Interest in and Limited Access to Genetic Testing.
Wagner Karin N et al. Journal of genetic counseling 2016 Oct (Posted: Oct 26, 2016 10AM)

Pathogenesis of amyotrophic lateral sclerosis.
Morgan Sarah et al. British medical bulletin 2016 Sep (1) 87-98 (Posted: Oct 04, 2016 3PM)

Research funded by the National ALS Registry
Brand (Posted: Oct 04, 2016 3PM)

ALS Registry Turns 6
Brand (Posted: Oct 04, 2016 3PM)

ALS: A bucket of genes, environment, metabolism and unknown ingredients.
Zufiría Mónica et al. Progress in neurobiology 2016 Jul 104-29 (Posted: Aug 23, 2016 9AM)

National ALS Registry Releases Updated Prevalence Estimates
CDC press release, August 4, 2016 Brand (Posted: Aug 06, 2016 10AM)

The ‘Ice Bucket Challenge’ Helped Scientists Discover a New Gene Tied to A.L.S.
New York Times, July 27, 2016 (Posted: Jul 29, 2016 10AM)

From animal models to human disease: a genetic approach for personalized medicine in ALS
V Picher-Martel et al, Acta Neuropathologica CommunicationsNeuroscience of Disease20164:70 (Posted: Jul 25, 2016 8PM)

Genome-wide association analyses identify new risk variants and the genetic architecture of amyotrophic lateral sclerosis
W van Rheenen et al, Nature Genetics, July 25, 2016 (Posted: Jul 25, 2016 8PM)

ALS: Recent Developments from Genetics Studies.
Therrien Martine et al. Current neurology and neuroscience reports 2016 Jun (6) 59 (Posted: Apr 30, 2016 8AM)

Announcement: Amyotrophic Lateral Sclerosis (ALS) Awareness Month — May 2016
Brand (Posted: Apr 30, 2016 8AM)

Major histocompatibility complex class I molecules protect motor neurons from astrocyte-induced toxicity in amyotrophic lateral sclerosis
SW Song et al, Nature Medicine, February 29, 2016 (Posted: Feb 29, 2016 3PM)

Metabolomics in amyotrophic lateral sclerosis: how far can it take us?
Blasco H et al. European journal of neurology 2016 Jan (Posted: Feb 24, 2016 1PM)

The interplay between metabolic homeostasis and neurodegeneration: insights into the neurometabolic nature of amyotrophic lateral sclerosis.
Ngo S T et al. Cell regeneration (London, England) 2015 (1) 5 (Posted: Oct 13, 2015 1PM)

Genotype-phenotype relationship in hereditary amyotrophic lateral sclerosis.
Yamashita Satoshi et al. Translational neurodegeneration 2015 13 (Posted: Oct 13, 2015 1PM)

Clinical Trials of Therapies for Amyotrophic Lateral Sclerosis: One Size Does Not Fit All.
Goutman Stephen A et al. JAMA neurology 2015 Jul (7) 743-4 (Posted: Oct 13, 2015 1PM)

Metabolomics of Neurodegenerative Diseases.
Botas Alejandro et al. International review of neurobiology 2015 53-80 Brand (Posted: Oct 13, 2015 1PM)

Heritability of Amyotrophic Lateral SclerosisInsights From Disparate Numbers
RL McLaughlin et al. JAMA Neurology, June 1, 2015 (Posted: Jun 01, 2015 1PM)

Is Innate Immunity And Inflammasomes Involved In Pathogenesis of Amyotrophic Lateral Sclerosis (ALS)?
Volpe Caroline M O et al. Recent Pat Endocr Metab Immune Drug Discov 2015 Apr 7. (Posted: May 12, 2015 7AM)

Amyotrophic lateral sclerosis: mechanisms and therapeutics in the epigenomic era.
Paez-Colasante Ximena et al. Nat Rev Neurol 2015 May (5) 266-279 (Posted: May 12, 2015 7AM)

Identification of rare protein disulfide isomerase gene variants in amyotrophic lateral sclerosis patients.
Gonzalez-Perez Paloma et al. Gene 2015 Apr 22. (Posted: May 12, 2015 7AM)

The role of TREM2 R47H as a risk factor for Alzheimer's disease, frontotemporal lobar degeneration, amyotrophic lateral sclerosis, and Parkinson's disease.
Lill Christina M et al. Alzheimers Dement 2015 Apr 29. (Posted: May 12, 2015 7AM)

Whole genome analyses reveal no pathogenetic single nucleotide or structural differences between monozygotic twins discordant for amyotrophic lateral sclerosis.
Meltz Steinberg Karyn et al. Amyotroph Lateral Scler Frontotemporal Degener 2015 May 11. 1-8 (Posted: May 12, 2015 7AM)

Homozygosity mapping in an Irish ALS case-control cohort describes local demographic phenomena and points towards potential recessive risk loci.
McLaughlin Russell L et al. Genomics 2015 Apr (4) 237-41 (Posted: Apr 02, 2015 11AM)

ALS-causative mutations in FUS/TLS confer gain and loss of function by altered association with SMN and U1-snRNP.
Sun Shuying et al. Nat Commun 2015 6171 (Posted: Apr 02, 2015 11AM)

Psychiatric genetics, neurogenetics, and neurodegeneration.
Kerner Berit et al. Front Genet 2014 467 (Posted: Apr 02, 2015 11AM)

Network Analyses Reveal Novel Aspects of ALS Pathogenesis.
Sanhueza Mario et al. PLoS Genet. 2015 Mar (3) e1005107 (Posted: Apr 02, 2015 11AM)

Exome sequencing of case-unaffected-parents trios reveals recessive and de novo genetic variants in sporadic ALS.
Steinberg Karyn Meltz et al. Sci Rep 2015 9124 (Posted: Apr 02, 2015 11AM)

Exome sequencing in amyotrophic lateral sclerosis identifies risk genes and pathways.
Cirulli Elizabeth T et al. Science 2015 Mar 27. (6229) 1436-1441 (Posted: Apr 02, 2015 11AM)

CDC Information: National ALS Registry Makes a Difference
Brand (Posted: Feb 25, 2015 0PM)

National Amyotrophic Lateral Sclerosis (ALS) Registry
Brand (Posted: Feb 25, 2015 0PM)

Exome-wide rare variant analysis identifies TUBA4A mutations associated with familial ALS.
Smith Bradley N et al. Neuron 2014 Oct 22. (2) 324-31 (Posted: Feb 23, 2015 10AM)

Amyotrophic Lateral Sclerosis Genetic Studies: From Genome-wide Association Mapping to Genome Sequencing.
He Ji et al. Neuroscientist 2014 Nov 5. (Posted: Feb 23, 2015 10AM)

Amyotrophic lateral sclerosis onset is influenced by the burden of rare variants in known amyotrophic lateral sclerosis genes.
Cady Janet et al. Ann. Neurol. 2015 Jan (1) 100-13 (Posted: Feb 23, 2015 10AM)

A second-generation Irish genome-wide association study for amyotrophic lateral sclerosis.
McLaughlin Russell L et al. Neurobiol. Aging 2015 Feb (2) 1221.e7-1221.e13 (Posted: Feb 23, 2015 10AM)

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Disclaimer: Articles listed in Hot Topics of the Day are selected by Public Health Genomics Branch to provide current awareness of the scientific literature and news. Inclusion in the update does not necessarily represent the views of the Centers for Disease Control and Prevention nor does it imply endorsement of the article's methods or findings. CDC and DHHS assume no responsibility for the factual accuracy of the items presented. The selection, omission, or content of items does not imply any endorsement or other position taken by CDC or DHHS. Opinion, findings and conclusions expressed by the original authors of items included in the Clips, or persons quoted therein, are strictly their own and are in no way meant to represent the opinion or views of CDC or DHHS. References to publications, news sources, and non-CDC Websites are provided solely for informational purposes and do not imply endorsement by CDC or DHHS.
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