Peter M. Andersen
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View article: Somatic gene mutations in the motor cortex of patients with sporadic amyotrophic lateral sclerosis
Somatic gene mutations in the motor cortex of patients with sporadic amyotrophic lateral sclerosis Open
Amyotrophic lateral sclerosis (ALS) is characterized by the progressive degeneration of cortical and spinal motor neurons. Mendelian germline mutations often cause familial ALS (fALS) but only approximately ten percent of sporadic ALS case…
View article: Landscapes of missense variant impact for human superoxide dismutase 1
Landscapes of missense variant impact for human superoxide dismutase 1 Open
Amyotrophic lateral sclerosis (ALS) is a progressive motor neuron disease for which important subtypes are caused by variation in superoxide dismutase 1 (SOD1). Diagnosis based on SOD1 sequencing can not only be definitive but can also ind…
View article: Identification of a presymptomatic and early disease signature for amyotrophic lateral sclerosis (ALS): protocol of the premodiALS study
Identification of a presymptomatic and early disease signature for amyotrophic lateral sclerosis (ALS): protocol of the premodiALS study Open
Introduction The median time to diagnosis of amyotrophic lateral sclerosis (ALS) is approximately 12 months after the onset of first symptoms. This diagnostic delay is primarily due to the nonspecific nature of early symptoms and the clini…
View article: Proposed Research Criteria for Mild Motor Impairment as a Prodromal Syndrome in Amyotrophic Lateral Sclerosis
Proposed Research Criteria for Mild Motor Impairment as a Prodromal Syndrome in Amyotrophic Lateral Sclerosis Open
MMI is a recognizable syndrome. Although nonspecific, it identifies presymptomatic carriers at elevated risk of ALS phenoconversion. Combining MMI with emerging biomarkers of underlying pathology may help differentiate those who are prodro…
View article: Transformed Parenthood in the Face of ALS: A Profound Struggle for Both Ill Parents and Co-parents
Transformed Parenthood in the Face of ALS: A Profound Struggle for Both Ill Parents and Co-parents Open
When a parent is diagnosed with a progressive, fatal neurodegenerative disease, such as amyotrophic lateral sclerosis (ALS), it can have major effects on the family’s health. Parenthood itself may also be affected, potentially fueling an u…
View article: Diverse effects of coexpression of human SOD1 variants on motor neuron disease
Diverse effects of coexpression of human SOD1 variants on motor neuron disease Open
Mutations in superoxide dismutase-1 (SOD1) are a common cause of amyotrophic lateral sclerosis (ALS). Inheritance is as a rule dominant, but in carriers of the most common mutation, D90A, disease can develop in both homozygous and, more ra…
View article: <scp>SOD1</scp> Protein Content in Human Central Nervous System and Peripheral Tissues
<span>SOD1</span> Protein Content in Human Central Nervous System and Peripheral Tissues Open
Gene silencing therapy is an effective treatment for amyotrophic lateral sclerosis (ALS) patients carrying mutations in the superoxide dismutase‐1 ( SOD1 ) gene aiming to reduce noxious forms of SOD1 in the central nervous system (CNS). Th…
View article: Identification of a presymptomatic and early disease signature for Amyotrophic Lateral Sclerosis (ALS): protocol of the premodiALS study
Identification of a presymptomatic and early disease signature for Amyotrophic Lateral Sclerosis (ALS): protocol of the premodiALS study Open
The median time to diagnosis of amyotrophic lateral sclerosis (ALS) is approximately 12 months after the onset of first symptoms. This diagnostic delay is primarily due to the nonspecific nature of early symptoms and the clinical challenge…
View article: Somatic mutations in ALS genes in the motor cortex of sporadic ALS patients
Somatic mutations in ALS genes in the motor cortex of sporadic ALS patients Open
Amyotrophic lateral sclerosis (ALS) is characterized by the progressive degeneration of cortical and spinal motor neurons. Mendelian germline mutations often cause familial ALS (fALS) but only approximately ten percent of sporadic ALS case…
View article: A comparison of p‐tau assays for the specificity to detect tau changes in Alzheimer's disease
A comparison of p‐tau assays for the specificity to detect tau changes in Alzheimer's disease Open
INTRODUCTION We evaluated differences in p‐tau levels between Alzheimer's disease (AD), a condition with brain‐specific changes in p‐tau, and amyotrophic lateral sclerosis (ALS), a condition associated with increases in peripheral p‐tau le…
View article: Landscapes of missense variant impact for human superoxide dismutase 1
Landscapes of missense variant impact for human superoxide dismutase 1 Open
Amyotrophic lateral sclerosis (ALS) is a progressive motor neuron disease for which important subtypes are caused by variation in the Superoxide Dismutase 1 gene SOD1 . Diagnosis based on SOD1 sequencing can not only be definitive but also…
View article: Oligogenic structure of amyotrophic lateral sclerosis has genetic testing, counselling and therapeutic implications
Oligogenic structure of amyotrophic lateral sclerosis has genetic testing, counselling and therapeutic implications Open
Background Despite several studies suggesting a potential oligogenic risk model in amyotrophic lateral sclerosis (ALS), case–control statistical evidence implicating oligogenicity with disease risk or clinical outcomes is limited. Consider…
View article: Phenotypic Characterization of ALS‐Causing SOD1 Mutations Affecting Polypeptide Length
Phenotypic Characterization of ALS‐Causing SOD1 Mutations Affecting Polypeptide Length Open
Background: Some 234 mutations in the small SOD1 gene have been reported to cause amyotrophic lateral sclerosis. However, the pathogenic mechanisms, particularly of those mutations affecting polypeptide length, are contested. It is present…
View article: Upregulated miR-10b-5p as a potential miRNA signature in amyotrophic lateral sclerosis patients
Upregulated miR-10b-5p as a potential miRNA signature in amyotrophic lateral sclerosis patients Open
Amyotrophic lateral sclerosis (ALS) is a fatal, adult-onset disease marked by a progressive degeneration of motor neurons (MNs) present in the spinal cord, brain stem and motor cortex. Death in most patients usually occurs within 2–4 years…
View article: Specific analysis of SOD1 enzymatic activity in CSF from ALS patients with and without SOD1 mutations
Specific analysis of SOD1 enzymatic activity in CSF from ALS patients with and without SOD1 mutations Open
Mutations in superoxide dismutase-1 (SOD1) are a cause of hereditary amyotrophic lateral sclerosis (ALS) through a gain-of-function mechanism involving unfolded mutant SOD1. Intrathecal gene therapy using the antisense-oligo-nucleotide dru…
View article: Small striatal huntingtin inclusions in patients with motor neuron disease with reduced penetrance and intermediate HTT gene expansions
Small striatal huntingtin inclusions in patients with motor neuron disease with reduced penetrance and intermediate HTT gene expansions Open
Short tandem repeat expansions in the human genome are overrepresented in a variety of neurological disorders. It was recently shown that huntingtin (HTT) repeat expansions with full penetrance, i.e. 40 or more CAG repeats, which normally …
View article: SOD1 Enzymatic Activity in CSF from ALS patients with and without<i>SOD1</i>mutations
SOD1 Enzymatic Activity in CSF from ALS patients with and without<i>SOD1</i>mutations Open
Superoxide dismutase-1 (SOD1) mutations are a common cause of amyotrophic lateral sclerosis (ALS). Intrathecal gene therapy using the antisense-oligo-nucleotide drug tofersen to reduce SOD1 expression shows significant effects on disease p…
View article: DALSO: domain ALS ontology
DALSO: domain ALS ontology Open
Amyotrophic lateral sclerosis (ALS) is an incurable, rapidly progressive neurodegenerative disease. During the course of ALS, virtually all skeletal muscles are gradually affected, including the respiratory muscles, and the disease is usua…
View article: Mutations in the tail and rod domains of the neurofilament heavy‐chain gene increase the risk of <scp>ALS</scp>
Mutations in the tail and rod domains of the neurofilament heavy‐chain gene increase the risk of <span>ALS</span> Open
Objective Neurofilament heavy‐chain gene ( NEFH ) variants are associated with multiple neurodegenerative diseases, however, their relationship with ALS has not been robustly explored. Still, NEFH is commonly included in genetic screening …
View article: Computing linkage disequilibrium aware genome embeddings using autoencoders
Computing linkage disequilibrium aware genome embeddings using autoencoders Open
Motivation The completion of the genome has paved the way for genome-wide association studies (GWAS), which explained certain proportions of heritability. GWAS are not optimally suited to detect non-linear effects in disease risk, possibly…
View article: The oligogenic structure of amyotrophic lateral sclerosis has genetic testing, counselling, and therapeutic implications
The oligogenic structure of amyotrophic lateral sclerosis has genetic testing, counselling, and therapeutic implications Open
Recently, large-scale case-control analyses have been prioritized in the study of ALS. Yet the same effort has not been put forward to investigate additive moderate phenotypic effects of genetic variants in genes driving ALS risk, despite …
View article: European Academy of Neurology (<scp>EAN)</scp> guideline on the management of amyotrophic lateral sclerosis in collaboration with European Reference Network for Neuromuscular Diseases (<scp>ERN</scp><scp>EURO‐NMD)</scp>
European Academy of Neurology (<span>EAN)</span> guideline on the management of amyotrophic lateral sclerosis in collaboration with European Reference Network for Neuromuscular Diseases (<span>ERN</span><span>EURO‐NMD)</span> Open
Background This update of the guideline on the management of amyotrophic lateral sclerosis (ALS) was commissioned by the European Academy of Neurology (EAN) and prepared in collaboration with the European Reference Network for Neuromuscula…
View article: Validity and reliability measures of the Swedish Karolinska version of the Edinburgh Cognitive and Behavioral ALS Screen (SK-ECAS)
Validity and reliability measures of the Swedish Karolinska version of the Edinburgh Cognitive and Behavioral ALS Screen (SK-ECAS) Open
Cognitive and behavioral impairment is observed in up to 50% of patients with amyotrophic lateral sclerosis (ALS). The Edinburgh Cognitive and Behavioral ALS Screen (ECAS) is a 5-domain screening tool customized for quick cognitive screeni…
View article: Living with a parent with ALS - adolescents’ need for professional support from the adolescents’ and the parents’ perspectives
Living with a parent with ALS - adolescents’ need for professional support from the adolescents’ and the parents’ perspectives Open
Given the adolescents' need for information and understanding, healthcare professionals must actively work to reach the adolescents as early as possible. It is crucial to ensure that the adolescents are given the opportunity to be involved…
View article: Genetic and phenotype analyses of primary lateral sclerosis datasets from international cohorts
Genetic and phenotype analyses of primary lateral sclerosis datasets from international cohorts Open
Primary lateral sclerosis (PLS) is the rarest form of motor neurone disease (MND). It is characterized by upper motor neuron degeneration, leading to progressive weakness, spasticity and functional disability. Although PLS does not typical…