Each study has a usefulness score out of 100 (rubric version 4.0). Tap a score to see what makes it up.
Highest usefulness score first. Studies without a score come last.
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ECT-induced neuroplasticity in the hippocampus and amygdala relates to improved clinical response and is pronounced in regions with prominent connections to ventromedial prefrontal cortex and other limbic structures.
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It has been well established that neuronal loss within the cholinergic nucleus basalis of Meynert (nbM) correlates with cognitive decline in dementing disorders such as Alzheimer's disease (AD).
Why it matters
This review of the literature reports a pattern of nerve cell loss within the nucleus basalis of Meynert in Alzheimer's disease brains and proposes that a different pattern may occur in Lewy body dementias. It is a review and a hypothesis, not a test of any treatment, cure or prevention.
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Microglia are phagocytic cells that survey the brain and perform neuroprotective functions in response to tissue damage, but their activating receptors are largely unknown.
Why it matters
This study identified a critical role for TREM2 in how microglia activate in response to demyelination in living mice. It is animal work about microglial function, not a treatment or prevention for Alzheimer's disease.
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However, LB pathology in LRRK2-related PD may be a marker for a broader parkinsonian symptom complex including cognitive impairment.
Why it matters
In 37 cases of LRRK2-related Parkinson disease, parkinsonian motor features occurred even without Lewy bodies, while cognitive impairment, anxiety, and orthostatic hypotension correlated with the presence of Lewy bodies. This clinicopathological correlation may help classify LRRK2-related Parkinson disease but does not report a treatment or cure.
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Sleep disturbances are frequent in AD.
Why it matters
This study examined relationships between cerebrospinal fluid Alzheimer's biomarkers and hypocretin-1 levels in patients with cognitive disorders and narcolepsy-cataplexy. It is an observational study of markers and sleep-related molecules, not a treatment, cure, or prevention for Alzheimer's disease.
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Reprogramming somatic cells to induced pluripotent stem cells (iPSCs) resets their identity back to an embryonic age and, thus, presents a significant hurdle for modeling late-onset disorders.
Why it matters
This cell-model study used progerin expression to induce aging-related features in human iPSC-derived cells, and induced aging in Parkinson's disease iPSC-derived dopamine neurons revealed disease phenotypes requiring both aging and genetic susceptibility, such as dendrite degeneration, progressive loss of tyrosine hydroxylase expression, and enlarged mitochondria or Lewy-body-precursor inclusions. The authors suggest progerin-induced aging can be used to reveal late-onset age-related disease features in iPSC-based models.
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Antemortem CSF samples were collected from 30 patients with FTLD in a single-center validation cohort, and CSF levels of 5 putative FTLD-TDP biomarkers as well as levels of total Tau (t-Tau) and Tau phosphorylated at threonine 181 (p-Tau181) were measured using independent assays.
Why it matters
This study validated whether a reduced ratio of cerebrospinal fluid phosphorylated tau181 to total tau can distinguish frontotemporal lobar degeneration with TDP-43 inclusions from that with tau inclusions. It is a diagnostic biomarker study and does not test any treatment, cure, or prevention.
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Expanded hexanucleotide repeats in the chromosome 9 open reading frame 72 (C9orf72) gene are the most common genetic cause of ALS and frontotemporal degeneration (FTD).
Why it matters
Antisense oligonucleotides reduced the GGGGCC RNA foci from the C9orf72 expansion in patient cells, while siRNAs did not, and lowering C9orf72 RNA throughout the mouse CNS was well tolerated. This is early laboratory and animal work, so it points to a possible approach for C9orf72 ALS and FTD but has not been shown to help patients.
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53/100
Amyotrophic lateral sclerosis (ALS) is a severe neurodegenerative condition characterized by loss of motor neurons in the brain and spinal cord.
Why it matters
Motor neurons made from ALS patients with the C9ORF72 repeat expansion accumulated RNA foci and fired less continuously, and antisense oligonucleotides reduced these foci. This is a cell model of ALS, not a treatment proven in patients.
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As neuroinflammation is an early event in the pathogenesis of Alzheimer' s disease, new selective antiinflammatory drugs could lead to promising preventive strategies.
Why it matters
In a 12-week placebo-controlled trial in 96 people with mild cognitive impairment, CHF5074, a drug designed to modulate microglia, was well tolerated at doses up to 600 mg/day. Higher doses were linked to lower levels of the inflammation markers sCD40L and TNF-α in cerebrospinal fluid, but thinking tests showed no significant differences between groups, apart from a positive trend in executive function in APOE4 carriers. As an early safety study, it supports further testing rather than showing a clinical benefit.
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Age and the apolipoprotein E ε4 allele are well-known risk factors for Alzheimer disease, but whether female sex is also a risk factor remains controversial.
Why it matters
Using linear mixed-effects models, this study estimated that women and apolipoprotein E epsilon4 carriers had higher rates of structural brain and clinical decline across the spectrum from preclinical to clinical Alzheimer's disease. It describes who may decline faster and does not test any treatment or prevention.
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Traumatic brain injury (TBI) has long been recognized to be a risk factor for dementia.
Why it matters
This review describes chronic traumatic encephalopathy after repetitive head injury, with features including brain atrophy and amyloid-β, tau and TDP-43 pathologies, and notes similar changes can follow a single moderate to severe TBI. It states that little consensus exists on diagnosing these post-TBI syndromes and that the mechanisms of neurodegeneration after TBI largely remain unknown, so no treatment, cure or prevention is established.
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Transactivating response region DNA binding protein (TDP-43) is the major protein component of ubiquitinated inclusions found in amyotrophic lateral sclerosis (ALS) and frontotemporal lobar degeneration (FTLD) with ubiquitinated inclusions.
Why it matters
In mice, two ALS-causing forms of the TDP-43 protein (Q331K and M337V), but not the normal human form, caused age-dependent, progressive motor neuron death even though TDP-43 did not clump, become insoluble, or leave the cell nucleus. The study also found that the Q331K mutant changed how cells splice some RNAs, boosting TDP-43's normal splicing activity for some targets and losing it for others. The authors conclude that this adult-onset motor neuron disease "does not require aggregation or loss of nuclear TDP-43", but this is animal research on ALS/FTLD and does not test any treatment or Alzheimer's disease.
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The rs75932628-T variant of the gene encoding the triggering receptor expressed on myeloid cells 2 (TREM2) has recently been identified as a rare risk factor for late-onset Alzheimer's disease (AD).
Why it matters
In 726 French patients whose Alzheimer's began at or before age 65 and 783 people without the disease, the rare TREM2 variant rs75932628-T (R47H), previously linked to late-onset Alzheimer's, was more common in patients (odds ratio 4.07, 95% CI 1.3–16.9); it was the only TREM2 exon 2 variant to reach significance. The wide range means the true effect could be small or large, and the sample was limited to people of French origin. This is a genetic association study: it does not show the variant causes the disease, give an individual's risk, or test any treatment.
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Low Aβ42 was the strongest predictor of clinical progression in patients with subjective complaints.
Why it matters
In 127 nondemented patients with subjective complaints, low CSF Aβ42 was the strongest predictor of progression to mild cognitive impairment or Alzheimer's disease, and combinations of biomarkers had a lower predictive value than Aβ42 alone. The authors say the results are in line with the hypothesis that the cascade of pathologic events starts with deposition of Aβ42.
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The acute and long-term consequences of traumatic brain injury (TBI) have received increased attention in recent years.
Why it matters
This review discusses how traumatic brain injury, particularly repeated concussions in athletes, may initiate a long-term neurodegenerative process called chronic traumatic encephalopathy. The neuropathology of this condition resembles Alzheimer's disease with respect to mismetabolism and aggregation of tau, beta-amyloid, and TDP-43.
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Glial fibrillary acidic protein (GFAP) is the main astrocytic intermediate filament (IF).
Why it matters
This mouse study describes GFAP isoform expression in wild-type and Alzheimer disease mouse models, including increased transcript levels of GFAP isoforms in plaque-associated reactive astrocytes. It is animal work on cell biology and reports no treatment, cure or prevention.
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The Alzheimer disease and frontotemporal dementia (AD&FTLD) and Parkinson disease (PD) Mutation Databases make available curated information of sequence variations in genes causing Mendelian forms of the most common neurodegenerative brain disease AD, frontotemporal lobar degeneration (FTLD), and PD.
Why it matters
This 2012 paper describes curated databases of gene mutations behind the inherited (Mendelian) forms of Alzheimer's disease, frontotemporal lobar degeneration and Parkinson's disease, built as a reference for clinical geneticists, neurologists and researchers. Pooling the entries, the authors found that 61.4% of mutations had been seen in only one family and just 5.7% in 10 or more, and that every gene except PARK2 and PINK1 was linked to more than one clinical diagnosis. They note these figures are biased by journals favouring novel mutations, and the paper concerns rare inherited forms, not individual risk or treatment.
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Electroconvulsive therapy (ECT) is an effective strategy in some treatment-resistant patients with schizophrenia.
Why it matters
In 30 patients with schizophrenia receiving electroconvulsive therapy, adding rivastigmine was linked to improved cognitive scores compared with placebo. This concerns memory side effects of ECT in schizophrenia, not the treatment or prevention of Alzheimer's disease itself.
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53/100
We performed hypothesis-free linkage analysis and exome sequencing in a family with two siblings who had neuronal ceroid lipofuscinosis (NCL).
Why it matters
This study found that two siblings with two copies of a progranulin gene mutation developed neuronal ceroid lipofuscinosis, while one copy of the same gene causes frontotemporal dementia. It shows that the same gene can cause very different diseases depending on how many mutated copies a person carries, which may matter for how treatments are designed.
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Aging is associated with reductions in hippocampal volume that are accelerated by Alzheimer's disease and vascular risk factors.
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Misfolded proteins accumulating in several neurodegenerative diseases (including Alzheimer, Parkinson, and Huntington diseases) can cause aggregation of their native counterparts through a mechanism similar to the infectious prion protein's induction of a pathogenic conformation onto its cellular isoform.
Why it matters
This review discusses evidence that misfolded proteins in several neurodegenerative diseases, including SOD1 and TDP-43 in ALS, can spread in a prion-like way within the nervous system. It is about ALS and related mechanisms, not a treatment, cure, or prevention for Alzheimer's disease.
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SVaD without abnormal amyloid imaging was more common than expected.
Why it matters
Among 45 patients diagnosed with subcortical vascular dementia, about 69% had no abnormal amyloid on PET imaging, suggesting their dementia was not accompanied by Alzheimer-type amyloid. The remaining patients with amyloid differed in age, memory test scores, and other MRI features, which may help tell these groups apart.
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53/100
Video abstract The most common inherited form of Frontotemporal Lobar Degeneration (FTLD) known stems from Progranulin (GRN) mutation and exhibits TDP-43 plus ubiquitin aggregates.
Why it matters
This work shows that Sortilin binds progranulin and delivers it to lysosomes, and that removing Sortilin in mice raised progranulin levels and normalized the 50% decrease seen in FTLD-TDP. It identifies a possible way to raise progranulin, but the findings are in cells and mice, not a treatment tested in patients.
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Epidemiological evidence suggests that the incidence of amyotrophic lateral sclerosis is increased in association with head injury.
Why it matters
In 12 cases of chronic traumatic encephalopathy, 10 had widespread TDP-43 proteinopathy, and three also developed a progressive motor neuron disease with TDP-43 inclusions in the spinal cord. This is pathological evidence linking repetitive head injury to TDP-43 disease and does not test a treatment.
From across this topic
10 of the 4,748 studies in this topic, picked by a fixed rule (a hash of each study's address), not by score or date; each page of this list shows a different 10. The same 10 appear here every time.
- Spatiotemporal transcriptomic profiling reveals upregulation of glycolysis pathway genes before overt tauopathy in the PS19 mouse model
- The genetics and neuropathology of amyotrophic lateral sclerosis
- NEIGHBORHOOD DISADVANTAGE AND THE ASSOCIATION OF PLASMA BIOMARKERS WITH COGNITION IN A COHORT OF DIVERSE ADULTS
- Cerebrospinal fluid Aβ42, phosphorylated Tau181, and resting-state functional connectivity
- TREM2 dependent and independent functions of microglia in Alzheimer's disease
- Low-density lipoprotein receptor represents an apolipoprotein E-independent pathway of Aβ uptake and degradation by astrocytes
- Choroid plexus free‐water correlates with glymphatic function in Alzheimer's disease
- Increased hippocampal glutamate and volumetric deficits in unmedicated patients with schizophrenia
- Deafferentation of the septo-hippocampal pathway in rats as a model of the metabolic events in Alzheimer's disease
- Neuropathology and molecular diagnosis of Synucleinopathies