keyword
https://read.qxmd.com/read/38495305/enlarged-perivascular-spaces-are-associated-with-white-matter-injury-cognition-and-inflammation-in-cerebral-autosomal-dominant-arteriopathy-with-subcortical-infarcts-and-leukoencephalopathy
#1
JOURNAL ARTICLE
Nikolaos Karvelas, Bradley Oh, Earnest Wang, Yann Cobigo, Torie Tsuei, Stephen Fitzsimons, Kyan Younes, Alexander Ehrenberg, Michael D Geschwind, Daniel Schwartz, Joel H Kramer, Adam R Ferguson, Bruce L Miller, Lisa C Silbert, Howard J Rosen, Fanny M Elahi
Enlarged perivascular spaces have been previously reported in cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy, but their significance and pathophysiology remains unclear. We investigated associations of white matter enlarged perivascular spaces with classical imaging measures, cognitive measures and plasma proteins to better understand what enlarged perivascular spaces represent in cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy and whether radiographic measures of enlarged perivascular spaces would be of value in future therapeutic discovery studies for cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy...
2024: Brain communications
https://read.qxmd.com/read/38454193/bdnf-val66met-moderates-episodic-memory-decline-and-tau-biomarker-increases-in-early-sporadic-alzheimer-s-disease
#2
JOURNAL ARTICLE
Diny Thomson, Emily Rosenich, Paul Maruff, Yen Ying Lim
OBJECTIVE: Allelic variation in the brain-derived neurotrophic factor (BDNF) Val66Met polymorphism has been shown to moderate rates of cognitive decline in preclinical sporadic Alzheimer's disease (AD; i.e., Aβ + older adults), and pre-symptomatic autosomal dominant Alzheimer's disease (ADAD). In ADAD, Met66 was also associated with greater increases in CSF levels of total-tau (t-tau) and phosphorylated tau (p-tau181). This study sought to determine the extent to which BDNF Val66Met is associated with changes in episodic memory and CSF t-tau and p-tau181 in Aβ + older adults in early-stage sporadic AD...
March 7, 2024: Archives of Clinical Neuropsychology: the Official Journal of the National Academy of Neuropsychologists
https://read.qxmd.com/read/38436192/peculiar-cadasil-phenotype-in-monozygotic-twins-carrying-a-novel-notch3-pathogenetic-variant
#3
JOURNAL ARTICLE
A Pascarella, L Manzo, O Marsico, S Gasparini, E Falcone, S Cammaroto, U Sabatini, U Aguglia, E Ferlazzo
BACKGROUND: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is an autosomal dominantly inherited cerebral small vessel disease caused by Neurogenic locus notch homolog protein 3 (NOTCH3) gene mutations. The main clinical features include migraine with aura, recurrent ischemic strokes and dementia. Brain MRI typically shows multiple small lacunar infarcts and severe, diffuse, symmetrical white matter hyperintensities (WMHs), with characteristic involvement of the anterior temporal pole, external capsule, and superior frontal gyrus...
February 2024: European Review for Medical and Pharmacological Sciences
https://read.qxmd.com/read/38435179/cerebral-autosomal-dominant-arteriopathy-with-subcortical-infarcts-and-leukoencephalopathy-cadasil-syndrome-a-case-report-and-review-of-literature
#4
Cesar Gutierrez Gomez, Martin Daniel Alejandro Lopez Gonzalez, Adolfo Natanael Vazquez Tobias, José Guadalupe Rivera Chávez
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is an autosomal dominant genetic disorder of the small arteries that causes ischemic vascular events, subcortical dementia, behavioral changes, and migraine-like headaches. It is caused by a mutation in the NOTCH3 gene; this disease was first described in 1955 by van Bogaert. We present a 29-year-old woman who presented to the neurology department. She has no history of chronic degenerative diseases. She has been complaining of migraine-like headaches for the past six months...
February 2024: Curēus
https://read.qxmd.com/read/38400532/examining-amyloid-reduction-as-a-surrogate-endpoint-through-latent-class-analysis-using-clinical-trial-data-for-dominantly-inherited-alzheimer-s-disease
#5
JOURNAL ARTICLE
Guoqiao Wang, Yan Li, Chengjie Xiong, Tammie L S Benzinger, Brian A Gordon, Jason Hassenstab, Andrew J Aschenbrenner, Eric McDade, David B Clifford, Jorge J Libre-Guerra, Xinyu Shi, Catherine J Mummery, Christopher H van Dyck, James J Lah, Lawrence S Honig, Gregg Day, John M Ringman, William S Brooks, Nick C Fox, Kazushi Suzuki, Johannes Levin, Mathias Jucker, Paul Delmar, Tobias Bittner, Randall J Bateman
INTRODUCTION: Increasing evidence suggests that amyloid reduction could serve as a plausible surrogate endpoint for clinical and cognitive efficacy. The double-blind phase 3 DIAN-TU-001 trial tested clinical and cognitive declines with increasing doses of solanezumab or gantenerumab. METHODS: We used latent class (LC) analysis on data from the Dominantly Inherited Alzheimer Network Trials Unit 001 trial to test amyloid positron emission tomography (PET) reduction as a potential surrogate biomarker...
February 23, 2024: Alzheimer's & Dementia: the Journal of the Alzheimer's Association
https://read.qxmd.com/read/38392208/modulating-golgi-stress-signaling-ameliorates-cell-morphological-phenotypes-induced-by-chmp2b-with-frontotemporal-dementia-associated-p-asp148tyr
#6
JOURNAL ARTICLE
Shoya Fukatsu, Maho Okawa, Miyu Okabe, Mizuka Cho, Mikinori Isogai, Takanori Yokoi, Remina Shirai, Hiroaki Oizumi, Masahiro Yamamoto, Katsuya Ohbuchi, Yuki Miyamoto, Junji Yamauchi
Some charged multivesicular body protein 2B (CHMP2B) mutations are associated with autosomal-dominant neurodegenerative frontotemporal dementia and/or amyotrophic lateral sclerosis type 7 (FTDALS7). The main aim of this study is to clarify the relationship between the expression of mutated CHMP2B protein displaying FTD symptoms and defective neuronal differentiation. First, we illustrate that the expression of CHMP2B with the Asp148Tyr (D148Y) mutation, which preferentially displays FTD phenotypes, blunts neurite process elongation in rat primary cortical neurons...
February 5, 2024: Current Issues in Molecular Biology
https://read.qxmd.com/read/38390945/rab11a-controls-cell-shape-via-c9orf72-protein-possible-relationships-to-frontotemporal-dementia-amyotrophic-lateral-sclerosis-ftdals-type-1
#7
JOURNAL ARTICLE
Shoya Fukatsu, Hinami Sashi, Remina Shirai, Norio Takagi, Hiroaki Oizumi, Masahiro Yamamoto, Katsuya Ohbuchi, Yuki Miyamoto, Junji Yamauchi
Abnormal nucleotide insertions of C9orf72, which forms a complex with Smith-Magenis syndrome chromosomal region candidate gene 8 (SMCR8) protein and WD repeat-containing protein 41 (WDR41) protein, are associated with an autosomal-dominant neurodegenerative frontotemporal dementia and/or amyotrophic lateral sclerosis type 1 (FTDALS1). The differentially expressed in normal and neoplastic cells (DENN) domain-containing C9orf72 and its complex with SMCR8 and WDR41 function as a guanine-nucleotide exchange factor for Rab GTP/GDP-binding proteins (Rab GEF, also called Rab activator)...
February 9, 2024: Pathophysiology: the Official Journal of the International Society for Pathophysiology
https://read.qxmd.com/read/38380882/presenilin-1-mutation-position-influences-amyloidosis-small-vessel-disease-and-dementia-with-disease-stage
#8
JOURNAL ARTICLE
Nelly Joseph-Mathurin, Rebecca L Feldman, Ruijin Lu, Zahra Shirzadi, Carmen Toomer, Junie R Saint Clair, Yinjiao Ma, Nicole S McKay, Jeremy F Strain, Collin Kilgore, Karl A Friedrichsen, Charles D Chen, Brian A Gordon, Gengsheng Chen, Russ C Hornbeck, Parinaz Massoumzadeh, Austin A McCullough, Qing Wang, Yan Li, Guoqiao Wang, Sarah J Keefe, Stephanie A Schultz, Carlos Cruchaga, Gregory M Preboske, Clifford R Jack, Jorge J Llibre-Guerra, Ricardo F Allegri, Beau M Ances, Sarah B Berman, William S Brooks, David M Cash, Gregory S Day, Nick C Fox, Michael Fulham, Bernardino Ghetti, Keith A Johnson, Mathias Jucker, William E Klunk, Christian la Fougère, Johannes Levin, Yoshiki Niimi, Hwamee Oh, Richard J Perrin, Gerald Reischl, John M Ringman, Andrew J Saykin, Peter R Schofield, Yi Su, Charlene Supnet-Bell, Jonathan Vöglein, Igor Yakushev, Adam M Brickman, John C Morris, Eric McDade, Chengjie Xiong, Randall J Bateman, Jasmeer P Chhatwal, Tammie L S Benzinger
INTRODUCTION: Amyloidosis, including cerebral amyloid angiopathy, and markers of small vessel disease (SVD) vary across dominantly inherited Alzheimer's disease (DIAD) presenilin-1 (PSEN1) mutation carriers. We investigated how mutation position relative to codon 200 (pre-/postcodon 200) influences these pathologic features and dementia at different stages. METHODS: Individuals from families with known PSEN1 mutations (n = 393) underwent neuroimaging and clinical assessments...
February 21, 2024: Alzheimer's & Dementia: the Journal of the Alzheimer's Association
https://read.qxmd.com/read/38352559/transcriptional-programs-mediating-neuronal-toxicity-and-altered-glial-neuronal-signaling-in-a-drosophila-knock-in-tauopathy-model
#9
Hassan Bukhari, Vanitha Nithianandam, Rachel A Battaglia, Anthony Cicalo, Souvarish Sarkar, Aram Comjean, Yanhui Hu, Matthew J Leventhal, Xianjun Dong, Mel B Feany
Missense mutations in the gene encoding the microtubule-associated protein tau cause autosomal dominant forms of frontotemporal dementia. Multiple models of frontotemporal dementia based on transgenic expression of human tau in experimental model organisms, including Drosophila , have been described. These models replicate key features of the human disease, but do not faithfully recreate the genetic context of the human disorder. Here we use CRISPR-Cas mediated gene editing to model frontotemporal dementia caused by the tau P301L mutation by creating the orthologous mutation, P251L, in the endogenous Drosophila tau gene...
February 4, 2024: bioRxiv
https://read.qxmd.com/read/38338916/unveiling-familial-hypercholesterolemia-review-cardiovascular-complications-lipid-lowering-treatment-and-its-efficacy
#10
REVIEW
Piotr Fularski, Joanna Hajdys, Gabriela Majchrowicz, Magdalena Stabrawa, Ewelina Młynarska, Jacek Rysz, Beata Franczyk
Familial hypercholesterolemia (FH) is a genetic disorder primarily transmitted in an autosomal-dominant manner. We distinguish two main forms of FH, which differ in the severity of the disease, namely homozygous familial hypercholesterolemia (HoFH) and heterozygous familial hypercholesterolemia (HeFH). The characteristic feature of this disease is a high concentration of low-density lipoprotein cholesterol (LDL-C) in the blood. However, the level may significantly vary between the two mentioned types of FH, and it is decidedly higher in HoFH...
January 29, 2024: International Journal of Molecular Sciences
https://read.qxmd.com/read/38315424/lrp10-and-%C3%AE-synuclein-transmission-in-lewy-body-diseases
#11
JOURNAL ARTICLE
Ana Carreras Mascaro, Martyna M Grochowska, Valerie Boumeester, Natasja F J Dits, Ece Naz Bilgiҫ, Guido J Breedveld, Leonie Vergouw, Frank Jan de Jong, Martin E van Royen, Vincenzo Bonifati, Wim Mandemakers
Autosomal dominant variants in LRP10 have been identified in patients with Lewy body diseases (LBDs), including Parkinson's disease (PD), Parkinson's disease-dementia (PDD), and dementia with Lewy bodies (DLB). Nevertheless, there is little mechanistic insight into the role of LRP10 in disease pathogenesis. In the brains of control individuals, LRP10 is typically expressed in non-neuronal cells like astrocytes and neurovasculature, but in idiopathic and genetic cases of PD, PDD, and DLB, it is also present in α-synuclein-positive neuronal Lewy bodies...
February 5, 2024: Cellular and Molecular Life Sciences: CMLS
https://read.qxmd.com/read/38296507/fahr-s-disease-in-a-patient-with-recurrent-pneumonias-parkinsonism-and-dementia
#12
JOURNAL ARTICLE
Christopher Jude Pinto, Harshita Agrawal, Holly Schmidt, Layth Tumah
Fahr's disease is a rare condition characterised by the presence of idiopathic familial bilateral basal ganglia calcifications, transmitted in an autosomal-dominant fashion. Diagnosis is based on clinical features of neuropsychiatric and somatic symptoms in conjunction with radiological findings. Our patient, a man in his early 50s, presented with pneumonia. History was significant for five admissions in the last 2 years for pneumonia and falls, with gradual cognitive and motor decline since his late 30s. Hypophonia, bradykinesia and dementia were noted on examination...
January 31, 2024: BMJ Case Reports
https://read.qxmd.com/read/38293034/modeling-and-correction-of-protein-conformational-disease-in-ipsc-derived-neurons-through-personalized-base-editing
#13
Colin T Konishi, Nancy Moulayes, Tanvi Butola, Vincent Zhang, Dana Kagan, Qiaoyan Yang, Mariel Pressler, Brooke G Dirvin, Orrin Devinsky, Jayeeta Basu, Chengzu Long
Altered protein conformation can cause incurable neurodegenerative disorders. Mutations in SERPINI1 , the gene encoding neuroserpin, alter protein conformation resulting in cytotoxic aggregation in neuronal endoplasmic reticulum. Aggregates cause oxidative stress impairing function, leading to neuronal death. Familial encephalopathy with neuroserpin inclusion bodies (FENIB) is a rare autosomal dominant progressive myoclonic epilepsy. Patients present with seizures and cognitive impairments that progress to dementia and premature death...
January 18, 2024: bioRxiv
https://read.qxmd.com/read/38281098/assessment-of-mendelian-and-risk-factor-genes-in-alzheimer-disease-a-prospective-nationwide-clinical-utility-study-and-recommendations-for-genetic-screening
#14
JOURNAL ARTICLE
Gaël Nicolas, Aline Zaréa, Morgane Lacour, Olivier Quenez, Stéphane Rousseau, Anne-Claire Richard, Antoine Bonnevalle, Catherine Schramm, Robert Olaso, Florian Sandron, Anne Boland, Jean-François Deleuze, Daniela Andriuta, Pierre Anthony, Sophie Auriacombe, Anna-Chloé Balageas, Guillaume Ballan, Mélanie Barbay, Yannick Bejot, Serge Belliard, Marie Benaiteau, Karim Bennys, Stéphanie Bombois, Claire Boutoleau-Bretonniere, Pierre Branger, Jasmine Carlier, Leslie Cartz-Piver, Pascaline Cassagnaud, Mathieu-Pierre Ceccaldi, Valérie Chauvire, Yaohua Chen, Julien Cogez, Emmanuel Cognat, Fabienne Contegal-Callier, Lea Corneille, Philippe Couratier, Benjamin Cretin, Charlotte Crinquette, Benjamin Dauriat, Sophie Dautricourt, Vincent de la Sayette, Astrid de Liège, Didier Deffond, Florence Demurger, Vincent Deramecourt, Céline Derollez, Elsa Dionet, Martine Doco Fenzy, Julien Dumurgier, Anais Dutray, Frédérique Etcharry-Bouyx, Maïté Formaglio, Audrey Gabelle, Anne Gainche-Salmon, Olivier Godefroy, Mathilde Graber, Chloé Gregoire, Stephan Grimaldi, Julien Gueniat, Claude Gueriot, Virginie Guillet-Pichon, Sophie Haffen, Cezara-Roxana Hanta, Clemence Hardy, Geoffroy Hautecloque, Camille Heitz, Claire Hourregue, Thérèse Jonveaux, Snejana Jurici, Lejla Koric, Pierre Krolak-Salmon, Julien Lagarde, Hélène-Marie Lanoiselée, Brice Laurens, Isabelle Le Ber, Gwenaël Le Guyader, Amélie Leblanc, Thibaud Lebouvier, Richard Levy, Anaïs Lippi, Marie-Anne Mackowiak, Eloi Magnin, Cecilia Marelli, Olivier Martinaud, Aurelien Maureille, Raffaella Migliaccio, Emilie Milongo-Rigal, Sophie Mohr, Helene Mollion, Alexandre Morin, Julia Nivelle, Camille Noiray, Pauline Olivieri, Claire Paquet, Jérémie Pariente, Florence Pasquier, Alexandre Perron, Nathalie Philippi, Vincent Planche, Hélène Pouclet-Courtemanche, Marie Rafiq, Adeline Rollin-Sillaire, Carole Roué-Jagot, Dario Saracino, Marie Sarazin, Mathilde Sauvée, François Sellal, Marc Teichmann, Christel Thauvin, Quentin Thomas, Camille Tisserand, Cédric Turpinat, Laurène Van Damme, Olivier Vercruysse, Nicolas Villain, Nathalie Wagemann, Camille Charbonnier, David Wallon
PURPOSE: To assess the likely pathogenic/pathogenic (LP/P) variants rates in Mendelian dementia genes and the moderate-to-strong risk factors rates in patients with Alzheimer disease (AD). METHODS: We included 700 patients in a prospective study and performed exome sequencing. A panel of 28 Mendelian and 6 risk-factor genes was interpreted and returned to patients. We built a framework for risk variant interpretation and risk gradation and assessed the detection rates among early-onset AD (EOAD, age of onset (AOO) ≤65 years, n=608) depending on AOO and pedigree structure and late-onset AD (LOAD, 66<AOO<75, n=92)...
January 24, 2024: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://read.qxmd.com/read/38265518/mild-cognitive-impairment-in-huntington-s-disease-challenges-and-outlooks
#15
REVIEW
Kurt A Jellinger
Although Huntington's disease (HD) has classically been viewed as an autosomal-dominant inherited neurodegenerative motor disorder, cognitive and/or behavioral changes are predominant and often an early manifestation of disease. About 40% of individuals in the presymptomatic period of HD meet the criteria for mild cognitive impairment, later progressing to dementia. The heterogenous spectrum of cognitive decline is characterized by deficits across multiple domains, particularly executive dysfunctions, but the underlying pathogenic mechanisms are still poorly understood...
January 24, 2024: Journal of Neural Transmission
https://read.qxmd.com/read/38242117/the-shared-ancestry-between-the-c9orf72-hexanucleotide-repeat-expansion-and-intermediate-length-alleles-using-haplotype-sharing-trees-and-haptk
#16
JOURNAL ARTICLE
Osma S Rautila, Karri Kaivola, Harri Rautila, Laura Hokkanen, Jyrki Launes, Timo E Strandberg, Hannu Laaksovirta, Johanna Palmio, Pentti J Tienari
The C9orf72 hexanucleotide repeat expansion (HRE) is a common genetic cause of amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD). The inheritance is autosomal dominant, but a high proportion of subjects with the mutation are simplex cases. One possible explanation is de novo expansions of unstable intermediate-length alleles (IAs). Using haplotype sharing trees (HSTs) with the haplotype analysis tool kit (HAPTK), we derived majority-based ancestral haplotypes of HRE samples and discovered that IAs containing ≥18-20 repeats share large haplotypes in common with the HRE...
February 1, 2024: American Journal of Human Genetics
https://read.qxmd.com/read/38235365/improvement-of-an-external-predictive-model-based-on-new-information-using-a-synthetic-data-approach-application-to-cadasil
#17
JOURNAL ARTICLE
Henri Chhoa, Hugues Chabriat, Adelina Joanita Anato, Mamadou Bamba, Florent Zittoun, Sylvie Chevret, Lucie Biard
BACKGROUND AND OBJECTIVES: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is the most frequent hereditary cerebral small vessel disease. It is caused by mutations of the NOTCH3 gene. The disease evolves progressively over decades leading to stroke, disability, cognitive decline, and functional dependency. The course and clinical severity of CADASIL seem heterogeneous. Predictive models are thus needed to improve prognostic evaluation and inform future clinical trials...
October 2023: Neurology. Genetics
https://read.qxmd.com/read/38226945/a-case-report-of-fatal-familial-insomnia-with-cerebrospinal-fluid-leukocytosis-during-the-covid-19-epidemic-and-review-of-the-literature
#18
JOURNAL ARTICLE
Zheng Wang, Yueqi Huang, Shuqi Wang, Jiefang Chen, Gesang Meiduo, Man Jin, Xiaoying Zhang
Fatal familial insomnia (FFI) is a rare autosomal dominant genetic neurodegenerative disease. Generally, FFI patients will develop rapidly progressive dementia, sleep disturbance, autonomic dysfunction, and so on. Cerebrospinal fluid examination of FFI patients normally shows no obvious abnormalities. Here, we report a young male patient who was diagnosed with FFI during the COVID-19 epidemic. Clinical symptoms include psychobehavioral abnormality, cognitive decline, sleep disturbance, and autonomic dysfunction...
January 16, 2024: Prion
https://read.qxmd.com/read/38217707/prevalence-clinical-characteristics-and-risk-factors-of-intracerebral-haemorrhage-in-cadasil-a-case-series-and-systematic-review
#19
JOURNAL ARTICLE
Nontapat Sukhonpanich, Hugh S Markus
BACKGROUND: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is the most common monogenic form of stroke and is characterised by early onset stroke and dementia. Most strokes are lacunar ischaemic strokes, but intracerebral haemorrhage (ICH) has also been reported, although there are limited published data on its frequency and characteristics. METHODS: A retrospective review of a prospectively recruited CADASIL register from the British National Referral clinic was performed to identify acute ICH cases and their characteristics...
January 13, 2024: Journal of Neurology
https://read.qxmd.com/read/38180527/one-train-may-hide-another-two-cases-of-co-occurring-primary-familial-brain-calcification-and-alzheimer-s-disease
#20
JOURNAL ARTICLE
Andrea Timmi, Alexandre Morin, Olivier Guillin, Gaël Nicolas
Primary familial brain calcification (PFBC) is a rare disorder that can manifest with a wide spectrum of motor, cognitive, and psychiatric symptoms or even remain asymptomatic. Alzheimer disease (AD) is a common condition that typically starts as a progressive amnestic disorder and progresses to major cognitive impairment. Accurately attributing an etiology to cognitive impairment can sometimes be challenging, especially when multiple pathologies with potentially overlapping symptomatology contribute to the clinical phenotype...
January 5, 2024: Journal of Molecular Neuroscience: MN
keyword
keyword
162697
1
2
Fetch more papers »
Fetching more papers... Fetching...
Remove bar
Read by QxMD icon Read
×

Save your favorite articles in one place with a free QxMD account.

×

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"

We want to hear from doctors like you!

Take a second to answer a survey question.