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The following terms were not found in PubMed: encephalopathy-hearing, loss-pons, hypoplasia-brain
Page 1
Atypical Alzheimer Disease Variants.
Polsinelli AJ, Apostolova LG. Polsinelli AJ, et al. Continuum (Minneap Minn). 2022 Jun 1;28(3):676-701. doi: 10.1212/CON.0000000000001082. Continuum (Minneap Minn). 2022. PMID: 35678398 Free PMC article. Review.
PURPOSE OF REVIEW: This article discusses the clinical, neuroimaging, and biomarker profiles of sporadic atypical Alzheimer disease (AD) variants, including early-onset AD, posterior cortical atrophy, logopenic variant primary progressive aphasi …
PURPOSE OF REVIEW: This article discusses the clinical, neuroimaging, and biomarker profiles of sporadic atypical Alzheimer disease ( …
Alzheimer's Disease Including Focal Presentations.
Villain N, Dubois B. Villain N, et al. Semin Neurol. 2019 Apr;39(2):213-226. doi: 10.1055/s-0039-1681041. Epub 2019 Mar 29. Semin Neurol. 2019. PMID: 30925614 Free article. Review.
Rare autosomal dominant mutations also account for a small fraction of early-onset AD. The main clinical phenotype at presentation is the amnestic phenotype targeting episodic memory. This is followed by rarer phenotypes such as posterior cortical atrophy, lo …
Rare autosomal dominant mutations also account for a small fraction of early-onset AD. The main clinical phenotype at presenta …
Neuroimaging in aging and neurologic diseases.
Risacher SL, Saykin AJ. Risacher SL, et al. Handb Clin Neurol. 2019;167:191-227. doi: 10.1016/B978-0-12-804766-8.00012-1. Handb Clin Neurol. 2019. PMID: 31753134 Free PMC article. Review.
The spectrum covers neuroimaging measures from normal aging to a variety of dementias: late-onset Alzheimer's disease [AD; including mild cognitive impairment (MCI)], familial and nonfamilial early-onset AD, atypical AD syndromes, posterior cortical …
The spectrum covers neuroimaging measures from normal aging to a variety of dementias: late-onset Alzheimer's disease [AD; including …
Nonprogressive congenital ataxias.
Bertini E, Zanni G, Boltshauser E. Bertini E, et al. Handb Clin Neurol. 2018;155:91-103. doi: 10.1016/B978-0-444-64189-2.00006-8. Handb Clin Neurol. 2018. PMID: 29891079 Review.
The terminology of nonprogressive congenital ataxia (NPCA) refers to a clinically and genetically heterogeneous group of disorders characterized by congenital or early-onset ataxia, but no progression or even improvement on follow-up. ...Some patients had …
The terminology of nonprogressive congenital ataxia (NPCA) refers to a clinically and genetically heterogeneous group of disorders character …
Frontotemporal dementia.
Perry DC, Miller BL. Perry DC, et al. Semin Neurol. 2013 Sep;33(4):336-41. doi: 10.1055/s-0033-1359316. Epub 2013 Nov 14. Semin Neurol. 2013. PMID: 24234354 Review.
Frontotemporal dementia (FTD) encompasses several clinical syndromes that involve a progressive change in behavior and/or language; it is more common than Alzheimer's disease in early-onset dementia under the age of 60 years. In the behavioral v …
Frontotemporal dementia (FTD) encompasses several clinical syndromes that involve a progressive change in behavior and/or lang …
Posterior cortical atrophy: clinical, neuroimaging, and neuropathological features.
Best J, Chapleau M, Rabinovici GD. Best J, et al. Expert Rev Neurother. 2023 Mar;23(3):227-236. doi: 10.1080/14737175.2023.2190885. Epub 2023 Mar 15. Expert Rev Neurother. 2023. PMID: 36920752 Review.
INTRODUCTION: Posterior Cortical Atrophy (PCA) is a neurodegenerative disorder characterized by impairment of higher-order visual processing in the setting of progressive atrophy of the parietal and occipital lobes. ...Structural neuroimaging demonstrates par …
INTRODUCTION: Posterior Cortical Atrophy (PCA) is a neurodegenerative disorder characterized by impairment of higher-order visual pro …
Wolfram Syndrome 1: A Pediatrician's and Pediatric Endocrinologist's Perspective.
Serbis A, Rallis D, Giapros V, Galli-Tsinopoulou A, Siomou E. Serbis A, et al. Int J Mol Sci. 2023 Feb 12;24(4):3690. doi: 10.3390/ijms24043690. Int J Mol Sci. 2023. PMID: 36835101 Free PMC article. Review.
Wolfram syndrome 1 (WS1) is a rare autosomal recessive neurodegenerative disease caused by mutations in WFS1 and WFS2 genes that produce wolframin, a protein involved in endoplasmic reticulum calcium homeostasis and cellular apoptosis. Its main clinical features are …
Wolfram syndrome 1 (WS1) is a rare autosomal recessive neurodegenerative disease caused by mutations in WFS1 and WFS2 genes th …
Rare CACNA1A mutations leading to congenital ataxia.
Izquierdo-Serra M, Fernández-Fernández JM, Serrano M. Izquierdo-Serra M, et al. Pflugers Arch. 2020 Jul;472(7):791-809. doi: 10.1007/s00424-020-02396-z. Epub 2020 May 26. Pflugers Arch. 2020. PMID: 32458086 Review.
Human mutations in the CACNA1A gene that encodes the pore-forming alpha(1A) subunit of the voltage-gated Ca(V)2.1 (P/Q-type) Ca(2+) channel cause multiple neurological disorders including sporadic and familial hemiplegic migraine, as well as cerebellar pathologies such as episodi …
Human mutations in the CACNA1A gene that encodes the pore-forming alpha(1A) subunit of the voltage-gated Ca(V)2.1 (P/Q-type) Ca(2+) channel …
SPTAN1 encephalopathy: distinct phenotypes and genotypes.
Tohyama J, Nakashima M, Nabatame S, Gaik-Siew C, Miyata R, Rener-Primec Z, Kato M, Matsumoto N, Saitsu H. Tohyama J, et al. J Hum Genet. 2015 Apr;60(4):167-73. doi: 10.1038/jhg.2015.5. Epub 2015 Jan 29. J Hum Genet. 2015. PMID: 25631096 Review.
Mutations in numerous genes for early-onset epileptic encephalopathies have been rapidly identified, including in SPTAN1, which encodes alpha-II spectrin. ...From these data we suggest that SPTAN1 encephalopathy is a distinct clinical syndrome owing to specif …
Mutations in numerous genes for early-onset epileptic encephalopathies have been rapidly identified, including in SPTAN1, whic …
Breakdown of specific functional brain networks in clinical variants of Alzheimer's disease.
Pini L, Wennberg AM, Salvalaggio A, Vallesi A, Pievani M, Corbetta M. Pini L, et al. Ageing Res Rev. 2021 Dec;72:101482. doi: 10.1016/j.arr.2021.101482. Epub 2021 Oct 2. Ageing Res Rev. 2021. PMID: 34606986 Review.
In this review, we summarize the evidence linking different large-scale functional network abnormalities to distinct AD phenotypes. Specifically, executive deficits in early-onset AD link with the dysfunction of networks that support sustained attention and executiv …
In this review, we summarize the evidence linking different large-scale functional network abnormalities to distinct AD phenotypes. Specific …
32 results