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PSEN1 p.Met233Val in a Complex Neurodegenerative Movement and Neuropsychiatric Disorder- Silke Appel-Cresswell, Ilaria Guella, Anna Lehman, Dean Foti, Matthew J. Farrer
- J Mov Disord. 2018;11(1):45-48. Published online January 11, 2018
- DOI: https://doi.org/10.14802/jmd.17066
- 8,456 View
- 180 Download
- 12 Web of Science
- 12 Crossref
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Abstract
PDF - Mutations in presenilin 1 (PSEN1) are the most common cause of autosomal dominant Alzheimer’s disease. Here, we report a Canadian-Vietnamese family carrying a PSEN1 p.Met233Val mutation with an exceptionally early and severe presentation that includes a wide range of atypical symptoms, including prominent ataxia, Parkinsonism, spasticity, dystonia, action tremor, myoclonus, bulbar symptoms, seizures, hallucinations and behavioral changes. Whole-exome sequencing (WES) was performed on the affected proband after many assessments over several years proved diagnostically inconclusive. The results were analyzed using the AnnEx “Annotated Exomes” browser (http://annex.can.ubc.ca), a web-based platform that facilitates WES variant annotation and interpretation. High-throughput sequencing can be especially informative for complex neurological disorders, and WES warrants consideration as a first-line clinical test. Data analyses facilitated by web-based bioinformatics tools have great potential for novel insight, although confirmatory, diagnostically accredited Sanger sequencing is recommended prior to reporting.
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Citations
Citations to this article as recorded by
- Presenilin Gene Mutation-associated Psychosis
Mark A. Colijn, Zahinoor Ismail
Alzheimer Disease & Associated Disorders.2024; 38(1): 101. CrossRef - A heterozygous de novo PSEN1 mutation in a patient with early-onset parkinsonism
Yueting Chen, Peng Liu, Fei Xie, Bo Wang, Zhiru Lin, Wei Luo
Neurological Sciences.2022; 43(2): 1405. CrossRef - Nomenclature of Genetic Movement Disorders: Recommendations of the International Parkinson and Movement Disorder Society Task Force – An Update
Lara M. Lange, Paulina Gonzalez‐Latapi, Rajasumi Rajalingam, Marina A.J. Tijssen, Darius Ebrahimi‐Fakhari, Carolin Gabbert, Christos Ganos, Rhia Ghosh, Kishore R. Kumar, Anthony E. Lang, Malco Rossi, Sterre van der Veen, Bart van de Warrenburg, Tom Warner
Movement Disorders.2022; 37(5): 905. CrossRef - Progressive cognitive impairment and familial spastic paraparesis due to PRESENILIN 1 mutation: anatomoclinical characterization
Miren Altuna, Rosa Larumbe, María Victoria Zelaya, Sira Moreno, Virginia García-Solaesa, Maite Mendioroz, María Antonia Ramos, María Elena Erro
Journal of Neurology.2022; 269(9): 4853. CrossRef - Genetics, Functions, and Clinical Impact of Presenilin-1 (PSEN1) Gene
Jaya Bagaria, Eva Bagyinszky, Seong Soo A. An
International Journal of Molecular Sciences.2022; 23(18): 10970. CrossRef - Scoring Algorithm‐Based Genomic Testing in Dystonia: A Prospective Validation Study
Michael Zech, Robert Jech, Sylvia Boesch, Matej Škorvánek, Ján Necpál, Jana Švantnerová, Matias Wagner, Ariane Sadr‐Nabavi, Felix Distelmaier, Martin Krenn, Tereza Serranová, Irena Rektorová, Petra Havránková, Alexandra Mosejová, Iva Příhodová, Jana Šarlá
Movement Disorders.2021; 36(8): 1959. CrossRef - PET/MRI Delivers Multimodal Brain Signature in Alzheimer’s Disease with De Novo PSEN1 Mutation
Gayane Aghakhanyan, Dorothee Saur, Michael Rullmann, Christopher M. Weise, Matthias L. Schroeter, Ken Marek, Rami Abou Jamra, Solveig Tiepolt, Maria Strauss, Cordula Scherlach, Karl-Titus Hoffmann, Osama Sabri, Joseph Classen, Henryk Barthel
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Yury Seliverstov, Ilya Kanivets, Sergey Illarioshkin
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Gal Barel, Ralf Herwig
Nucleic Acids Research.2020; 48(17): e98. CrossRef - Diagnostic Approach of Early-Onset Dementia with Negative Family History: Implications from Two Cases of Early-Onset Alzheimer’s Disease with De Novo PSEN1 Mutation
Jia Liu, Qianqian Wang, Donglai Jing, Ran Gao, Jing Zhang, Chunlei Cui, Hongwen Qiao, Zhigang Liang, Chaodong Wang, Pedro Rosa-Neto, Liyong Wu, Jianping Jia, Serge Gauthier
Journal of Alzheimer's Disease.2019; 68(2): 551. CrossRef - A Clinical Case of Patient Carrying Rare Pathological PSEN1 Gene Mutation (L424V) Demonstrates the Phenotypic Heterogenity of Early Onset Familial AD
Kaloyan R. Stoychev, Maya Stoimenova-Popova, Petranka Chumpalova, Lilia Ilieva, Mohamed Swamad, Zornitsa Kamburova-Martinova
Frontiers in Psychiatry.2019;[Epub] CrossRef - Deficiency in the transcription factor NRF2 worsens inflammatory parameters in a mouse model with combined tauopathy and amyloidopathy
Ana I. Rojo, Marta Pajares, Angel J. García-Yagüe, Izaskun Buendia, Fred Van Leuven, Masayuki Yamamoto, Manuela G. López, Antonio Cuadrado
Redox Biology.2018; 18: 173. CrossRef
- Presenilin Gene Mutation-associated Psychosis
Original Article
- Analysis of the Substantia Innominata Volume in Patients with Parkinson’s Disease with Dementia, Dementia with Lewy Bodies, and Alzheimer’s Disease
- Hee Jin Kim, Ji Eun Lee, Soo Jeong Shin, Young Ho Sohn, Phil Hyu Lee
- J Mov Disord. 2011;4(2):68-72.
- DOI: https://doi.org/10.14802/jmd.11014
- 14,316 View
- 82 Download
- 13 Crossref
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Abstract
PDF
Background and Purpose The substantia innominata (SI) contains the nucleus basalis of Meynert, which is the major source of cholinergic input to the cerebral cortex. We hypothesized that degeneration of the SI and its relationship to general cognitive performance differs in amyloidopathy and synucleinopathy.
Methods We used magnetic resonance imaging (MRI)-based volumetric analysis to evaluate the SI volume in patients with amnestic mild cognitive impairment (aMCI), Alzheimer’s disease (AD), Parkinson’s disease-mild cognitive impairment (PD-MCI), PD with dementia (PDD), dementia with Lewy bodies (DLB), and healthy elderly controls. The correlation between SI volume and general cognitive performance, measured using the Korean version of the Mini-Mental State Examination (K-MMSE), was examined.
Results Compared to control subjects, the mean normalized SI volume was significantly decreased in all of the other groups. The normalized SI volume did not differ between the subjects with PDD and DLB, whereas it was significantly smaller in subjects with PDD (
p = 0.029) and DLB (p = 0.011) compared with AD. In subjects with PD-related cognitive impairment (PD-MCI, PDD, or DLB), there was a significant positive correlation between the SI volume and K-MMSE score (r = 0.366,p < 0.001), whereas no correlation was seen in subjects with AD-related cognitive impairment (aMCI or AD).Conclusions Our data suggest that the SI loss is greater in synucleinopathy-related dementia (PDD or DLB) than in AD and that the contribution of the SI to cognitive performance is greater in synucleinopathy than in amyloidopathy.
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Citations
Citations to this article as recorded by- Long‐term effects of cholinesterase inhibitors and memantine on cognitive decline, cardiovascular events, and mortality in dementia with Lewy bodies: An up to 10‐year follow‐up study
Hong Xu, Annegret Habich, Daniel Ferreira, Londos Elisabet, Eric Westman, Maria Eriksdotter
Alzheimer's & Dementia.2024;[Epub] CrossRef - Deep Learning Segmentation of the Nucleus Basalis of Meynert on 3T MRI
D.J. Doss, G.W. Johnson, S. Narasimhan, J.S. Shless, J.W. Jiang, H.F.J. González, D.L. Paulo, A. Lucas, K.A. Davis, C. Chang, V.L. Morgan, C. Constantinidis, B.M. Dawant, D.J. Englot
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Julia Schumacher, Nicola J Ray, Calum A Hamilton, Paul C Donaghy, Michael Firbank, Gemma Roberts, Louise Allan, Rory Durcan, Nicola Barnett, John T O’Brien, John-Paul Taylor, Alan J Thomas
Brain.2022; 145(5): 1773. CrossRef - Metric magnetic resonance imaging analysis reveals pronounced substantia-innominata atrophy in dementia with Lewy bodies with a psychiatric onset
Niels Hansen, Sebastian Johannes Müller, Eya Khadhraoui, Christian Heiner Riedel, Philip Langer, Jens Wiltfang, Charles-Arnold Timäus, Caroline Bouter, Marielle Ernst, Claudia Lange
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Julia Schumacher, John-Paul Taylor, Calum A. Hamilton, Michael Firbank, Ruth A. Cromarty, Paul C. Donaghy, Gemma Roberts, Louise Allan, Jim Lloyd, Rory Durcan, Nicola Barnett, John T. O'Brien, Alan J. Thomas
NeuroImage: Clinical.2021; 30: 102604. CrossRef - EEG alpha reactivity and cholinergic system integrity in Lewy body dementia and Alzheimer’s disease
Julia Schumacher, Alan J. Thomas, Luis R. Peraza, Michael Firbank, Ruth Cromarty, Calum A. Hamilton, Paul C. Donaghy, John T. O’Brien, John-Paul Taylor
Alzheimer's Research & Therapy.2020;[Epub] CrossRef - Transcriptional network analysis in frontal cortex in Lewy body diseases with focus on dementia with Lewy bodies
Gabriel Santpere, Paula Garcia‐Esparcia, Pol Andres‐Benito, Belen Lorente‐Galdos, Arcadi Navarro, Isidro Ferrer
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Deepak Kumbhare, Viktoras Palys, Jamie Toms, Chathurika S. Wickramasinghe, Kasun Amarasinghe, Milos Manic, Evan Hughes, Kathryn L. Holloway
Frontiers in Neuroscience.2018;[Epub] CrossRef - Dementia with Lewy Bodies: Molecular Pathology in the Frontal Cortex in Typical and Rapidly Progressive Forms
Paula Garcia-Esparcia, Irene López-González, Oriol Grau-Rivera, María Francisca García-Garrido, Anusha Konetti, Franc Llorens, Saima Zafar, Margarita Carmona, José Antonio del Rio, Inga Zerr, Ellen Gelpi, Isidro Ferrer
Frontiers in Neurology.2017;[Epub] CrossRef - Meynert’s Nucleus Complex White Matter Abnormalities in Autism Spectrum Disorders: An MRI Study
Matteo Pardini, Francesco G. Garaci, Laszlo Zaborszky, Filadelfo Coniglione, Gianluca Serafini, Martina Siracusano, Francesca Benassi, Leonardo Emberti Gialloreti
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