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JMD : Journal of Movement Disorders



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Case Report
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
  • 7,554 View
  • 178 Download
  • 11 Web of Science
  • 12 Crossref
AbstractAbstract 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 (, 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.


Citations to this article as recorded by  
  • Presenilin Gene Mutation-associated Psychosis
    Mark A. Colijn, Zahinoor Ismail
    Alzheimer Disease & Associated Disorders.2024;[Epub]     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
    Current Alzheimer Research.2021; 18(2): 178.     CrossRef
  • Spinocerebellar Ataxia-Like Presentation of the M233V PSEN1 Mutation
    Yury Seliverstov, Ilya Kanivets, Sergey Illarioshkin
    The Cerebellum.2020; 19(5): 744.     CrossRef
  • NetCore: a network propagation approach using node coreness
    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
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.
  • 13,371 View
  • 80 Download
  • 11 Crossref
AbstractAbstract 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.


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.


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).


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.


Citations to this article as recorded by  
  • 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
    American Journal of Neuroradiology.2023; 44(9): 1020.     CrossRef
  • Manual and automated analysis of atrophy patterns in dementia with Lewy bodies on MRI
    Eya Khadhraoui, Sebastian Johannes Müller, Niels Hansen, Christian Heiner Riedel, Philip Langer, Charles Timäeus, Jens Wiltfang, Caroline Bouter, Claudia Lange, Marielle Ernst
    BMC Neurology.2022;[Epub]     CrossRef
  • Cholinergic white matter pathways in dementia with Lewy bodies and Alzheimer’s disease
    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
    Frontiers in Aging Neuroscience.2022;[Epub]     CrossRef
  • In vivo nucleus basalis of Meynert degeneration in mild cognitive impairment with Lewy bodies
    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
    Brain Pathology.2018; 28(3): 315.     CrossRef
  • Nucleus Basalis of Meynert Stimulation for Dementia: Theoretical and Technical Considerations
    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
  • Biomarkers for dementia and mild cognitive impairment in Parkinson's disease
    Manuel Delgado‐Alvarado, Belén Gago, Irene Navalpotro‐Gomez, Haritz Jiménez‐Urbieta, María C. Rodriguez‐Oroz
    Movement Disorders.2016; 31(6): 861.     CrossRef
  • Nucleus basalis of Meynert revisited: anatomy, history and differential involvement in Alzheimer’s and Parkinson’s disease
    Alan King Lun Liu, Raymond Chuen-Chung Chang, Ronald K. B. Pearce, Steve M. Gentleman
    Acta Neuropathologica.2015; 129(4): 527.     CrossRef

JMD : Journal of Movement Disorders