Literature DB >> 33754963

Genetic pleiotropy and the shared pathological features of corticobasal degeneration and progressive supranuclear palsy: a case report and a review of the literature.

James Rini1,2, Breton Asken1,2, Ethan Geier1,2, Katherine Rankin1,2, Joel Kramer1,2, Adam Boxer1,2, Bruce Miller1,2, Jennifer Yokoyama1,2, Salvatore Spina1,2.   

Abstract

Though distinct pathological entities, corticobasal degeneration (CBD) and progressive supranuclear palsy (PSP) share multiple biochemical and genetic features suggesting overlapping pathophysiology. We report the case of a patient with an 18-year clinical course consistent with behavioral variant frontotemporal dementia. The neuropathological assessment revealed unclassifiable frontotemporal lobar degeneration with tau-immunoreactive inclusions sharing features of both CBD and PSP. Whole-genome sequencing revealed a unique combination of pleiotropic genetic risk variants associated with both PSP and CBD. These findings support the observation that CBD and PSP share genetic co-expression networks that influence neurodegenerative pathogenesis common to 4R tauopathies.

Entities:  

Keywords:  Corticobasal degeneration; atypical; frontotemporal dementia; genetics; neuropathology; pleiotropy; progressive supranuclear palsy

Mesh：

Substances：

Year:  2021        PMID： 33754963      PMCID： PMC8137543          DOI： 10.1080/13554794.2021.1879869

Source DB:  PubMed          Journal:  Neurocase        ISSN： 1355-4794            Impact factor:   0.881


  46 in total

1.  Corticobasal degeneration: clinical aspects.

Authors:  Thomas H Bak; John R Hodges
Journal:  Handb Clin Neurol       Date:  2008

2.  Office of Rare Diseases neuropathologic criteria for corticobasal degeneration.

Authors:  D W Dickson; C Bergeron; S S Chin; C Duyckaerts; D Horoupian; K Ikeda; K Jellinger; P L Lantos; C F Lippa; S S Mirra; M Tabaton; J P Vonsattel; K Wakabayashi; I Litvan
Journal:  J Neuropathol Exp Neurol       Date:  2002-11       Impact factor: 3.685

Review 3.  Clinical research criteria for the diagnosis of progressive supranuclear palsy (Steele-Richardson-Olszewski syndrome): report of the NINDS-SPSP international workshop.

Authors:  I Litvan; Y Agid; D Calne; G Campbell; B Dubois; R C Duvoisin; C G Goetz; L I Golbe; J Grafman; J H Growdon; M Hallett; J Jankovic; N P Quinn; E Tolosa; D S Zee
Journal:  Neurology       Date:  1996-07       Impact factor: 9.910

Review 4.  Disentangling the role of the tau gene locus in sporadic tauopathies.

Authors:  J Vandrovcova; F Anaya; V Kay; A Lees; J Hardy; R de Silva
Journal:  Curr Alzheimer Res       Date:  2010-12       Impact factor: 3.498

5.  Evaluation of the chromosome 2q37.3 gene CENTG2 as an autism susceptibility gene.

Authors:  Thomas H Wassink; Joseph Piven; Veronica J Vieland; Laura Jenkins; Rebecca Frantz; Christopher W Bartlett; Rhinda Goedken; Deb Childress; M Anne Spence; Moyra Smith; Val C Sheffield
Journal:  Am J Med Genet B Neuropsychiatr Genet       Date:  2005-07-05       Impact factor: 3.568

6.  Identification of common variants influencing risk of the tauopathy progressive supranuclear palsy.

Authors:  Günter U Höglinger; Nadine M Melhem; Dennis W Dickson; Patrick M A Sleiman; Li-San Wang; Lambertus Klei; Rosa Rademakers; Rohan de Silva; Irene Litvan; David E Riley; John C van Swieten; Peter Heutink; Zbigniew K Wszolek; Ryan J Uitti; Jana Vandrovcova; Howard I Hurtig; Rachel G Gross; Walter Maetzler; Stefano Goldwurm; Eduardo Tolosa; Barbara Borroni; Pau Pastor; Laura B Cantwell; Mi Ryung Han; Allissa Dillman; Marcel P van der Brug; J Raphael Gibbs; Mark R Cookson; Dena G Hernandez; Andrew B Singleton; Matthew J Farrer; Chang-En Yu; Lawrence I Golbe; Tamas Revesz; John Hardy; Andrew J Lees; Bernie Devlin; Hakon Hakonarson; Ulrich Müller; Gerard D Schellenberg
Journal:  Nat Genet       Date:  2011-06-19       Impact factor: 38.330

7.  Distinctive neuropsychological patterns in frontotemporal dementia, semantic dementia, and Alzheimer disease.

Authors:  Joel H Kramer; Jennifer Jurik; Sharon J Sha; Kate P Rankin; Howard J Rosen; Julene K Johnson; Bruce L Miller
Journal:  Cogn Behav Neurol       Date:  2003-12       Impact factor: 1.600

8.  Association of missense and 5'-splice-site mutations in tau with the inherited dementia FTDP-17.

Authors:  M Hutton; C L Lendon; P Rizzu; M Baker; S Froelich; H Houlden; S Pickering-Brown; S Chakraverty; A Isaacs; A Grover; J Hackett; J Adamson; S Lincoln; D Dickson; P Davies; R C Petersen; M Stevens; E de Graaff; E Wauters; J van Baren; M Hillebrand; M Joosse; J M Kwon; P Nowotny; L K Che; J Norton; J C Morris; L A Reed; J Trojanowski; H Basun; L Lannfelt; M Neystat; S Fahn; F Dark; T Tannenberg; P R Dodd; N Hayward; J B Kwok; P R Schofield; A Andreadis; J Snowden; D Craufurd; D Neary; F Owen; B A Oostra; J Hardy; A Goate; J van Swieten; D Mann; T Lynch; P Heutink
Journal:  Nature       Date:  1998-06-18       Impact factor: 49.962

9.  Sensitivity of revised diagnostic criteria for the behavioural variant of frontotemporal dementia.

Authors:  Katya Rascovsky; John R Hodges; David Knopman; Mario F Mendez; Joel H Kramer; John Neuhaus; John C van Swieten; Harro Seelaar; Elise G P Dopper; Chiadi U Onyike; Argye E Hillis; Keith A Josephs; Bradley F Boeve; Andrew Kertesz; William W Seeley; Katherine P Rankin; Julene K Johnson; Maria-Luisa Gorno-Tempini; Howard Rosen; Caroline E Prioleau-Latham; Albert Lee; Christopher M Kipps; Patricia Lillo; Olivier Piguet; Jonathan D Rohrer; Martin N Rossor; Jason D Warren; Nick C Fox; Douglas Galasko; David P Salmon; Sandra E Black; Marsel Mesulam; Sandra Weintraub; Brad C Dickerson; Janine Diehl-Schmid; Florence Pasquier; Vincent Deramecourt; Florence Lebert; Yolande Pijnenburg; Tiffany W Chow; Facundo Manes; Jordan Grafman; Stefano F Cappa; Morris Freedman; Murray Grossman; Bruce L Miller
Journal:  Brain       Date:  2011-08-02       Impact factor: 13.501

10.  The genetic and clinico-pathological profile of early-onset progressive supranuclear palsy.

Authors:  Edwin Jabbari; John Woodside; Manuela M X Tan; Nicola Pavese; Oliver Bandmann; Boyd C P Ghosh; Luke A Massey; Erica Capps; Tom T Warner; Andrew J Lees; Tamas Revesz; Janice L Holton; Nigel M Williams; Donald G Grosset; Huw R Morris
Journal:  Mov Disord       Date:  2019-07-12       Impact factor: 10.338
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  1 in total

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Authors:  Jian Luo
Journal:  Biomedicines       Date:  2022-05-23
  1 in total

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