Muscle ceroid lipofuscin-like deposits in a patient with corticobasal syndrome due to a progranulin mutation

2017 ◽  
Vol 32 (8) ◽  
pp. 1259-1260 ◽  
Author(s):  
Rossana Terlizzi ◽  
Maria Lucia Valentino ◽  
Anna Bartoletti-Stella ◽  
Marta Columbaro ◽  
Silvia Piras ◽  
...  
Keyword(s):  
Corticobasal Syndrome ◽  
Ceroid Lipofuscin

scholarly journals Unravelling Genetic Factors Underlying Corticobasal Syndrome: A Systematic Review

Cells ◽  
2021 ◽  
Vol 10 (1) ◽  
pp. 171
Author(s):  
Federica Arienti ◽  
Giulia Lazzeri ◽  
Maria Vizziello ◽  
Edoardo Monfrini ◽  
Nereo Bresolin ◽  
...  
Keyword(s):  
Risk Factors ◽  
Systematic Review ◽  
Genetic Risk ◽  
Genetic Factors ◽  
Diagnostic Algorithm ◽  
Behavioral Changes ◽  
Corticobasal Syndrome ◽  
Cochrane Library ◽  
Radiological Features ◽  
Genetically Determined

Corticobasal syndrome (CBS) is an atypical parkinsonian presentation characterized by heterogeneous clinical features and different underlying neuropathology. Most CBS cases are sporadic; nevertheless, reports of families and isolated individuals with genetically determined CBS have been reported. In this systematic review, we analyze the demographical, clinical, radiological, and anatomopathological features of genetically confirmed cases of CBS. A systematic search was performed using the PubMed, EMBASE, and Cochrane Library databases, included all publications in English from 1 January 1999 through 1 August 2020. We found forty publications with fifty-eight eligible cases. A second search for publications dealing with genetic risk factors for CBS led to the review of eight additional articles. GRN was the most common gene involved in CBS, representing 28 out of 58 cases, followed by MAPT, C9ORF72, and PRNP. A set of symptoms was shown to be significantly more common in GRN-CBS patients, including visuospatial impairment, behavioral changes, aphasia, and language alterations. In addition, specific demographical, clinical, biochemical, and radiological features may suggest mutations in other genes. We suggest a diagnostic algorithm to help in identifying potential genetic cases of CBS in order to improve the diagnostic accuracy and to better understand the still poorly defined underlying pathogenetic process.

Ogilvie's syndrome presented with delirium in an older lady with corticobasal syndrome

2021 ◽  
pp. 1-3
Author(s):  
Feyza Mutlay ◽  
Derya Kaya ◽  
Ahmet Turan Isik
Keyword(s):  
Palliative Care ◽  
Health Care Professionals ◽  
Colonic Obstruction ◽  
Holistic Approach ◽  
Abdominal Distension ◽  
Corticobasal Syndrome ◽  
Ogilvie's Syndrome ◽  
Geriatric Population ◽  
Ogilvie’S Syndrome ◽  
Neurological Illnesses

Abstract Objective Corticobasal syndrome (CBS) is one of an atypical parkinsonian syndromes characterized by extrapyramidal features as well as cortical involvement signs. A variety of factors may lead to delirium in older adults with chronic progressive life-limiting neurological illnesses like CBS. Ogilvie's syndrome (OS) is an acute colonic pseudo-obstruction in which abdominal distension, nausea, vomiting, and constipation can be seen. We report a case of OS identified as the underlying possible cause of delirium in an 80-year-old woman with CBS. We also discuss the importance of holistic approach which is essential to manage the underlying cause and to preserve the quality of life in particular for the frail geriatric population who potentially needs palliative care or already benefits from palliative care. Method An older patient with CBS presented with symptoms similar to that of acute colonic obstruction and subsequently developed delirium. The patient was found to have colonic pseudo-obstruction (OS). Result Neostigmin infusion was therefore given to treat it and delirium was resolved. Significance of results To the best of our knowledge, clinical manifestation of delirium as OS in a patient with CBS has not been previously reported. OS may be superimposed to CBS in older patients, and OS in such patients may play a role as a precipitating factor for the development of delirium. Given the fact that CBS is progressive and rare neurodegenerative disease and almost all of these patients need palliative care, eventually, health-care professionals, especially in palliative care, should be aware of distinctive challenges of life-limiting chronic neurological illnesses, such as conditions that may lead to the development of acute colonic pseudo-obstruction because the rapid treatment of them prevents the use of potentially harmful drugs, surgical procedures, or inappropriate interventions.

scholarly journals Characteristics of progressive supranuclear palsy presenting with corticobasal syndrome: a cortical variant

2014 ◽  
Vol 40 (2) ◽  
pp. 149-163 ◽  
Author(s):  
H. Ling ◽  
R. Silva ◽  
L. A. Massey ◽  
R. Courtney ◽  
G. Hondhamuni ◽  
...  
Keyword(s):  
Progressive Supranuclear Palsy ◽  
Corticobasal Syndrome

FDG-PET patterns associated with ideomotor apraxia and imitation apraxia in patients with corticobasal syndrome

2021 ◽  
Author(s):  
Sungyang Jo ◽  
Jungsu S. Oh ◽  
E-Nae Cheong ◽  
Hyung Ji Kim ◽  
Sunju Lee ◽  
...  
Keyword(s):  
Fdg Pet ◽  
Corticobasal Syndrome ◽  
Ideomotor Apraxia

Corticobasal Syndrome Due to Superficial Siderosis Caused by Thalamic Cavernoma

2016 ◽  
Vol 28 (1) ◽  
pp. e15-e16 ◽  
Author(s):  
Judit Bihari ◽  
Csilla Hornyák ◽  
Kristóf Szőke ◽  
János Vajda ◽  
Attila G. Bagó ◽  
...  
Keyword(s):  
Corticobasal Syndrome ◽  
Superficial Siderosis

VEGF Haplotypes are Associated with Increased Risk to Progressive Supranuclear Palsy and Corticobasal Syndrome

2010 ◽  
Vol 21 (1) ◽  
pp. 87-94 ◽  
Author(s):  
Barbara Borroni ◽  
Roberto Del Bo ◽  
Stefano Goldwurm ◽  
Silvana Archetti ◽  
Cristian Bonvicini ◽  
...  
Keyword(s):  
Progressive Supranuclear Palsy ◽  
Corticobasal Syndrome ◽  
Increased Risk

scholarly journals Globular Glial Tauopathy May be Mistaken for Corticobasal Syndrome-Pointers for the Clinician

2018 ◽  
Vol 5 (4) ◽  
pp. 439-441 ◽  
Author(s):  
Luca Marsili ◽  
Dennis W. Dickson ◽  
Alberto J. Espay
Keyword(s):  
Corticobasal Syndrome ◽  
Globular Glial Tauopathy
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