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

Neurocase ◽  
2021 ◽  
pp. 1-10
Author(s):  
James Rini ◽  
Breton Asken ◽  
Ethan Geier ◽  
Katherine Rankin ◽  
Joel Kramer ◽  
...  
2007 ◽  
Vol 87 (8) ◽  
pp. 1078-1087 ◽  
Author(s):  
Teresa M Steffen ◽  
Bradley F Boeve ◽  
Louise A Mollinger-Riemann ◽  
Cheryl M Petersen

Background and Purpose: Progressive supranuclear palsy (PSP) and corticobasal degeneration (CBD) are slowly progressive tauopathies characterized by impaired balance, disturbances in gait, and frequent falls, among other features. Wheelchair dependence is an inevitable outcome in people with these disorders. Insufficient evidence exists regarding the effectiveness of exercise in the management of people with these disorders. This case report describes a program of exercise and long-term locomotor training, using a treadmill (both with and without body-weight support), to reduce falls and improve the balance and walking ability of a patient with mixed PSP and CBD features. Case Description: Six years after diagnosis with mixed PSP and CBD features, the client, a 72-year-old dentist, was seen for physical therapy for asymmetric limb apraxia, markedly impaired balance, and frequent falls during transitional movements. Intervention: Over a 2.5-year period, intervention included routine participation in an exercise group for people with Parkinson disease (mat exercise and treadmill training) and intermittent participation in individual locomotor training on a treadmill. The exercise group met for 1 hour, twice weekly. The individual treadmill sessions lasted 1 hour, once weekly, for two 14-week periods during the follow-up period. Outcomes: Over the 2.5-year period, fall frequency decreased, and tests of functional balance showed improved limits of stability (functional reach tests) and maintained balance function (Berg Balance Scale). Tests of walking performance showed only slight declines. A 4-wheeled walker was introduced and accepted by the client early in the intervention period. The client, with supervision, remained ambulatory with this wheeled walker in the community. Discussion: In this case report of a person with mixed PSP and CBD features, a physical therapy intervention, which included locomotor training using a treadmill and a long-term exercise program of stretching and strengthening, appears to have improved some dimensions of balance, slowed the rate of gait decline, prevented progression to wheelchair dependence, and decreased falls. Contrary to the expected decline in function, this client maintained independent mobility over a 2.5-year period. An ongoing, intensive program of exercise and locomotor training may help people with PSP and CBD maintain upright balance, decrease falls, and decrease the rate of decline of ambulation.


1992 ◽  
Vol 50 (2) ◽  
pp. 216-218
Author(s):  
J. Teotônio de Oliveira ◽  
Francisco E. Cota Cardoso

The case of a Brazilian patient with cortico-basal ganglionic degeneration (CBGD) is presented. Since three years ago, a 71-year old male displays asymmetric ideomotor apraxia, gait apraxia, cortical sensory impairment, myoclonus, limp dystonia and rigidity. His mental status is spared. There is neither consanguinity nor similar cases in his family. The differential diagnosis of CBGD is discussed. A brief review of the literature is made stressing the clinical and pathological features of CBGD. This disease is poorly known and probably underdiagnosed. Its diagnosis can be safely made based on clinical grounds.


Neurosurgery ◽  
1988 ◽  
Vol 22 (3) ◽  
pp. 581-588 ◽  
Author(s):  
Massimo S. Fiandaca ◽  
Wayne K. Ross ◽  
Gary S. Pearl ◽  
Roy A.E. Bakay

Abstract We report a case of a presacral teratoma containing a malignant carcinoid component associated with an anterior sacral meningocele that presented in a 35-year-old woman. The clinical, radiographic, and pathological features of these rare tumors, of presacral meningoceles, and of the hereditary presacral teratoma syndrome are discussed. (Neurosurgery 22:581-588, 1988)


2010 ◽  
Vol 32 (1) ◽  
pp. 159-163 ◽  
Author(s):  
Kumar Abhinav ◽  
Laura Marsh ◽  
Barbara Crain ◽  
Stephen G. Reich ◽  
Kevin Biglan

2013 ◽  
Vol 2013 ◽  
pp. 1-4 ◽  
Author(s):  
Meryam Ben Ameur El Youbi ◽  
Amina Mohtaram ◽  
Jinane Kharmoum ◽  
Imane Aaribi ◽  
Saoussane Kharmoum ◽  
...  

Background.Although some mature cases of teratomas have recently been described in the cervix, they are not commonly found in the uterus, especially in immature forms. An immature uterine teratoma relapsing after surgery as malignant neuroepithelioma has never been reported in the literature.Case Presentation.We describe a case of immature teratoma which occurred primarily in the uterus in a 56-year-old female. Treatment consisted of total simple hysterectomy. Three months after surgery, the patient relapsed with voluminous pelvic mass and was treated with bleomycin, etoposide, and cisplatin-containing chemotherapy regimen.Conclusion.In this report and according to the pertinent literature, clinical and pathological features and management of uterine immature teratomas are discussed. The mainstay of treatment is surgery. The prognosis of this unusual disease remains uncertain.


2014 ◽  
Vol 94 (2) ◽  
pp. 289-296 ◽  
Author(s):  
Teresa M. Steffen ◽  
Bradley F. Boeve ◽  
Cheryl M. Petersen ◽  
Leah Dvorak ◽  
Kejal Kantarci

Background and PurposeThis case report describes the effects of long-term (10-year) participation in a community exercise program for a client with mixed features of corticobasal degeneration (CBD) and progressive supranuclear palsy (PSP). The effects of exercise participation on both functional status and brain volume are described.Case DescriptionA 60-year-old male dentist initially reported changes in gait and limb coordination. He received a diagnosis of atypical CBD at age 66 years; PSP was added at age 72 years. At age 70 years, the client began a therapist-led community group exercise program for people with Parkinson disease (PD). The program included trunk and lower extremity stretching and strengthening, upright balance and strengthening, and both forward and backward treadmill walking. The client participated twice weekly for 1 hour for 10 years and was reassessed in years 9 to 10.OutcomesFalls (self-reported weekly over the 10-year period of the study by the client and his wife) decreased from 1.9 falls per month in year 1 to 0.3 falls per month in year 10. Balance, walking endurance, and general mobility declined slightly. Gait speed (both comfortable and fast) declined; the client was unable to vary gait speed. Quantitative brain measurements indicated a slow rate of whole brain volume loss and ventricular expansion compared with clients with autopsy-proven CBD or PSP.DiscussionThis client has participated consistently in a regular group exercise program for 10 years. He has reduced fall frequency, maintained balance and endurance, and retained community ambulation using a walker. Combined with the slow rate of brain volume loss, this evidence supports the efficacy of a regular exercise program to prolong longevity and maintain function in people with CBD or PSP.


2020 ◽  
Vol 8 (1) ◽  
pp. 1-12
Author(s):  
Gabriel Castelluccio ◽  
Gonzalo Bertullo

Glioblastoma is the most common and malignant primary brain tumor but its occurrence in the cerebellum is very rare. Giving its low occurrence the treatment modalities and outcome of this glioblastoma location are still poorly understood. We present the case of an adult woman with a cerebellar glioblastoma treated at the Clinical Hospital of Montevideo, and we perform a non-systematic review of the literature concerning the clinical, radiological and pathological features of this tumor, as well as its treatment modalities, prognostic factors and outcome.


2019 ◽  
Vol 2 (2) ◽  
pp. 44-47
Author(s):  
Mokrani A ◽  
Behi K ◽  
Sbika W ◽  
Mghirbi F ◽  
Yahyoui Y ◽  
...  

Hepatoid adenocarcinoma (HAC) is defined as an extrahepatic tumor with hepatocyte differentiation. Hepatoid adenocarcinoma of the stomach (HAS) is a rare type of gastric cancer characterized by unique clinico-pathological features and a poor prognosis. We report a case of a metastatic HAS with a review of the literature.


Neurosurgery ◽  
1985 ◽  
Vol 17 (3) ◽  
pp. 413-418 ◽  
Author(s):  
Mario A. Cerame ◽  
Murali Guthikonda ◽  
Chander M. Kohli

Abstract This report details the case of an 11-year-old girl with gliosarcoma and her rapid demise after a brief asymptomatic postcraniotomy period. The discussion that follows is a collective review of the several aspects illustrated by the case history. Special attention is directed toward the pathological features of this histological variant of glioblastoma multiforme. The topic of extraneural metastasis is reviewed with regard to frequency, mechanisms, sites, and prognosis.


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