We report a 66-year-old woman with slowly progressive ataxia due to cerebellar atrophy. Imaging studies revealed multiple lesions in both the lungs and dorsal subpleural space. A biopsy identified the lesions as metastases of a low-grade endometrial stromal sarcoma containing sex-cord elements. The histological appearance was identical to a uterine tumor the patient was treated for with hysterectomy 16 years before. The metastases were removed surgically, and after 3 months ataxia had regressed. We conclude that the presenting cerebellar degeneration in this patient resulted from the metastatic recurrence of the endometrial tumor.
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http://dx.doi.org/10.1159/000324927 | DOI Listing |
Autosomal-recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) is an early-onset neurodegenerative disease caused by mutations in the SACS gene. The first two mutations were identified in French Canadian populations 20 years ago. The disease is now known as one of the most frequent recessive ataxias worldwide.
View Article and Find Full Text PDFAlzheimers Dement
December 2024
Department of Biomedical Sciences, University of Antwerp, Antwerp, Belgium.
Background: Alzheimer's disease (AD) is a heterogenous disease with a strong heritability. Genetic studies are of irreplaceable value in elucidating the mechanisms that underly this disease. The classical genome-wide association studies (GWAS) rely on ever-increasing sample sizes and utilize clinical AD diagnosis to investigate genetic risk.
View Article and Find Full Text PDFJ Nucl Med
January 2025
Department of Clinical Neuroscience, Centre for Psychiatry Research, Karolinska Institutet and Stockholm Health Care Services, Stockholm, Sweden.
Serotonin transporter (SERT) availability was assessed using 2 tracers, [C],-dimethyl-2-(2-amino-4-cyanophenylthio)benzylamine ([C]DASB) and [C],-dimethyl-2-(2-amino-4-fluoromethylphenylthio)benzylamine) ([C]MADAM), in independent cohorts of patients and controls. This study aimed to independently confirm whether SERT remains intact in nondepressed individuals with early-stage Parkinson disease (PD), because the use of diverse methodologies could potentially yield disparate results. Seventeen PD patients (5 women and 12 men; age, 64 ± 7 y; Unified Parkinson's Disease Rating Scale motor score, 23 ± 5; Beck Depression Inventory score, 5 ± 4) and 20 age- and sex-matched healthy controls underwent [C]MADAM PET at Karolinska Institutet.
View Article and Find Full Text PDFNeuroscience
December 2024
Department of Radiology, Xiangya Hospital of Central South University, Changsha, 410008, China; National Clinical Research Center for Geriatric Disorders, Xiangya Hospital of Central South University, Changsha, 410008, China; National Engineering Research Center of Personalized Diagnostic and Therapeutic Technology, Xiangya Hospital of Central South University, Changsha, 410008, China; Hunan Engineering Research Center for Intelligent Medical Imaging, Changsha, 410078, Hunan, China; FuRong Laboratory, Changsha, 410078, Hunan, China. Electronic address:
Widespread white matter (WM) microstructural abnormalities have been reported in patients with spinocerebellar ataxia type 3 (SCA3) using diffusion tensor imaging (DTI), whereas the ability of DTI to detect WM degeneration over short-term period remains insufficiently explored. Additionally, WM dysfunction remains entirely unknown in this disease. This study aims to investigate WM structural and functional alterations in SCA3, and provide promising progression biomarkers for short-term clinical trials.
View Article and Find Full Text PDFNeurol Neurochir Pol
January 2024
Department of Neurology, Faculty of Health Science, Medical University of Warsaw, Warsaw, Poland.
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