Indian J Nucl Med
Department of Pathology, All India Institute of Medical Sciences, New Delhi, India.
Published: June 2021
The case of a 39-year-old woman presented with symptoms of progressive cerebellar degeneration for few months preceding by the diagnosis and treatment of breast cancer. The causative association was revealed with the strong positivity of antineuronal antibody. Because of the multidisciplinary team approach with surgery and adjuvant endocrine treatment, the patient did improve symptomatically and she is alive without any evidence of disease after 22 months following the initial diagnosis of the neurological disorder. Interestingly, neurological symptoms regressed partially after surgery. Early recognition and appropriate combined modality treatment of this rare presentation of breast cancer are imperative as it may be crucial for the disease outcome.
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http://dx.doi.org/10.4103/ijnm.IJNM_211_20 | DOI Listing |
Cerebellum
January 2025
Department of Neurology, Donders Institute for Brain, Cognition & Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands.
Repeat expansions in the fibroblast growth factor 14 gene (FGF14), associated with spinocerebellar ataxia type 27B (SCA27B), have emerged as a prevalent cause of previously unexplained late-onset cerebellar ataxia. Here, we present a patient with residual symptom of gait ataxia after complicated meningioma surgery, who presented with progressive symptoms of oculomotor disturbances, speech difficulties, vertigo and worsening of gait imbalance, twelve years post-resection. Neuroimaging revealed a surgical resection cavity in the dorsolateral side of the left cerebellar hemisphere, accompanied by gliosis in left cerebellar hemisphere extending into the vermis, extensive non-specific supratentorial periventricular white matter abnormalities, and mild atrophy of the cerebellar vermis.
View Article and Find Full Text PDFPLoS One
January 2025
Department of Neuroscience, Laboratory of Prion Neurobiology, Istituto di Ricerche Farmacologiche Mario Negri IRCCS, Milan, Italy.
There is no cure for Marinesco-Sjögren syndrome (MSS), a genetic multisystem disease linked to loss-of-function mutations in the SIL1 gene, encoding a BiP co-chaperone. Previously, we showed that the PERK kinase inhibitor GSK2606414 delays cerebellar Purkinje cell (PC) degeneration and the onset of ataxia in the woozy mouse model of MSS. However, GSK2606414 is toxic to the pancreas and does not completely rescue the woozy phenotype.
View Article and Find Full Text PDFJ Vis Exp
December 2024
The David and Inez Myers Laboratory for Cancer Genetics, Department of Human Molecular Genetics and Biochemistry, Faculty of Health and Medical Sciences, School of Medicine, Tel Aviv University;
Cerebellar Purkinje cells (PCs) exhibit a unique interplay of high metabolic rates, specific chromatin architecture, and extensive transcriptional activity, making them particularly vulnerable to DNA damage. This necessitates an efficient DNA damage response (DDR) to prevent cerebellar degeneration, often initiated by PC dysfunction or loss. A notable example is the genome instability syndrome, ataxia-telangiectasia (A-T), marked by progressive PC depletion and cerebellar deterioration.
View Article and Find Full Text PDFInt J Mol Sci
December 2024
Cerebro, Emoción y Conducta, School of Medicine, Universidad de las Américas (UDLA), Quito 170124, Ecuador.
Paraneoplastic cerebellar degeneration (PCD) is a rapidly progressive, immune-mediated syndrome characterized by the degeneration of Purkinje cells, often associated with the presence of antibodies targeting intracellular antigens within these cells. These autoantibodies are implicated in the induction of cytotoxicity, leading to Purkinje cell death, as demonstrated in in vitro models. However, the precise roles of antibodies and T lymphocytes in mediating neuronal injury remain a subject of ongoing research, with T cells appearing to be the main effectors of cerebellar injury.
View Article and Find Full Text PDFIndian J Nucl Med
November 2024
Department of Nuclear Medicine, All India Institute of Medical Sciences, Jodhpur, Rajasthan, India.
Paraneoplastic neurological syndrome (PNS) represents a rare group of central nervous system disorders that are unrelated to direct tumor invasion or metastasis but may be triggered by an immune system reaction to a neoplasm or malignant tumor. In many patients, PNS is diagnosed before identifying the primary cancer. In such instances, positron emission tomography/computed tomography scan can assess individuals with suspected PNS enabling the detection of hidden malignancies.
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