Classic ataxia-telangiectasia: the phenotype of long-term survivors

ConclusionsPaucity of descriptions in the literature, and withdrawal from medical care complicate the acquisition of follow-up data on the natural history of long-term survivors. Irrespective of these limitations, we have obtained impression of the many problems that these patients face when surviving beyond 30  years of age. Awareness of these problems is needed to guide follow-up, counselling, and (palliative) care; decisions about life-prolonging treatments should be well considered.
Source: Journal of Neurology - Category: Neurology Source Type: research

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Abstract BACKGROUND: Nivolumab has become an effective treatment option for cancer in various sites; however, this drug may cause immune-related adverse effects due to its mechanism of action. Furthermore, little has been reported on thiamine deficiency (TD) in patients receiving nivolumab treatment. METHOD: From a series of cancer patients, we reported a patient with recurrent renal cell carcinoma who developed TD after the start of nivolumab treatment. RESULTS: A 74-year-old man with recurrent renal cell carcinoma was referred to the psycho-oncology department as he had lost about 4 kg and displayed a ...
Source: Palliative and Supportive Care - Category: Palliative Care Authors: Tags: Palliat Support Care Source Type: research
Publication date: Available online 23 August 2019Source: SeizureAuthor(s): Alessandro Orsini, Angelo Valetto, Veronica Bertini, Mariagrazia Esposito, Niccolò Carli, Berge A. Minassian, Alice Bonuccelli, Diego Peroni, Roberto Michelucci, Pasquale StrianoAbstractProgressive Myoclonus Epilepsies (PMEs) are a group of uncommon clinically and genetically heterogeneous disorders characterised by myoclonus, generalized epilepsy, and neurological deterioration, including dementia and ataxia. PMEs may have infancy, childhood, juvenile or adult onset, but usually present in late childhood or adolescence, at variance from epil...
Source: Seizure - Category: Neurology Source Type: research
AbstractThe effective therapeutic treatment and the disease-modifying therapy for spinocerebellar ataxia type 2 (SCA2) (a progressive hereditary disease caused by an expansion of polyglutamine in the ataxin-2 protein) is not available yet. At present, only symptomatic treatment and methods of palliative care are prescribed to the patients. Many attempts were made to study the physiological, molecular, and biochemical changes in SCA2 patients and in a variety of the model systems to find new therapeutic targets for SCA2 treatment. A better understanding of the uncovered molecular mechanisms of the disease allowed the scient...
Source: Neurotherapeutics - Category: Neurology Source Type: research
CONCLUSIONS: Those patients preferring a hospital for end-of-life care exhibited more physical disability and lower quality of life than those who preferred home care. Making assisted living health-care services in the home more readily available and affordable may alleviate concerns of patients facing more severe physical challenges. PMID: 31088125 [PubMed - as supplied by publisher]
Source: The American Journal of Hospice and Palliative Care - Category: Palliative Care Authors: Tags: Am J Hosp Palliat Care Source Type: research
Abstract Progressive ataxia in adults can be difficult to diagnose, owing to its heterogeneity and the rarity of individual causes. Many patients remain undiagnosed ('idiopathic' ataxia). This paper provides suggested diagnostic pathways for the general neurologist, based on Ataxia UK's guidelines for professionals. MR brain scanning can provide diagnostic clues, as well as identify 'structural' causes such as tumours and multiple sclerosis. Advances in molecular genetics, including the wider and cheaper availability of 'next-generation sequencing', have enabled clinicians to identify many more cases with a geneti...
Source: Practical Neurology - Category: Neurology Authors: Tags: Pract Neurol Source Type: research
Conclusion This study described four Chinese LINCL siblings who were diagnosed by WES. The patients of these four families had similar disease courses started from motor regression or seizures to cognition regression and visual loss but carried mutations in different genes i.e. CLN2, CLN5, CLN6, and CLN7. The clinical features of LINCLs in these four Chinese siblings were not significantly different from those of Western patients. However, all Chinese LINCL patients in this study presented similar clinical course despite the affected genes. We assumed it as an ethnic specific clinical course according to our observation. ...
Source: Frontiers in Genetics - Category: Genetics & Stem Cells Source Type: research
We present the management of ataxia in adults, beginning with establish ing an accurate diagnosis, followed by treatment of the multiple symptoms seen in cerebellar disorders, with a view to maximizing quality of life and effectively living with the consequences of ataxia. We discuss the importance of a multidisciplinary approach to the management of ataxia, including m edical and non-medical management and the evidence base that supports these interventions. We address the pharmacological treatment of ataxia, tremor, and other associated movement disorders; ophthalmological symptoms; bowel, bladder, and sexual symptoms; o...
Source: Current Treatment Options in Neurology - Category: Neurology Source Type: research
CONCLUSIONS: Lafora disease is a rare pathology that has serious consequences for patients and their caregivers despite its low prevalence. Therefore, continuing research in order to clarify the underlying mechanisms and hopefully developing new palliative and curative treatments for the disease is necessary. PMID: 30638256 [PubMed - in process]
Source: Revista de Neurologia - Category: Neurology Authors: Tags: Rev Neurol Source Type: research
This report emphasizes the clinical diversity of WE and indicates the limits of the ability to diagnose WE from typical clinical symptoms. The presence of a loss of appetite for more than two weeks may be the key to the accurate diagnosis of WE. PMID: 29747720 [PubMed - as supplied by publisher]
Source: Palliative and Supportive Care - Category: Palliative Care Authors: Tags: Palliat Support Care Source Type: research
Rationale: Cognitive dysfunction is a common presenting symptom in patients with HIV/AIDS. It is usually directly associated with HIV infection or due to opportunistic infection. Rapidly progressive dementia, however, is rarely observed in acute HIV infection or during immune reconstitution. Recently, a case of Creutzfeld-Jakob disease (CJD) has been reported in a patient with chronic HIV infection. The incidence of CJD is not known to be increased among immunocompromised patients. Patient concerns: We here report the case of a 59-year-old male patient with a recent diagnosis of HIV/AIDS and Pneumocystis jiroveci pneu...
Source: Medicine - Category: Internal Medicine Tags: Research Article: Clinical Case Report Source Type: research
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