Concomitant occurrence of FXTAS and clinically defined sporadic inclusion body myositis: report of two cases
| Autor: | S Tisch, Samuel Bolitho, Hilary Gonzales, Randi J Hagerman, Roger Pamphlett, Verónica Martínez Cerdeño, Mina Hah, Mirna Lechpammer, Flora Tassone, Ronald Joffe, Michael R. Hunsaker, Paul J. Hagerman |
|---|---|
| Rok vydání: | 2017 |
| Předmět: |
0301 basic medicine
Male Pathology medicine.medical_specialty Ataxia Intellectual and Developmental Disabilities (IDD) Sporadic Inclusion Body Myositis Case Report Neurodegenerative Medical and Health Sciences Inclusion Body Myositis Inclusion Body 03 medical and health sciences 0302 clinical medicine Rare Diseases Fatal Outcome General & Internal Medicine Tremor Genetics Medicine 2.1 Biological and endogenous factors Humans Aetiology Myositis Aged business.industry Pain Research Clinical course Neurosciences General Medicine Middle Aged medicine.disease FMR1 3. Good health Brain Disorders Fmr1 gene 030104 developmental biology Concomitant Musculoskeletal Fragile X Syndrome Neurological Female medicine.symptom Inclusion body myositis business 030217 neurology & neurosurgery |
| Zdroj: | Croatian medical journal, vol 58, iss 4 Croatian Medical Journal |
| Popis: | This report describes unique presentations of inclusion body myositis (IBM) in two unrelated patients, one male and one female, with genetically and histologically confirmed fragile X-associated tremor/ataxia syndrome (FXTAS). We summarize overlapping symptoms between two disorders, clinical course, and histopathological analyses of the two patients with FXTAS and sporadic IBM, clinically defined per diagnostic criteria of the European Neuromuscular Centre. In case 1, a post-mortem analysis of available brain and muscle tissues is also described. Histopathological features (rimmed vacuoles) consistent with clinically defined IBM were detected in both presented cases. Postmortem testing in case 1 revealed the presence of an FMR1 premutation allele of 60 CGG repeats in both brain and skeletal muscle samples. Case 2 was a premutation carrier with 71 CGG repeats who had a son with FXS. Given that FXTAS is associated with immune-mediated disorders among premutation carriers, it is likely that the pathogeneses of IBM and FXTAS are linked. This is, to our knowledge, the first report of these two conditions presenting together, which expands our understanding of clinical symptoms and unusual presentations in patients with FXTAS. Following detection of a premutation allele of the FMR1 gene, FXTAS patients with severe muscle pain should be assessed for IBM. |
| Databáze: | OpenAIRE |
| Externí odkaz: |
|