Inclusion body myositis in patients with spinocerebellar ataxia types 3 and 6
| Autor: | Joost Raaphorst, Bart P.C. van de Warrenburg, Baziel G.M. van Engelen, Sabrina Sacconi, Judith van Gaalen, Anke Rietveld, Kees Okkersen, Benno Küsters, Christiaan G J Saris |
|---|---|
| Přispěvatelé: | Neurology, ANS - Neurodegeneration |
| Jazyk: | angličtina |
| Rok vydání: | 2020 |
| Předmět: |
Adult
Male musculoskeletal diseases medicine.medical_specialty Adolescent Biopsy education Neurological examination Disease Myositis Inclusion Body 03 medical and health sciences Young Adult 0302 clinical medicine Internal medicine parasitic diseases medicine Humans Spinocerebellar Ataxias IBM Muscle Skeletal reproductive and urinary physiology 030304 developmental biology Aged Ultrasonography 0303 health sciences Muscle biopsy Muscle Weakness medicine.diagnostic_test Cerebellar ataxia business.industry Muscle weakness hemic and immune systems Machado-Joseph Disease Middle Aged Disorders of movement Donders Center for Medical Neuroscience [Radboudumc 3] medicine.disease Psychiatry and Mental health incl body myositis Spinocerebellar ataxia Surgery Female Neurology (clinical) cerebellar ataxia medicine.symptom Inclusion body myositis business 030217 neurology & neurosurgery |
| Zdroj: | Journal of Neurology, Neurosurgery and Psychiatry, 91(8), 876-878. BMJ Publishing Group Journal of Neurology, Neurosurgery, and Psychiatry, 91, 876-878 Journal of Neurology, Neurosurgery, and Psychiatry, 91, 8, pp. 876-878 |
| ISSN: | 0022-3050 |
| Popis: | ObjectivesTo describe the combination of spinocerebellar ataxia (SCA) types 3 and 6 and sporadic inclusion body myositis (IBM).MethodsA description of five patients with SCA type 3 and 6 who were diagnosed with IBM. We explore possible mechanisms explaining the coexistence of both diseases.ResultsThe patients with SCA-3 (n=4) and SCA-6 (n=1) developed asymmetric muscle weakness in a pattern suggestive of IBM in the course of their disease. Based on findings of neurological examination and additional investigations (muscle ultrasound, muscle biopsy), the diagnosis of IBM was made in all patients.ConclusionWe report on five patients with concomitant SCA and IBM. Our cases may merely illustrate coincidental co-occurrence of IBM and SCA-3/SCA-6. However, the presence of SCA mutations could predispose to the development of IBM in some SCA patients, or, the presence of toxic aggregates and malfunctioning of cellular quality control processes in both diseases could indicate a convergence of disease mechanisms. |
| Databáze: | OpenAIRE |
| Externí odkaz: |
|