Sporadic Hemiplegic Migraine Type 1 and Congenital Ataxia due to a Single Amino Acid Deletion (ΔF1502) in CACNA1A: A Challenging Diagnosis
| العنوان: | Sporadic Hemiplegic Migraine Type 1 and Congenital Ataxia due to a Single Amino Acid Deletion (ΔF1502) in CACNA1A: A Challenging Diagnosis |
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| المؤلفون: | Valeria A. Sansone, Andrea Barp, Emilio Albamonte, Elena Carraro, Stefania Bergamoni, Lorenzo Maggi, Valentina Duga, Alice Passarini |
| المصدر: | Journal of Pediatric Neurology. 20:067-070 |
| بيانات النشر: | Georg Thieme Verlag KG, 2021. |
| سنة النشر: | 2021 |
| مصطلحات موضوعية: | 0301 basic medicine, congenital, hereditary, and neonatal diseases and abnormalities, medicine.medical_specialty, business.industry, Sporadic hemiplegic migraine, 030105 genetics & heredity, Gastroenterology, Congenital ataxia, 03 medical and health sciences, 0302 clinical medicine, Internal medicine, Pediatrics, Perinatology and Child Health, medicine, Neurology (clinical), Single amino acid, business, 030217 neurology & neurosurgery |
| الوصف: | Mutations in the CACNA1A gene have been classically related to three neurologic disorders: hemiplegic migraine type 1 (both familiar and sporadic FHM1/SHM1), episodic ataxia type 2 (EA2), and spinocerebellar ataxia type 6 (SCA6). More recently, pathogenic variants in CACNA1A have been recognized as causative of an early-onset cerebellar syndrome consistent with the definition of congenital ataxia (CA), variably associated with paroxysmal symptoms. Early recognition of congenital ataxia is challenging because the presenting symptoms, such as hypotonia, weak deep tendon reflexes, and delayed motor milestones, are unspecific while clear signs of a cerebellar syndrome which are usually not seen before the second or third year. Here, we report on a case of nonepisodic ataxia of congenital onset and severe SHM1 where the diagnosis of congenital ataxia was made retrospectively after the identification of the ΔF1502 pathogenic variant in CACNA1A by an hemiplegic migraine multigene panel, conducted for the onset of hemiplegic migraine attacks associated with hemispheric swelling. A significant reduction in migraine attacks frequency was achieved with acetazolamide. |
| تدمد: | 1875-9041 1304-2580 |
| الوصول الحر: | https://explore.openaire.eu/search/publication?articleId=doi_________::44098e4c7b718054d1f64432c041bb9cTest https://doi.org/10.1055/s-0041-1725984Test |
| رقم الانضمام: | edsair.doi...........44098e4c7b718054d1f64432c041bb9c |
| قاعدة البيانات: | OpenAIRE |
| تدمد: | 18759041 13042580 |
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