B.02 Recessive mutations in ATP8A2 cause severe hypotonia, cognitive impairment, hyperkinetic movement disorders and progressive optic atrophy
| العنوان: | B.02 Recessive mutations in ATP8A2 cause severe hypotonia, cognitive impairment, hyperkinetic movement disorders and progressive optic atrophy |
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| المؤلفون: | Tuula Rinne, M. T. Cho, Boris Keren, Reza Maroofian, Michel Tchan, Heather M. McLaughlin, John Christodoulou, Mohammadreza Dehghani, Grace Yoon, Elena Martín-Hernández, Laurie L. Molday, David A. Koolen, Lindsay B. Henderson, Cas Simons, Diane Doummar, Aida Telegrafi, Charlotte A. Haaxma, M Vahidi Mehrjardi, Francis C. Lynn, Amanda Singleton, Alexander Asamoah, Julie Griffin, Daniel A Lelli, Corrie E. Erasmus, Hugh J. McMillan, Lea Velsher, Cyril Mignot, MJ Guillen Sacoto, I Thompson, Robert S. Molday |
| المصدر: | Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques. 45:S12-S12 |
| بيانات النشر: | Cambridge University Press (CUP), 2018. |
| سنة النشر: | 2018 |
| مصطلحات موضوعية: | Dystonia, Pediatrics, medicine.medical_specialty, Movement disorders, genetic structures, business.industry, Choreoathetosis, Chorea, General Medicine, Gene mutation, medicine.disease, Hypotonia, Epilepsy, Atrophy, Neurology, medicine, Neurology (clinical), medicine.symptom, business |
| الوصف: | Background:ATP8A2 mutations have only recently been associated with human disease. We present the clinical features from the largest cohort of patients with this disorder reported to date. Methods: An observational study of 9 unreported and 2 previously reported patients with biallelic ATP8A2 mutations was carried out at multiple centres. Results: The mean age of the cohort was 9.4 years old (range: 2.5-28 yrs). All patients demonstrated developmental delay, severe hypotonia and movement disorders: chorea/choreoathetosis (100%), dystonia (27%) or facial dyskinesia (18%). Hypotonia was apparent at birth (70%) or before 6 months old (100%). Optic atrophy was observed in 75% of patients who had a funduscopic examination. MRI of the brain was normal for most patients with a small proportion showing mild cortical atrophy (30%), delayed myelination (20%) and/or hypoplastic optic nerves (20%). Epilepsy was seen in two older patients. Conclusions:ATP8A2 gene mutations have emerged as a cause of a novel phenotype characterized by developmental delay, severe hypotonia and hyperkinetic movement disorders. Optic atrophy is common and may only become apparent in the first few years of life, necessitating repeat ophthalmologic evaluation. Early recognition of the cardinal features of this condition will facilitate diagnosis of this disorder. |
| تدمد: | 2057-0155 0317-1671 |
| الوصول الحر: | https://explore.openaire.eu/search/publication?articleId=doi_________::845c843878b6f919c98ad7705453fe8bTest https://doi.org/10.1017/cjn.2018.90Test |
| حقوق: | OPEN |
| رقم الانضمام: | edsair.doi...........845c843878b6f919c98ad7705453fe8b |
| قاعدة البيانات: | OpenAIRE |
| تدمد: | 20570155 03171671 |
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