A new variable phenotype in spinocerebellar ataxia 27 (SCA 27) caused by a deletion in the FGF14 gene |
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| Institution: | 1. Department of Paediatric Neurology, Haga Teaching Hospital, The Hague, The Netherlands;2. Department of Neurology, Ashford and St Peter''s Hospitals, United Kingdom;3. Department of Neurology, St George''s Hospitals, United Kingdom;4. Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands;1. Department of Neuropediatrics, Hospital Universitario Quirón, Madrid, Spain;2. Department of Neurology, Hospital Universitario Quirón, Madrid, Spain;3. Paediatric Primary Care, Centro de Salud Doctor Cirajas, Madrid, Spain;4. Radiodiagnostics Department, Hospital Universitario Quirón, Madrid, Spain;5. Department of Neuro-radiology, Hospital Universitario Quirón, Madrid, Spain;6. Department of Magnetic Resonance, Hospital Universitario Quirón, Madrid, Spain;7. Department of Neuropediatrics, Hospital Infanta Leonor de Vallecas, Madrid, Spain;8. Department of Neurology, Hospital Universitario Quirón, Madrid, Spain;9. Human Brain Mapping Unit, Complutense University of Madrid, Spain;1. Neurology Unit, Department of Clinical and Experimental Sciences, University of Brescia, Brescia, Italy;2. Department of Medical Sciences, University of Turin, Turin, Italy;3. Medical Genetics Unit, Città della Salute e della Scienza University Hospital, Turin, Italy;4. Neurologic Division 1, Department of Neuroscience and Mental Health, Città della Salute e della Scienza University Hospital, Turin, Italy;5. Neurology Unit, Cremona Hospital, Cremona, Italy;6. Neuroscience Institute Cavalieri Ottolenghi (NICO) and Department of Neuroscience, University of Turin, Turin, Italy;7. Department of Pharmacological and Biomolecular Sciences, University of Milan, Milan, Italy;8. Ospedale Regionale Microcitemie, ASL 8, Cagliari, Italy;1. Department of Medical Genetics, University of British Columbia, Vancouver, Canada;2. Division of Biochemical Diseases, Department of Pediatrics, British Columbia Children''s Hospital, Vancouver, Canada;3. Child and Family Research Institute, British Columbia Children''s Hospital, Vancouver, Canada;4. Centre for Molecular Medicine and Therapeutics, University of British Columbia, Vancouver, Canada;5. Division of Neurology, Department of Pediatrics, British Columbia Children''s Hospital, Vancouver, Canada;5. Department of Life Sciences, National Chung Hsing University, Taichung, Taiwan;7. Taipei Neuroscience Institute, Taipei Medical University, Taipei, Taiwan |
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| Abstract: | We present a young boy whose mild ataxia and abnormal eye movements repeatedly deteriorated with fever, making him unable to sit or walk during fever episodes. SNP-array analysis identified a 202 kb deletion in chromosome 13q33.1 containing the fibroblast growth factor (FGF)14 gene, which is associated with spinocerebellar ataxia (SCA) 27. This 13q deletion was also present in the proband's mother and grandmother. The mother was unable to perform tandem gait walking and had abnormal eye movements but had never sought medical attention. The grandmother predominantly had a postural tremor. FGF14 regulates brain sodium channels, especially in the cerebellum. Sodium channels can be fever sensitive. This family demonstrates phenotypic variability of FGF14 deletions (SCA 27), fever sensitivity of ataxia and the added value of SNP-array analysis in making a diagnosis. |
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| Keywords: | Fever Ataxia Phenotypic variability Fibroblast growth factor 14 (FGF14) SCA 27 |
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