Title |
Adult-onset Alexander disease, associated with a mutation in an alternative GFAP transcript, may be phenotypically modulated by a non-neutral HDAC6 variant
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Published in |
Orphanet Journal of Rare Diseases, May 2013
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DOI | 10.1186/1750-1172-8-66 |
Pubmed ID | |
Authors |
Laura Melchionda, Mingyan Fang, Hairong Wang, Valeria Fugnanesi, Michela Morbin, Xuanzhu Liu, Wenyan Li, Isabella Ceccherini, Laura Farina, Mario Savoiardo, Pio D’Adamo, Jianguo Zhang, Alfredo Costa, Sabrina Ravaglia, Daniele Ghezzi, Massimo Zeviani |
Abstract |
We studied a family including two half-siblings, sharing the same mother, affected by slowly progressive, adult-onset neurological syndromes. In spite of the diversity of the clinical features, characterized by a mild movement disorder with cognitive impairment in the elder patient, and severe motor-neuron disease (MND) in her half-brother, the brain Magnetic Resonance Imaging (MRI) features were compatible with adult-onset Alexander's disease (AOAD), suggesting different expression of the same, genetically determined, condition. |
X Demographics
Geographical breakdown
Country | Count | As % |
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Mexico | 1 | 50% |
Unknown | 1 | 50% |
Demographic breakdown
Type | Count | As % |
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Scientists | 1 | 50% |
Members of the public | 1 | 50% |
Mendeley readers
Geographical breakdown
Country | Count | As % |
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South Africa | 1 | 2% |
Canada | 1 | 2% |
Unknown | 54 | 96% |
Demographic breakdown
Readers by professional status | Count | As % |
---|---|---|
Researcher | 12 | 21% |
Student > Bachelor | 6 | 11% |
Other | 5 | 9% |
Student > Ph. D. Student | 5 | 9% |
Professor > Associate Professor | 4 | 7% |
Other | 13 | 23% |
Unknown | 11 | 20% |
Readers by discipline | Count | As % |
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Medicine and Dentistry | 12 | 21% |
Neuroscience | 11 | 20% |
Nursing and Health Professions | 5 | 9% |
Agricultural and Biological Sciences | 5 | 9% |
Biochemistry, Genetics and Molecular Biology | 2 | 4% |
Other | 6 | 11% |
Unknown | 15 | 27% |