Early onset primary dystonia |
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| Authors: | Giovanna Zorzi Federica Zibordi Barbara Garavaglia Nardo Nardocci |
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| Institution: | 1. Department of Child Neurology, Fondazione IRCCS Istituto Neurologico “Carlo Besta”, Via Celoria 11, 20133 Milano, Italy;2. Molecular Neurogenetics, Fondazione IRCCS Istituto Neurologico “Carlo Besta”, Via Celoria 11, 20133 Milano, Italy;1. Unit of Molecular Neurogenetics, The Foundation “Carlo Besta” Institute of Neurology IRCCS, Milan, Italy;2. Unit of Neuropediatry, The Foundation “Carlo Besta” Institute of Neurology IRCCS, Milan, Italy;3. Unit of Movement Disorders, The Foundation “Carlo Besta” Institute of Neurology IRCCS, Milan, Italy;4. MRC Mitochondrial Biology Unit, Cambridge, UK;5. Unit of Neuropediatry, Arcispedale Santa Maria Nuova, Reggio Emilia, Italy;1. Neurology Department, Hospital Dona Estefânia, Centro Hospitalar de, Lisboa Central, Lisbon, Portugal;2. Neuroradiology Department, Hospital Dona Estefânia, Centro Hospitalar de Lisboa, Central, Lisbon, Portugal;1. Molecular Neurogenetics Unit, IRCCS Foundation C. Besta Neurological Institute, Milan, Italy;2. Department of Child Neurology, IRCCS Foundation C. Besta Neurological Institute, Milan, Italy;3. Department of Translational Medicine, University of Milan Bicocca, Milan, Italy;4. Department of Neurological Sciences, Sapienza University, Rome, Italy;5. Department of Medicine and Surgery, University of Salerno, Salerno, Italy;6. Department of Clinical and Experimental Medicine, University of Messina, Messina, Italy;7. Institute of Neurology, Università Cattolica del Sacro Cuore, Rome, Italy;1. Department of Neurology, Yonsei University Wonju College of Medicine, Wonju, South Korea;2. Department of Laboratory Medicine, Yonsei University Wonju College of Medicine, Wonju, South Korea;3. Department of Laboratory Medicine and Genetics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, South Korea |
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| Abstract: | Dystonia is a syndrome characterized by sustained muscle contractions, frequently causing twisting and repetitive movements or abnormal postures. It is classified by age at onset, by distribution, and by aetiology. The aetiological classification distinguishes the following categories: primary, dystonia plus, secondary, heredo-degenerative and psychogenic dystonia.Primary dystonia is defined as clinical condition characterized by dystonia as the only neurological abnormality apart from tremor. Different genetic alterations and gene loci have been mapped in familial and sporadic patients. Early onset-primary dystonia (EO-PD) is the most severe form of primary dystonia, with clinical and genetic heterogeneity. It usually starts in one body part, subsequently spreads to involve other body regions with frequent generalization. DYT1 dystonia is transmitted as an autosomal dominant trait with reduced penetrance. The unique underlying mutation is a GAG deletion in the coding region of the TOR1A gene, located at chromosome 9q34. DYT16 dystonia is a novel recessive form of EO-PD, recently described in few patients, caused by mutations in the PRKRA gene located at chromosome 2q31. At least other two loci have been mapped, but there remains a large number of patients with EO-PD in whom no genetic alteration is discovered. |
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