J Mov Disord.
2024 Apr;17(2):236-238. 10.14802/jmd.23222.
A Case of 18p Chromosomal Deletion Encompassing GNAL in a Patient With Dystonia-Parkinsonism
- Di Rauso G
1,2,3 - Cavallieri F3
- Monfrini E4,5
- Fraternali A6
- Fioravanti V3
- Grisanti S7
- Gessani A2
- Campanini I8
- Merlo A8
- Toschi G3
- Napoli M9
- Pascarella R9
- Silipigni R10
- Finelli P10,11
- Paul JJ12
- Bauer P12
- Versari A6
- Di Fonzo A5
- Valzania F3
- Affiliations
-
- 1Department of Biomedical, Metabolic and Neural Sciences, University of Modena and Reggio Emilia, Modena, Italy
- 2Neurology, Neuroscience Head Neck Department, Azienda Ospedaliero-Universitaria di Modena, Modena, Italy
- 3Neurology Unit, Neuromotor & Rehabilitation Department, Azienda USL-IRCCS di Reggio Emilia, Reggio Emilia, Italy
- 4Fondazione IRCCS Ca’ Granda Ospedale Maggiore Policlinico, Neurology Unit, Milan, Italy
- 5Dino Ferrari Center, Neuroscience Section, Department of Pathophysiology and Transplantation, University of Milan, Milan, Italy
- 6Nuclear Medicine Unit, Azienda Unità Sanitaria Locale-IRCCS of Reggio Emilia, Reggio Emilia, Italy
- 7Clinical and Experimental Medicine PhD Program, University of Modena and Reggio Emilia, Modena, Italy
- 8LAM-Motion Analysis Laboratory, Neuromotor and Rehabilitation Department, AUSL-IRCCS Reggio Emilia, Reggio Emilia, Italy
- 9Neuroradiology Unit, Radiology Department, Azienda USL-IRCCS di Reggio Emilia, Reggio Emilia, Italy
- 10Medical Genetics Laboratory, Fondazione IRCCS Ca’ Granda Ospedale Maggiore Policlinico, Milan, Italy
- 11Department of Medical Biotechnology and Translational Medicine, University of Milan, Segrate, Milan, Italy
- 12CENTOGENE GmbH, Rostock, Germany
- KMID: 2554703
- DOI: http://doi.org/10.14802/jmd.23222
- Full Text Links
-
- Actions
-
Cited
- CITED
-
- Close
- Share
-
- Similar articles
-
- A Case of De Novo 18p Deletion Syndrome with SensorineuralHearing Loss: A case report
- The Effect of Globus Pallidus Interna Deep Brain Stimulation on a Dystonia Patient with the GNAL Mutation Compared to Patients with DYT1 and DYT6
- Patent Ductus Arteriosus and Pulmonary Valve Stenosis in A Patient with 18p Deletion Syndrome
- Tremulous Dystonia Due to GNAL Haploinsufficiency Caused by 18p Deletion Syndrome
- Rapid-Onset Dystonia and Parkinsonism in a Patient With Gaucher Disease
