TSEN54 gene-related pontocerebellar hypoplasia type 2 presenting with exaggerated startle response: report of two cases in a family
Yıl: 2015 Cilt: 57 Sayı: 3 Sayfa Aralığı: 286 - 289 Metin Dili: İngilizce İndeks Tarihi: 29-07-2022
TSEN54 gene-related pontocerebellar hypoplasia type 2 presenting with exaggerated startle response: report of two cases in a family
Öz: The pontocerebellar hypoplasias (PCHs) are a heterogeneous group ofautosomal recessive disorders characterized by hypoplasia of the ventral ponsand cerebellum, with variable cerebral involvement and severe psychomotorretardation. Eight different subtypes (PCH1-8) have been reported up tonow. PCH2 is the most common type, generally caused by homozygousmutations in the TSEN54 gene and characterized by cerebellar hypoplasia thataffects the hemispheres more severely than the vermis, progressive cerebralatrophy, microcephaly, dyskinesia, seizures and death in early childhood. Wepresent two cousins with PCH2. Both patients presented with exaggeratedstartle response in the newborn period. Here we discuss the clinical andneuroradiological findings of PCH2, and its differentiation from familial startledisease or hereditary hyperekplexia
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| APA | Maraş Genç H, UYUR-YALÇINR E, ROSTİ R, GLEESON J, KARA B (2015). TSEN54 gene-related pontocerebellar hypoplasia type 2 presenting with exaggerated startle response: report of two cases in a family. , 286 - 289. |
| Chicago | Maraş Genç Hülya,UYUR-YALÇINR Emek,ROSTİ Rasim Özgür,GLEESON Joseph G.,KARA Bülent TSEN54 gene-related pontocerebellar hypoplasia type 2 presenting with exaggerated startle response: report of two cases in a family. (2015): 286 - 289. |
| MLA | Maraş Genç Hülya,UYUR-YALÇINR Emek,ROSTİ Rasim Özgür,GLEESON Joseph G.,KARA Bülent TSEN54 gene-related pontocerebellar hypoplasia type 2 presenting with exaggerated startle response: report of two cases in a family. , 2015, ss.286 - 289. |
| AMA | Maraş Genç H,UYUR-YALÇINR E,ROSTİ R,GLEESON J,KARA B TSEN54 gene-related pontocerebellar hypoplasia type 2 presenting with exaggerated startle response: report of two cases in a family. . 2015; 286 - 289. |
| Vancouver | Maraş Genç H,UYUR-YALÇINR E,ROSTİ R,GLEESON J,KARA B TSEN54 gene-related pontocerebellar hypoplasia type 2 presenting with exaggerated startle response: report of two cases in a family. . 2015; 286 - 289. |
| IEEE | Maraş Genç H,UYUR-YALÇINR E,ROSTİ R,GLEESON J,KARA B "TSEN54 gene-related pontocerebellar hypoplasia type 2 presenting with exaggerated startle response: report of two cases in a family." , ss.286 - 289, 2015. |
| ISNAD | Maraş Genç, Hülya vd. "TSEN54 gene-related pontocerebellar hypoplasia type 2 presenting with exaggerated startle response: report of two cases in a family". (2015), 286-289. |
| APA | Maraş Genç H, UYUR-YALÇINR E, ROSTİ R, GLEESON J, KARA B (2015). TSEN54 gene-related pontocerebellar hypoplasia type 2 presenting with exaggerated startle response: report of two cases in a family. Turkish Journal of Pediatrics, 57(3), 286 - 289. |
| Chicago | Maraş Genç Hülya,UYUR-YALÇINR Emek,ROSTİ Rasim Özgür,GLEESON Joseph G.,KARA Bülent TSEN54 gene-related pontocerebellar hypoplasia type 2 presenting with exaggerated startle response: report of two cases in a family. Turkish Journal of Pediatrics 57, no.3 (2015): 286 - 289. |
| MLA | Maraş Genç Hülya,UYUR-YALÇINR Emek,ROSTİ Rasim Özgür,GLEESON Joseph G.,KARA Bülent TSEN54 gene-related pontocerebellar hypoplasia type 2 presenting with exaggerated startle response: report of two cases in a family. Turkish Journal of Pediatrics, vol.57, no.3, 2015, ss.286 - 289. |
| AMA | Maraş Genç H,UYUR-YALÇINR E,ROSTİ R,GLEESON J,KARA B TSEN54 gene-related pontocerebellar hypoplasia type 2 presenting with exaggerated startle response: report of two cases in a family. Turkish Journal of Pediatrics. 2015; 57(3): 286 - 289. |
| Vancouver | Maraş Genç H,UYUR-YALÇINR E,ROSTİ R,GLEESON J,KARA B TSEN54 gene-related pontocerebellar hypoplasia type 2 presenting with exaggerated startle response: report of two cases in a family. Turkish Journal of Pediatrics. 2015; 57(3): 286 - 289. |
| IEEE | Maraş Genç H,UYUR-YALÇINR E,ROSTİ R,GLEESON J,KARA B "TSEN54 gene-related pontocerebellar hypoplasia type 2 presenting with exaggerated startle response: report of two cases in a family." Turkish Journal of Pediatrics, 57, ss.286 - 289, 2015. |
| ISNAD | Maraş Genç, Hülya vd. "TSEN54 gene-related pontocerebellar hypoplasia type 2 presenting with exaggerated startle response: report of two cases in a family". Turkish Journal of Pediatrics 57/3 (2015), 286-289. |
