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Dergiler / Turkish Journal of Pediatrics / 2015 / Cilt: 57 - Sayı: 3

TSEN54 gene-related pontocerebellar hypoplasia type 2 presenting with exaggerated startle response: report of two cases in a family

Hülya MARAŞ GENÇ
Emek UYUR-YALÇINR
Rasim Özgür ROSTİ
Joseph G. GLEESON
Bülent KARA
Sayfa
286–289
DOI
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Here we discuss the clinical and neuroradiological findings of PCH2, and its differentiation from familial startle disease or hereditary hyperekplexia

📌 3 Maddede Bu Makale

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Amaç & Hipotez:The pontocerebellar hypoplasias (PCHs) are a heterogeneous group of autosomal recessive disorders characterized by hypoplasia of the ventral pons and cerebellum, with variable cerebral involvement and severe psychomotor retardation.
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Temel Bulgular & Veri:Eight different subtypes (PCH1-8) have been reported up to now.
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Sonuç & Katkı:Here we discuss the clinical and neuroradiological findings of PCH2, and its differentiation from familial startle disease or hereditary hyperekplexia
🔬Tür:Araştırma Makalesi
📍Kapsam:Genişletilmiş Akademik Örneklem
⚙️Değişkenler:Alan Parametreleri

Özet

The pontocerebellar hypoplasias (PCHs) are a heterogeneous group of autosomal recessive disorders characterized by hypoplasia of the ventral pons and cerebellum, with variable cerebral involvement and severe psychomotor retardation. Eight different subtypes (PCH1-8) have been reported up to now. PCH2 is the most common type, generally caused by homozygous mutations in the TSEN54 gene and characterized by cerebellar hypoplasia that affects the hemispheres more severely than the vermis, progressive cerebral atrophy, microcephaly, dyskinesia, seizures and death in early childhood. We present two cousins with PCH2. Both patients presented with exaggerated startle response in the newborn period. Here we discuss the clinical and neuroradiological findings of PCH2, and its differentiation from familial startle disease or hereditary hyperekplexia

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Bu Makaleye Atıf Yap

GENÇ, H. M., UYUR-YALÇINR, E., ROSTİ, R. Ö., GLEESON, J. G., 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, Cilt: 57 - Sayı: 3, 286–289. https://ajindex.com/articles/412288

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Kaynakça (8)

  1. Barth PG. Pontocerebellar hypoplasias. An overview of a group of inherited neurodegenerative disorders with fetal onset. Brain Dev 1993; 15: 411-422
  2. Rudnik-Schöneborn S, Barth PG, Zerres K. Pontocerebellar hypoplasia. Am J Med Genet C Semin Med Genet 2014; 166: 173-183
  3. Namavar Y, Barth PG, Poll-The BT, Baas F. Classification, diagnosis and potential mechanisms in pontocerebellar hypoplasia. Orphanet J Rare Dis 2011; 6: 50
  4. Praveen V, Patole SK, Whitehall JS. Hyperekplexia in neonates. Postgrad Med J 2001; 77: 570-572
  5. Bakker MJ, van Dijk JG, van den Maagdenberg AM, Tijssen MA. Startle syndromes. Lancet Neurol 2006; 5: 513-524
  6. Namavar Y, Barth PG, Kasher PR, et al. Clinical, neuroradiological and genetic findings in pontocerebellar hypoplasia. Brain 2011; 134: 143-156
  7. Messerschmidt A, Brugger PC, Boltshauser E, et al. Disruption of cerebellar development: potential complication of extreme prematurity. AJNR Am J Neuroradiol 2005; 26: 1659–1667
  8. Namavar Y, Eggens VRC, Barth PG, Baas F. TSEN54- Related Pontocerebellar Hypoplasia. 2009 Sep 8 [updated 2013 Oct 24]. In: Pagon RA, Adam MP, Ardinger HH, et al. (eds). GeneReviews [Internet]. Seattle, WA: University of Washington, Seattle; 1993- 2014. Retrieved from: http://www.ncbi.nlm.nih.gov/ books/NBK9673/.