{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,9,24]],"date-time":"2025-09-24T10:29:19Z","timestamp":1758709759760},"reference-count":14,"publisher":"Springer Science and Business Media LLC","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2024,4,18]]},"DOI":"10.7759\/cureus.58522","type":"journal-article","created":{"date-parts":[[2024,4,18]],"date-time":"2024-04-18T12:51:01Z","timestamp":1713444661000},"source":"Crossref","is-referenced-by-count":1,"title":["Pontocerebellar Hypoplasia Type 9: A Case Study Highlighting Distinctive Magnetic Resonance Imaging Features"],"prefix":"10.7759","author":[{"given":"Valentina","family":"Munera","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ver\u00f3nica","family":"Jaramillo","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Brayan","family":"Mu\u00f1oz-Caicedo","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sergio","family":"Vargas","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","reference":[{"key":"ref1","doi-asserted-by":"publisher","DOI":"10.1007\/s12311-020-01135-5","article-title":"Pontocerebellar hypoplasia: a pattern recognition approach","volume":"19","author":"R\u00fcsch CT","year":"2020","unstructured":"R\u00fcsch CT, B\u00f6lsterli BK, Kottke R, Steinfeld R, Boltshauser E. Pontocerebellar hypoplasia: a pattern recognition approach. Cerebellum. 2020, 19:569-82. 10.1007\/s12311-020-01135-5","journal-title":"Cerebellum"},{"key":"ref2","doi-asserted-by":"publisher","DOI":"10.21037\/qims.2019.08.12","article-title":"Neuroradiological findings in three cases of pontocerebellar hypoplasia type 9 due to AMPD2 mutation: typical MRI appearances and pearls for differential diagnosis","volume":"9","author":"Scola E","year":"2019","unstructured":"Scola E, Ganau M, Robinson R, et al.. Neuroradiological findings in three cases of pontocerebellar hypoplasia type 9 due to AMPD2 mutation: typical MRI appearances and pearls for differential diagnosis. Quant Imaging Med Surg. 2019, 9:1966-72. 10.21037\/qims.2019.08.12","journal-title":"Quant Imaging Med Surg"},{"key":"ref3","doi-asserted-by":"publisher","DOI":"10.1016\/j.cell.2013.07.005","article-title":"AMPD2 regulates GTP synthesis and is mutated in a potentially treatable neurodegenerative brainstem disorder","volume":"154","author":"Akizu N","year":"2013","unstructured":"Akizu N, Cantagrel V, Schroth J, et al.. AMPD2 regulates GTP synthesis and is mutated in a potentially treatable neurodegenerative brainstem disorder. Cell. 2013, 154:505-17. 10.1016\/j.cell.2013.07.005","journal-title":"Cell"},{"key":"ref4","doi-asserted-by":"publisher","DOI":"10.1038\/s41431-018-0098-2","article-title":"Clinical and genetic spectrum of AMPD2-related pontocerebellar hypoplasia type 9","volume":"26","author":"Kort\u00fcm F","year":"2018","unstructured":"Kort\u00fcm F, Jamra RA, Alawi M, et al.. Clinical and genetic spectrum of AMPD2-related pontocerebellar hypoplasia type 9. Eur J Hum Genet. 2018, 26:695-708. 10.1038\/s41431-018-0098-2","journal-title":"Eur J Hum Genet"},{"key":"ref5","doi-asserted-by":"publisher","DOI":"10.1007\/s13760-021-01800-4","article-title":"Pontocerebellar hypoplasia type-9 due to a novel p.Arg503Ter truncating variant in AMPD2: a report from India","volume":"123","author":"Holla VV","year":"2023","unstructured":"Holla VV, Tejasvi S, Reddy R, Saini J. Pontocerebellar hypoplasia type-9 due to a novel p.Arg503Ter truncating variant in AMPD2: a report from India. Acta Neurol Belg. 2023, 123:291-3. 10.1007\/s13760-021-01800-4","journal-title":"Acta Neurol Belg"},{"key":"ref6","doi-asserted-by":"publisher","DOI":"10.1186\/s13023-018-0826-2","article-title":"What's new in pontocerebellar hypoplasia? An update on genes and subtypes","volume":"13","author":"van Dijk T","year":"2018","unstructured":"van Dijk T, Baas F, Barth PG, Poll-The BT. What's new in pontocerebellar hypoplasia? An update on genes and subtypes. Orphanet J Rare Dis. 2018, 13:92. 10.1186\/s13023-018-0826-2","journal-title":"Orphanet J Rare Dis"},{"key":"ref7","doi-asserted-by":"publisher","DOI":"10.1212\/NXG.0000000000000014","article-title":"Complete callosal agenesis, pontocerebellar hypoplasia, and axonal neuropathy due to AMPD2 loss","volume":"1","author":"Marsh AP","year":"2015","unstructured":"Marsh AP, Lukic V, Pope K, et al.. Complete callosal agenesis, pontocerebellar hypoplasia, and axonal neuropathy due to AMPD2 loss. Neurol Genet. 2015, 1:e16. 10.1212\/NXG.0000000000000014","journal-title":"Neurol Genet"},{"key":"ref8","doi-asserted-by":"publisher","DOI":"10.1038\/s41431-018-0231-2","article-title":"CUGC for pontocerebellar hypoplasia type 9 and spastic paraplegia-63","volume":"27","author":"Marsh AP","year":"2019","unstructured":"Marsh AP, Novarino G, Lockhart PJ, Leventer RJ. CUGC for pontocerebellar hypoplasia type 9 and spastic paraplegia-63. Eur J Hum Genet. 2019, 27:161-6. 10.1038\/s41431-018-0231-2","journal-title":"Eur J Hum Genet"},{"key":"ref9","doi-asserted-by":"publisher","DOI":"10.38079\/igusabder.1022860","article-title":"Morphometric evaluation of pons development in pediatric population according to age and gender by magnetic resonance imaging","author":"Bayar Kapici O","year":"2022","unstructured":"Bayar Kapici O, Bayar V, Baykan A. Morphometric evaluation of pons development in pediatric population according to age and gender by magnetic resonance imaging. \u0130stanb.l Geli\u015fim \u00dcniv Sa\u011fl\u0131k Bilim Derg. 2022, 339-50. 10.38079\/igusabder.1022860","journal-title":"\u0130stanb.l Geli\u015fim \u00dcniv Sa\u011fl\u0131k Bilim Derg"},{"key":"ref10","doi-asserted-by":"publisher","DOI":"10.1007\/BF00612119","article-title":"The normal brain stem from infancy to old age. A morphometric MRI study","volume":"36","author":"Raininko R","year":"1994","unstructured":"Raininko R, Autti T, Vanhanen SL, Ylikoski A, Erkinjuntti T, Santavuori P. The normal brain stem from infancy to old age. A morphometric MRI study. Neuroradiology. 1994, 36:364-8. 10.1007\/BF00612119","journal-title":"Neuroradiology"},{"key":"ref11","doi-asserted-by":"publisher","DOI":"10.1177\/08830738211026052","article-title":"Neuroradiological mimics of periventricular leukomalacia","volume":"37","author":"Reddy N","year":"2022","unstructured":"Reddy N, Doyle M, Hanagandi P, et al.. Neuroradiological mimics of periventricular leukomalacia. J Child Neurol. 2022, 37:151-67. 10.1177\/08830738211026052","journal-title":"J Child Neurol"},{"key":"ref12","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.0000000000004542","article-title":"Teaching neuroImages: figure of 8. The clue to the diagnosis of AMPD2 pontocerebellar hypoplasia (PCH9)","volume":"89","author":"Severino M","year":"2017","unstructured":"Severino M, Zara F, Rossi A, Striano P. Teaching neuroImages: figure of 8. The clue to the diagnosis of AMPD2 pontocerebellar hypoplasia (PCH9). Neurology. 2017, 89:e172-3. 10.1212\/WNL.0000000000004542","journal-title":"Neurology"},{"key":"ref13","doi-asserted-by":"publisher","DOI":"10.1055\/s-0042-1748018","article-title":"Pontocerebellar hypoplasia type 9: a new case with a novel mutation and review of literature","author":"Abdelrahman HA","year":"2022","unstructured":"Abdelrahman HA, Akawi N, Al-Shamsi AM, Al-Gazali L, Ali BR. Pontocerebellar hypoplasia type 9: a new case with a novel mutation and review of literature. J Pediatr Genet. 2022, 10.1055\/s-0042-1748018","journal-title":"J Pediatr Genet"},{"key":"ref14","doi-asserted-by":"publisher","DOI":"10.1186\/s13052-022-01349-9","article-title":"Clinical, radiological, and genetic variation in pontocerebellar hypoplasia disorder and our clinical experience","volume":"48","author":"Bilge S","year":"2022","unstructured":"Bilge S, Mert GG, Herg\u00fcner \u00d6, \u00d6zcany\u00fcz D, Bozdo\u011fan ST, Kaya \u00d6, Haval\u0131 C. Clinical, radiological, and genetic variation in pontocerebellar hypoplasia disorder and our clinical experience. Ital J Pediatr. 2022, 48:169. 10.1186\/s13052-022-01349-9","journal-title":"Ital J Pediatr"}],"container-title":["Cureus"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.cureus.com\/articles\/244222-pontocerebellar-hypoplasia-type-9-a-case-study-highlighting-distinctive-magnetic-resonance-imaging-features","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,4,18]],"date-time":"2024-04-18T12:51:03Z","timestamp":1713444663000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.cureus.com\/articles\/244222-pontocerebellar-hypoplasia-type-9-a-case-study-highlighting-distinctive-magnetic-resonance-imaging-features"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,4,18]]},"references-count":14,"URL":"https:\/\/doi.org\/10.7759\/cureus.58522","relation":{},"ISSN":["2168-8184"],"issn-type":[{"value":"2168-8184","type":"print"}],"subject":[],"published":{"date-parts":[[2024,4,18]]}}}