| Publication |
Sentence |
Publish Date |
Extraction Date |
Species |
| Lucia Laugwitz, Rebecca Buchert, Samuel Groeschel, Angelika Riess, Mona Grimmel, Stefanie Beck-Wödl, Marc Sturm, Georg Gohla, Marion Döbler-Neumann, Ingeborg Krägeloh-Mann, Tobias B Haac. Pontocerebellar hypoplasia type 11: Does the genetic defect determine timing of cerebellar pathology? European journal of medical genetics. vol 63. issue 7. 2021-01-04. PMID:32360255. |
while pontine hypoplasia and pronounced microcephaly are in line with previous reports on pch11, our observations of clearly postnatal atrophy of the cerebellum argues for a different pathomechanism than in the other forms of pch and supports the hypothesis that tbc1d23 deficiency predominantly interferes with postnatal rather than with prenatal cerebellar development. |
2021-01-04 |
2023-08-13 |
Not clear |
| Pascale Saugier-Veber, Florent Marguet, Myriam Vezain, Martine Bucourt, Pascaline Letard, Andrée Delahaye, Eva Pipiras, Thierry Frébourg, Bruno Gonzalez, Annie Laquerrièr. Pontocerebellar hypoplasia with rhombencephalosynapsis and microlissencephaly expands the spectrum of PCH type 1B. European journal of medical genetics. vol 63. issue 4. 2020-12-31. PMID:31770597. |
pch1b is characterized by a broad phenotypic spectrum, ranging from mild phenotypes with spasticity, mild to moderate intellectual disability, pronounced distal muscular and cerebellar atrophy/hypoplasia, to severe phenotypes with profound global developmental delay, progressive microcephaly and atrophy of the cerebellar hemispheres. |
2020-12-31 |
2023-08-13 |
Not clear |
| Ya-Yun Cheng, Ying-Tsen Chou, Feng-Jie Lai, Ming-Shiou Jan, Tsung-Hao Chang, I-Ming Jou, Pei-Shiuan Chen, Jui-Yen Lo, Shiang-Suo Huang, Nan-Shan Chang, Yung-Tsai Liou, Po-Chih Hsu, Hui-Ching Cheng, Yee-Shin Lin, Li-Jin Hs. Wwox deficiency leads to neurodevelopmental and degenerative neuropathies and glycogen synthase kinase 3β-mediated epileptic seizure activity in mice. Acta neuropathologica communications. vol 8. issue 1. 2020-12-23. PMID:32000863. |
cerebral malformations, such as microcephaly and incomplete separation of the hemispheres by a partial interhemispheric fissure, neuronal disorganization and heterotopia, and defective cerebellar midline fusion are observed in wwox |
2020-12-23 |
2023-08-13 |
mouse |
| Michal Gafner, Marina Michelson, Keren Yosovich, Lubov Blumkin, Tally Lerman-Sagie, Dorit Le. Infantile onset progressive cerebellar atrophy and anterior horn cell Degeneration-A novel phenotype associated with mutations in the PLA2G6 gene. European journal of medical genetics. vol 63. issue 4. 2020-12-01. PMID:31689548. |
there are ten known subtypes with common characteristics of pontine and cerebellar hypoplasia or atrophy, neocortical atrophy, and microcephaly. |
2020-12-01 |
2023-08-13 |
Not clear |
| Antonella Sferra, Stefania Petrini, Emanuele Bellacchio, Francesco Nicita, Francesco Scibelli, Maria Lisa Dentici, Paolo Alfieri, Gianluca Cestra, Enrico Silvio Bertini, Ginevra Zann. TUBB Variants Underlying Different Phenotypes Result in Altered Vesicle Trafficking and Microtubule Dynamics. International journal of molecular sciences. vol 21. issue 4. 2020-11-30. PMID:32085672. |
we used a combination of immunocytochemical and cellular approaches to explore, on patients' derived fibroblasts, the functional consequences of two tubb variants: the novel mutation (p.n52s), associated with basal ganglia and cerebellar dysgenesis, and the previously reported variant (p.m73t), linked to microcephaly, corpus callosum agenesis and csc-kt skin phenotype. |
2020-11-30 |
2023-08-13 |
human |
| Viivi Nevanlinna, Svetlana Konovalova, Berten Ceulemans, Mikko Muona, Anni Laari, Taru Hilander, Katarin Gorski, Leena Valanne, Anna-Kaisa Anttonen, Henna Tyynismaa, Carolina Courage, Anna-Elina Lehesjok. A patient with pontocerebellar hypoplasia type 6: Novel RARS2 mutations, comparison to previously published patients and clinical distinction from PEHO syndrome. European journal of medical genetics. vol 63. issue 3. 2020-11-19. PMID:31536827. |
the proband presented with severe intellectual disability, epilepsy with varying seizure types, optic atrophy, axial hypotonia, acquired microcephaly, dysmorphic features and progressive cerebral and cerebellar atrophy and delayed myelination on mri. |
2020-11-19 |
2023-08-13 |
Not clear |
| Cristina Olivieri, Anna Mondino, Matteo Chinello, Alessandra Risso, Enrico Finale, Marina Lanciotti, Andrea Gual. Clinical heterogeneity in a family with Pediatric reports. vol 9. issue 3. 2020-09-30. PMID:29081935. |
its severe form, recognized as hoyeraal-hreidarsson syndrome (hhs), also includes cerebellar hypoplasia, microcephaly, developmental delay and prenatal growth retardation. |
2020-09-30 |
2023-08-13 |
Not clear |
| Racha Khalaf, Carmen Cuffar. Colonic Angioectasia in an Adolescent Boy with Hoyeraal-Hreidarsson on Long-Term Anabolic Steroid Therapy. Pediatric gastroenterology, hepatology & nutrition. vol 21. issue 1. 2020-09-30. PMID:29383307. |
a 13-year-old caucasian male with hhs characterized by cerebellar hypoplasia, developmental delay, microcephaly, esophageal strictures and myelodysplasia presented with severe hematochezia from colonic angioectasia secondary to long-term oxymetholone therapy. |
2020-09-30 |
2023-08-13 |
Not clear |
| Shahad Bawazeer, Maha Alshalan, Aziza Alkhaldi, Nasser AlAtwi, Mohammed AlBalwi, Abdulrahman Alswaid, Majid Alfadhe. Tetrasomy 18p: case report and review of literature. The application of clinical genetics. vol 11. 2020-09-30. PMID:29467581. |
herein, we report de novo tetrasomy 18p in a 9-month-old boy with dysmorphic features, microcephaly, growth delay, hypotonia, and cerebellar and renal malformations. |
2020-09-30 |
2023-08-13 |
Not clear |
| Shanshan Wu, Yu Zeng, Alexander Lerner, Bo Gao, Meng La. Nervous System Injury and Neuroimaging of Zika Virus Infection. Frontiers in neurology. vol 9. 2020-09-30. PMID:29740383. |
the neuroimaging features of microcephaly secondary to zika virus infection include calcifications at the junction of gray-white matter and subcortical white matter with associated cortical abnormalities, diminution of white matter, large ventricles with or without hydrocephalus, cortical malformations, hypoplasia of cerebellum and brainstem, and enlargement of cerebellomedullary cistern. |
2020-09-30 |
2023-08-13 |
Not clear |
| Nicole J Van Bergen, Yiran Guo, Noraldin Al-Deri, Zhanna Lipatova, Daniela Stanga, Sarah Zhao, Rakhilya Murtazina, Valeriya Gyurkovska, Davut Pehlivan, Tadahiro Mitani, Alper Gezdirici, Jayne Antony, Felicity Collins, Mary J H Willis, Zeynep H Coban Akdemir, Pengfei Liu, Jaya Punetha, Jill V Hunter, Shalini N Jhangiani, Jawid M Fatih, Jill A Rosenfeld, Jennifer E Posey, Richard A Gibbs, Ender Karaca, Sean Massey, Thisara G Ranasinghe, Patrick Sleiman, Chris Troedson, James R Lupski, Michael Sacher, Nava Segev, Hakon Hakonarson, John Christodoulo. Deficiencies in vesicular transport mediated by TRAPPC4 are associated with severe syndromic intellectual disability. Brain : a journal of neurology. vol 143. issue 1. 2020-08-18. PMID:31794024. |
we undertook exome sequencing in three unrelated families of caucasian, turkish and french-canadian ethnicities with seven affected children that showed features of early-onset seizures, developmental delay, microcephaly, sensorineural deafness, spastic quadriparesis and progressive cortical and cerebellar atrophy in an effort to determine the genetic aetiology underlying neurodevelopmental disorders. |
2020-08-18 |
2023-08-13 |
human |
| Brooke Liang, José Paulo Guida, Maria Laura Costa Do Nascimento, Indira U Mysoreka. Host and viral mechanisms of congenital Zika syndrome. Virulence. vol 10. issue 1. 2020-08-03. PMID:31451049. |
while maternal symptoms of zikv are generally mild and self-limiting, clinical presentation in fetuses and newborns infected is extensive and includes microcephaly, decreased cortical development, atrophy and hypoplasia of the cerebellum and cerebellar vermis, arthrogryposis, and polyhydramnios. |
2020-08-03 |
2023-08-13 |
Not clear |
| Alessandro Ferretti, Sabina Barresi, Marina Trivisano, Andrea Ciolfi, Maria L Dentici, Francesca C Radio, Federico Vigevano, Marco Tartaglia, Nicola Specchi. POGZ-related epilepsy: Case report and review of the literature. American journal of medical genetics. Part A. vol 179. issue 8. 2020-07-28. PMID:31136090. |
besides dysmorphic features and other comorbidities (microcephaly, intellectual disability, absent speech, sensorineural hearing loss, and autistic spectrum disorder) major brain mr features include cortical and cerebellar atrophy, delayed myelination, and brainstem hypoplasia. |
2020-07-28 |
2023-08-13 |
human |
| Ghada M H Abdel-Salam, Inas Mazen, Maha Eid, Nour Ewida, Ranad Shaheen, Fowzan S Alkuray. Biallelic novel missense HHAT variant causes syndromic microcephaly and cerebellar-vermis hypoplasia. American journal of medical genetics. Part A. vol 179. issue 6. 2020-06-10. PMID:30912300. |
we report two siblings with microcephaly, early infantile onset seizures, and cerebellar vermis hypoplasia, in whom whole exome sequencing revealed a novel homozygous missense (c.770t>c, p.[leu257pro]) variant in the hedgehog acyl-transferase gene (hhat), encoding an enzyme required for the attachment of palmitoyl residues that are critical for multimerization and long and short range hedgehog signaling. |
2020-06-10 |
2023-08-13 |
Not clear |
| Pamela Magini, Daphne J Smits, Laura Vandervore, Rachel Schot, Marta Columbaro, Esmee Kasteleijn, Mees van der Ent, Flavia Palombo, Maarten H Lequin, Marjolein Dremmen, Marie Claire Y de Wit, Mariasavina Severino, Maria Teresa Divizia, Pasquale Striano, Natalia Ordonez-Herrera, Amal Alhashem, Ahmed Al Fares, Malak Al Ghamdi, Arndt Rolfs, Peter Bauer, Jeroen Demmers, Frans W Verheijen, Martina Wilke, Marjon van Slegtenhorst, Peter J van der Spek, Marco Seri, Anna C Jansen, Rolf W Stottmann, Robert B Hufnagel, Robert J Hopkin, Deema Aljeaid, Wojciech Wiszniewski, Pawel Gawlinski, Milena Laure-Kamionowska, Fowzan S Alkuraya, Hanah Akleh, Valentina Stanley, Damir Musaev, Joseph G Gleeson, Maha S Zaki, Nicola Brunetti-Pierri, Gerarda Cappuccio, Bella Davidov, Lina Basel-Salmon, Lily Bazak, Noa Ruhrman Shahar, Aida Bertoli-Avella, Ghayda M Mirzaa, William B Dobyns, Tommaso Pippucci, Maarten Fornerod, Grazia M S Mancin. Loss of SMPD4 Causes a Developmental Disorder Characterized by Microcephaly and Congenital Arthrogryposis. American journal of human genetics. vol 105. issue 4. 2020-04-02. PMID:31495489. |
children from 12 unrelated families presented with microcephaly, simplified gyral pattern of the cortex, hypomyelination, cerebellar hypoplasia, congenital arthrogryposis, and early fetal/postnatal demise. |
2020-04-02 |
2023-08-13 |
human |
| Boris Fichtman, Tamar Harel, Nitzan Biran, Fadia Zagairy, Carolyn D Applegate, Yuval Salzberg, Tal Gilboa, Somaya Salah, Avraham Shaag, Natalia Simanovsky, Houriya Ayoubieh, Nara Sobreira, Giuseppe Punzi, Ciro Leonardo Pierri, Ada Hamosh, Orly Elpeleg, Amnon Harel, Simon Edvardso. Pathogenic Variants in NUP214 Cause "Plugged" Nuclear Pore Channels and Acute Febrile Encephalopathy. American journal of human genetics. vol 105. issue 1. 2020-03-11. PMID:31178128. |
clinical symptoms include neurodevelopmental regression, seizures, myoclonic jerks, progressive microcephaly, and cerebellar atrophy. |
2020-03-11 |
2023-08-13 |
human |
| Leslie E W LaConte, Vrushali Chavan, Stephanie DeLuca, Karol Rubin, Jessica Malc, Susan Berry, C Gail Summers, Konark Mukherje. An N-terminal heterozygous missense CASK mutation is associated with microcephaly and bilateral retinal dystrophy plus optic nerve atrophy. American journal of medical genetics. Part A. vol 179. issue 1. 2020-02-12. PMID:30549415. |
heterozygous loss-of-function mutations in the x-linked gene cask are associated with mental retardation and microcephaly with pontine and cerebellar hypoplasia (micpch) and ophthalmological disorders including optic nerve atrophy (ona) and optic nerve hypoplasia (onh). |
2020-02-12 |
2023-08-13 |
Not clear |
| Masoumeh Hosseini, Zohreh Fattahi, Seyedeh Sedigheh Abedini, Hao Hu, Hans-H Ropers, Vera M Kalscheuer, Hossein Najmabadi, Kimia Kahriz. GPR126: A novel candidate gene implicated in autosomal recessive intellectual disability. American journal of medical genetics. Part A. vol 179. issue 1. 2020-02-12. PMID:30549416. |
using whole exome sequencing, a homozygous missense variation (c.3264g>c, p.w1088c) in a plausible disease causing gene, gpr126, was identified in two patients presenting with profound id, severe speech impairment, microcephaly, seizures during infancy, and spasticity accompanied by cerebellar hypoplasia. |
2020-02-12 |
2023-08-13 |
Not clear |
| Annette Uwineza, Jean-Hubert Caberg, Janvier Hitayezu, Stephane Wenric, Leon Mutesa, Yoann Vial, Séverine Drunat, Sandrine Passemard, Alain Verloes, Vincent El Ghouzzi, Vincent Bour. VPS51 biallelic variants cause microcephaly with brain malformations: A confirmatory report. European journal of medical genetics. vol 62. issue 8. 2019-12-12. PMID:31207318. |
whole exome sequencing undertaken in two siblings with delayed psychomotor development, absent speech, severe intellectual disability and postnatal microcephaly, with brain malformations consisting of cerebellar atrophy in the eldest affected and hypoplastic corpus callosum in the younger sister; revealed a homozygous intragenic deletion in vps51, which encodes the vacuolar protein sorting-associated protein, one the four subunits of the golgi-associated retrograde protein (garp) and endosome-associated recycling protein (earp) complexes that promotes the fusion of endosome-derived vesicles with the trans-golgi network (garp) and recycling endosomes (earp). |
2019-12-12 |
2023-08-13 |
Not clear |
| V Won. Neurodegenerative diseases in children. Hong Kong medical journal = Xianggang yi xue za zhi. vol 3. issue 1. 2019-11-20. PMID:11847361. |
clinical clues suggestive of neurometabolic disorders include encephalopathic features such as microcephaly, macrocephaly, developmental regression, developmental arrest, change in sensorium, seizures, hypotonia, hypertonia, abnormal eye signs; also extrapyramidal or cerebellar signs and systemic features like abnormal respiration, hepatosplenomegaly, abnormal hair, liver dysfunction, renal tubular dysfunction, cardiomyopathy, and feeding difficulties or growth problems. |
2019-11-20 |
2023-08-12 |
Not clear |