| Publication |
Sentence |
Publish Date |
Extraction Date |
Species |
| Hadas Miremberg, Roee Birnbaum, Dorin Trigubov, Adi Botvinik, Yuval Yaron, Adi Mory, Gustavo Malinger, Karina Krajden Harat. Prenatal Diagnosis of a KIDINS220 De Novo Heterozygous Variant in a Fetus With a Complex CNS Anomaly. Prenatal diagnosis. 2024-10-05. PMID:39367534. |
heterozygous variants in kidins220 have been linked to spastic paraplegia, intellectual disability, nystagmus, and obesity syndrome (sino). |
2024-10-05 |
2024-10-07 |
Not clear |
| Melinda Moseley-Alldredge, Caroline Aragón, Marcus Vargus, Divya Alley, Nirali Somia, Lihsia Che. The L1CAM SAX-7 is an antagonistic modulator of Erk Signaling. bioRxiv : the preprint server for biology. 2024-09-30. PMID:39345534. |
in addition to being associated with the autism and schizophrenia spectrum disorders, mutations in the l1cam family of genes also underlie distinct developmental syndromes with neurological conditions, such as intellectual disability, spastic paraplegia, hypotonia and congenital hydrocephalus. |
2024-09-30 |
2024-10-02 |
Not clear |
| Morten Alstrup, Fabrizia Cesca, Alicja Krawczun-Rygmaczewska, Celia López-Menéndez, Julia Pose-Utrilla, Filip Christian Castberg, Mia Ortved Bjerager, Candice Finnila, Michael C Kruer, Somayeh Bakhtiari, Sergio Padilla-Lopez, Linda Manwaring, Boris Keren, Alexandra Afenjar, Daniele Galatolo, Roberta Scalise, Fillippo M Santorelli, Amelle Shillington, Myriam Vezain, Jelena Martinovic, Cathy Stevens, Vykuntaraju K Gowda, Varunvenkat M Srinivasan, Isabelle Thiffault, Tomi Pastinen, Kristin Baranano, Angela Lee, Jorge Granadillo, Megan R Glassford, Catherine E Keegan, Nicole Matthews, Pascale Saugier-Veber, Teresa Iglesias, Elsebet Østergaar. Refining the phenotype of SINO syndrome: A comprehensive cohort report of 14 novel cases. Genetics in medicine : official journal of the American College of Medical Genetics. 2024-07-21. PMID:39033379. |
sino syndrome (spastic paraplegia, intellectual disability, nystagmus and obesity) is a rare autosomal dominant condition caused by heterozygous variants in kidins220. |
2024-07-21 |
2024-07-24 |
Not clear |
| Dévina C Ung, Nicolas Pietrancosta, Elena Baz Badillo, Brigitt Raux, Daniel Tapken, Andjela Zlatanovic, Adrien Doridant, Ben Pode-Shakked, Annick Raas-Rothschild, Orly Elpeleg, Bassam Abu-Libdeh, Nasrin Hamed, Marie-Amélie Papon, Sylviane Marouillat, Rose-Anne Thépault, Giovanni Stevanin, Jonathan Elegheert, Mathieu Letellier, Michael Hollmann, Bertrand Lambolez, Ludovic Tricoire, Annick Toutain, Régine Hepp, Frédéric Laumonnie. GRID1/GluD1 homozygous variants linked to intellectual disability and spastic paraplegia impair mGlu1/5 receptor signaling and excitatory synapses. Molecular psychiatry. 2024-02-28. PMID:38418578. |
we report homozygous missense grid1 variants in five individuals from two unrelated consanguineous families presenting with intellectual disability and spastic paraplegia, without (p.thr752met) or with (p.arg161his) diagnosis of glaucoma, a threefold phenotypic association whose genetic bases had not been elucidated previously. |
2024-02-28 |
2024-03-02 |
Not clear |
| Aurélie Becker, Charlotte Felici, Laëtitia Lambert, Anne de Saint Martin, Marie-Thérèse Abi-Warde, Elise Schaefer, Christian Zix, Mina Zamani, Saeid Sadeghian, Jawaher Zeighami, Tahereh Seifi, Reza Azizimalamiri, Gholamreza Shariati, Hamid Galehdari, Mareike Selig, Can Ding, Sarah Duerinckx, Isabelle Pirson, Marc Abramowicz, Guillemette Clément, Bruno Leheup, Philippe Jonveaux, Geneviève Lefort, Myriam Bronner, Mathilde Renaud, Céline Bonne. Putative founder effect of Arg338* AP4M1 (SPG50) variant causing severe intellectual disability, epilepsy and spastic paraplegia: report of three families. Clinical genetics. 2022-11-13. PMID:36371792. |
putative founder effect of arg338* ap4m1 (spg50) variant causing severe intellectual disability, epilepsy and spastic paraplegia: report of three families. |
2022-11-13 |
2023-08-14 |
Not clear |
| Fernando Freua, Mariana Espíndola de Castro Almeida, Paulo Ribeiro Nóbrega, Anderson Rodrigues Brandáo de Paiva, Bruno Della-Ripa, Paulina Cunha, Lúcia Inês Macedo-Souza, Clarissa Bueno, David S Lynch, Henry Houlden, Leandro Tavares Lucato, Fernando Ko. Arginase 1 deficiency presenting as complicated hereditary spastic paraplegia. Cold Spring Harbor molecular case studies. 2022-09-30. PMID:36180229. |
argininemia or arginase deficiency is a metabolic disorder caused by pathogenic variants in arg1 and consists of a variable association of progressive spastic paraplegia, intellectual disability, and seizures. |
2022-09-30 |
2023-08-14 |
Not clear |
| Daniel G Calame, Isabella Herman, Reza Maroofian, Aren E Marshall, Karina Carvalho Donis, Jawid M Fatih, Tadahiro Mitani, Haowei Du, Christopher M Grochowski, Sergio Sousa, Charul Gijavanekar, Somayeh Bakhtiari, Yoko A Ito, Clarissa Rocca, Jill V Hunter, V Reid Sutton, Lisa T Emrick, Kym M Boycott, Alexander Lossos, Yakov Fellig, Eugenia Prus, Yosef Kalish, Vardiella Meiner, Manon Suerink, Claudia Ruivenkamp, Kayla Muirhead, Nebal W Saadi, Maha S Zaki, Arjan Bouman, Tahsin Stefan Barakat, David L Skidmore, Matthew Osmond, Thiago Oliveira Silva, David Murphy, Ehsan Ghayoor Karimiani, Yalda Jamshidi, Asaad Ghanim Jaddoa, Homa Tajsharghi, Sheng Chih Jin, Mohammad Reza Abbaszadegan, Reza Ebrahimzadeh-Vesal, Susan Hosseini, Shahryar Alavi, Amir Bahreini, Elahe Zarean, Mohammad Mehdi Salehi, Nouriya Abbas Al-Sannaa, Giovanni Zifarelli, Peter Bauer, Simon Robson, Zeynep Coban-Akdemir, Lorena Travaglini, Francesco Nicita, Shalini N Jhangiani, Richard A Gibbs, Jennifer E Posey, Michael C Kruer, Kristin D Kernohan, Jonas A Morales Saute, Henry Houlden, Adeline Vanderver, Sarah H Elsea, Davut Pehlivan, Dana Marafi, James R Lupsk. Biallelic variants in the ectonucleotidase ENTPD1 cause a complex neurodevelopmental disorder with intellectual disability, distinct white matter abnormalities, and spastic paraplegia. Annals of neurology. 2022-04-26. PMID:35471564. |
biallelic variants in the ectonucleotidase entpd1 cause a complex neurodevelopmental disorder with intellectual disability, distinct white matter abnormalities, and spastic paraplegia. |
2022-04-26 |
2023-08-13 |
human |
| Ximena Montenegro-Garreaud, Adam W Hansen, Michael M Khayat, Varuna Chander, Christopher M Grochowski, Yunyun Jiang, He Li, Tadahiro Mitani, Elena Kessler, Joy Jayaseelan, Hua Shen, Alper Gezdirici, Davut Pehlivan, Qingchang Meng, Jill A Rosenfeld, Shalini N Jhangiani, Suneeta Madan-Khetarpal, Daryl A Scott, Hugo Abarca-Barriga, Milana Trubnykova, Marie-Claude Gingras, Donna M Muzny, Jennifer E Posey, Pengfei Liu, James R Lupski, Richard A Gibb. Phenotypic expansion in KIF1A-related dominant disorders: A description of novel variants and review of published cases. Human mutation. vol 41. issue 12. 2021-11-25. PMID:32935419. |
kif1a dysfunction has been associated with several mendelian disorders with a spectrum of overlapping phenotypes, ranging from spastic paraplegia to intellectual disability. |
2021-11-25 |
2023-08-13 |
Not clear |
| Gabrielle Lemire, Yoko A Ito, Aren E Marshall, Nicolas Chrestian, Valentina Stanley, Lauren Brady, Mark Tarnopolsky, Cynthia J Curry, Taila Hartley, Wendy Mears, Alexa Derksen, Nadie Rioux, Nataly Laflamme, Harrol T Hutchison, Lynn S Pais, Maha S Zaki, Tipu Sultan, Adrie D Dane, Joseph G Gleeson, Frédéric M Vaz, Kristin D Kernohan, Geneviève Bernard, Kym M Boycot. ABHD16A deficiency causes a complicated form of hereditary spastic paraplegia associated with intellectual disability and cerebral anomalies. American journal of human genetics. vol 108. issue 10. 2021-11-15. PMID:34587489. |
abhd16a deficiency causes a complicated form of hereditary spastic paraplegia associated with intellectual disability and cerebral anomalies. |
2021-11-15 |
2023-08-13 |
human |
| Shinichiro Mori, Hiroyuki Honda, Hideomi Hamasaki, Naokazu Sasagasako, Satoshi O Suzuki, Hirokazu Furuya, Takayuki Taniwaki, Toru Iwak. Transactivation response DNA-binding protein of 43 kDa proteinopathy and lysosomal abnormalities in spastic paraplegia type 11. Neuropathology : official journal of the Japanese Society of Neuropathology. vol 41. issue 4. 2021-08-03. PMID:34031922. |
spg11 patients show spastic paraplegia, intellectual disability, dementia, and parkinsonism. |
2021-08-03 |
2023-08-13 |
Not clear |
| Ananth Prasad Burada, Rajesh Vinnakota, Janesh Kuma. The architecture of GluD2 ionotropic delta glutamate receptor elucidated by cryo-EM. Journal of structural biology. vol 211. issue 2. 2021-08-02. PMID:32512155. |
these receptors play key roles in synaptogenesis and synaptic plasticity and are associated with multiple neuronal disorders like schizophrenia, autism spectrum disorder, cerebellar ataxia, intellectual disability, paraplegia, retinal dystrophy, etc. |
2021-08-02 |
2023-08-13 |
rat |
| Sara H El-Dessouky, Mahmoud Y Issa, Mona M Aboulghar, Hassan M Gaafar, Ahmed Ezz Elarab, Mohamed I Ateya, Heba H Omar, Christian Beetz, Maha Saad Zak. Prenatal delineation of a distinct lethal fetal syndrome caused by a homozygous truncating KIDINS220 variant. American journal of medical genetics. Part A. vol 182. issue 12. 2021-06-24. PMID:32909676. |
kidins220 heterozygous truncating variants that affect the protein's c-terminus have been associated with a phenotype, so far described only in few unrelated children, including spastic paraplegia, intellectual disability, nystagmus, and obesity. |
2021-06-24 |
2023-08-13 |
Not clear |
| Hadia Hijazi, Fernanda S Coelho, Claudia Gonzaga-Jauregui, Laura Bernardini, Soe S Mar, Melanie A Manning, Andrea Hanson-Kahn, SakkuBai Naidu, Siddharth Srivastava, Jennifer A Lee, Julie R Jones, Michael J Friez, Thomas Alberico, Barbara Torres, Ping Fang, Sau Wai Cheung, Xiaofei Song, Angelique Davis-Williams, Carly Jornlin, Patricia A Wight, Pankaj Patyal, Jennifer Taube, Andrea Poretti, Ken Inoue, Feng Zhang, Davut Pehlivan, Claudia M B Carvalho, Grace M Hobson, James R Lupsk. Xq22 deletions and correlation with distinct neurological disease traits in females: Further evidence for a contiguous gene syndrome. Human mutation. vol 41. issue 1. 2021-05-19. PMID:31448840. |
xq22 deletions that encompass plp1 (xq22-plp1-del) are notable for variable expressivity of neurological disease traits in females ranging from a mild late-onset form of spastic paraplegia type 2 (mim# 312920), sometimes associated with skewed x-inactivation, to an early-onset neurological disease trait (eondt) of severe developmental delay, intellectual disability, and behavioral abnormalities. |
2021-05-19 |
2023-08-13 |
Not clear |
| Ana Del Puerto, Julia Pose-Utrilla, Ana Simón-García, Celia López-Menéndez, Antonio J Jiménez, Eva Porlan, Luis S M Pajuelo, Guillermo Cano-García, Beatriz Martí-Prado, Álvaro Sebastián-Serrano, Marina P Sánchez-Carralero, Fabrizia Cesca, Giampietro Schiavo, Isidro Ferrer, Isabel Fariñas, Miguel R Campanero, Teresa Iglesia. Kidins220 deficiency causes ventriculomegaly via SNX27-retromer-dependent AQP4 degradation. Molecular psychiatry. 2021-05-18. PMID:34002021. |
kinase d interacting substrate of 220 kda (kidins220) gene has been recently associated with schizophrenia and with a novel syndrome characterized by spastic paraplegia, intellectual disability, nystagmus and obesity (sino syndrome), diseases frequently occurring with ventriculomegaly. |
2021-05-18 |
2023-08-13 |
mouse |
| Yasuko Odake, Kishin Koh, Yoshihisa Takiyama, Hiroyuki Ishiura, Shoji Tsuji, Masahito Yamada, Mitsuhiro Yoshit. Identification of a novel mutation in Neurology. Genetics. vol 6. issue 5. 2020-11-03. PMID:33134512. |
identification of a novel mutation in to establish molecular diagnosis for a family with a complicated form of autosomal recessive hereditary spastic paraplegia with intellectual disability, cognitive decline, psychosis, peripheral neuropathy, upward gaze palsy, and thin corpus callosum (tcc). |
2020-11-03 |
2023-08-13 |
Not clear |
| Masanori Kurihara, Hiroyuki Ishiura, Taro Bannai, Jun Mitsui, Jun Yoshimura, Shinichi Morishita, Toshihiro Hayashi, Jun Shimizu, Tatsushi Toda, Shoji Tsuj. A Novel de novo KIF1A Mutation in a Patient with Autism, Hyperactivity, Epilepsy, Sensory Disturbance, and Spastic Paraplegia. Internal medicine (Tokyo, Japan). vol 59. issue 6. 2020-09-23. PMID:31813911. |
heterozygous mutations in kif1a have been reported to cause syndromic intellectual disability or pure spastic paraplegia. |
2020-09-23 |
2023-08-13 |
Not clear |
| Agathe Roubertie, Majida Charif, Pierre Meyer, Gael Manes, Isabelle Meunier, Guillaume Taieb, Raul Junta Morales, Agnès Guichet, Cecile Delettre, Emmanuelle Sarzi, Nicolas Leboucq, François Rivier, Guy Lenaer. Hereditary spastic paraplegia and prominent sensorial involvement: think MAG mutations! Annals of clinical and translational neurology. vol 6. issue 8. 2020-05-29. PMID:31402626. |
we propose that complex hereditary spastic paraplegia, with axonal and demyelinating polyneuropathy, sensorial impairment and intellectual disability might suggest mag mutations. |
2020-05-29 |
2023-08-13 |
Not clear |
| Agathe Roubertie, Majida Charif, Pierre Meyer, Gael Manes, Isabelle Meunier, Guillaume Taieb, Raul Junta Morales, Agnès Guichet, Cecile Delettre, Emmanuelle Sarzi, Nicolas Leboucq, François Rivier, Guy Lenaer. Hereditary spastic paraplegia and prominent sensorial involvement: think MAG mutations! Annals of clinical and translational neurology. vol 6. issue 8. 2020-05-29. PMID:31402626. |
here, we report the first patient with two compound heterozygous novel mag mutations (p.a151v and p.s373r) and early developmental delay with a progressive complex phenotype characterized by spastic paraplegia, peripheral sensorimotor neuropathy, intellectual disability, and sensorial dysfunctions with severe optic atrophy and hearing involvement. |
2020-05-29 |
2023-08-13 |
Not clear |
| Zena Lam, Shadi Albaba, Ddd Study, Meena Balasubramania. Atypical, milder presentation in a child with CC2D2A and KIDINS220 variants. Clinical dysmorphology. vol 29. issue 1. 2020-04-16. PMID:31577543. |
the patient is much more mildly affected than those with joubert syndrome or spastic paraplegia, intellectual disability, nystagmus, and obesity, the conditions associated with cc2d2a and kidins220 respectively, and therefore, contributes to the phenotypic variability associated with the two conditions. |
2020-04-16 |
2023-08-13 |
Not clear |
| H Hengel, R Keimer, W Deigendesch, A Rieß, H Marzouqa, J Zaidan, P Bauer, L Schöl. GPT2 mutations cause developmental encephalopathy with microcephaly and features of complicated hereditary spastic paraplegia. Clinical genetics. vol 94. issue 3-4. 2019-10-28. PMID:29882329. |
by compiling clinical information of these individuals and previously described gpt2 patients a recognizable neurodevelopmental and potentially neurodegenerative phenotype can be assigned consisting of intellectual disability, pyramidal tract affection with spastic paraplegia, microcephaly and frequently epilepsy. |
2019-10-28 |
2023-08-13 |
Not clear |