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Article ; Online: Genetic Primary Microcephalies: When Centrosome Dysfunction Dictates Brain and Body Size.

Farcy, Sarah / Hachour, Hassina / Bahi-Buisson, Nadia / Passemard, Sandrine

2023 Volume 12, Issue 13

Abstract: Primary microcephalies (PMs) are defects in brain growth that are detectable at or before birth and are responsible for neurodevelopmental disorders. Most are caused by biallelic or, more rarely, dominant mutations in one of the likely hundreds of genes ... ...

Abstract	Primary microcephalies (PMs) are defects in brain growth that are detectable at or before birth and are responsible for neurodevelopmental disorders. Most are caused by biallelic or, more rarely, dominant mutations in one of the likely hundreds of genes encoding PM proteins, i.e., ubiquitous centrosome or microtubule-associated proteins required for the division of neural progenitor cells in the embryonic brain. Here, we provide an overview of the different types of PMs, i.e., isolated PMs with or without malformations of cortical development and PMs associated with short stature (microcephalic dwarfism) or sensorineural disorders. We present an overview of the genetic, developmental, neurological, and cognitive aspects characterizing the most representative PMs. The analysis of phenotypic similarities and differences among patients has led scientists to elucidate the roles of these PM proteins in humans. Phenotypic similarities indicate possible redundant functions of a few of these proteins, such as ASPM and WDR62, which play roles only in determining brain size and structure. However, the protein pericentrin (PCNT) is equally required for determining brain and body size. Other PM proteins perform both functions, albeit to different degrees. Finally, by comparing phenotypes, we considered the interrelationships among these proteins.
MeSH term(s)	Humans ; Microcephaly/genetics ; Microcephaly/metabolism ; Centrosome/metabolism ; Brain/metabolism ; Brain Diseases/metabolism ; Body Size ; Nerve Tissue Proteins/metabolism ; Cell Cycle Proteins/genetics ; Cell Cycle Proteins/metabolism
Chemical Substances	WDR62 protein, human ; Nerve Tissue Proteins ; Cell Cycle Proteins
Language	English
Publishing date	2023-07-07
Publishing country	Switzerland
Document type	Journal Article ; Review ; Research Support, Non-U.S. Gov't
ZDB-ID	2661518-6
ISSN	2073-4409 ; 2073-4409
ISSN (online)	2073-4409
ISSN	2073-4409
DOI	10.3390/cells12131807
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Article ; Online: Genetic Primary Microcephalies

Sarah Farcy / Hassina Hachour / Nadia Bahi-Buisson / Sandrine Passemard

Cells, Vol 12, Iss 1807, p

When Centrosome Dysfunction Dictates Brain and Body Size

2023 Volume 1807

Abstract	Primary microcephalies (PMs) are defects in brain growth that are detectable at or before birth and are responsible for neurodevelopmental disorders. Most are caused by biallelic or, more rarely, dominant mutations in one of the likely hundreds of genes encoding PM proteins, i.e., ubiquitous centrosome or microtubule-associated proteins required for the division of neural progenitor cells in the embryonic brain. Here, we provide an overview of the different types of PMs, i.e., isolated PMs with or without malformations of cortical development and PMs associated with short stature (microcephalic dwarfism) or sensorineural disorders. We present an overview of the genetic, developmental, neurological, and cognitive aspects characterizing the most representative PMs. The analysis of phenotypic similarities and differences among patients has led scientists to elucidate the roles of these PM proteins in humans. Phenotypic similarities indicate possible redundant functions of a few of these proteins, such as ASPM and WDR62, which play roles only in determining brain size and structure. However, the protein pericentrin (PCNT) is equally required for determining brain and body size. Other PM proteins perform both functions, albeit to different degrees. Finally, by comparing phenotypes, we considered the interrelationships among these proteins.
Keywords	microcephalic dwarfism ; centrosome ; primary microcephalies ; MCPH ; brain development disorders ; neural progenitors division ; Biology (General) ; QH301-705.5
Subject code	616
Language	English
Publishing date	2023-07-01T00:00:00Z
Publisher	MDPI AG
Document type	Article ; Online
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Article ; Online: Endoplasmic reticulum and Golgi stress in microcephaly.

Passemard, Sandrine / Perez, Franck / Gressens, Pierre / El Ghouzzi, Vincent

Cell stress

2019 Volume 3, Issue 12, Page(s) 369–384

Abstract: Microcephaly is a neurodevelopmental condition characterized by a small brain size associated with intellectual deficiency in most cases and is one of the most frequent clinical sign encountered in neurodevelopmental disorders. It can result from a wide ... ...

Abstract	Microcephaly is a neurodevelopmental condition characterized by a small brain size associated with intellectual deficiency in most cases and is one of the most frequent clinical sign encountered in neurodevelopmental disorders. It can result from a wide range of environmental insults occurring during pregnancy or postnatally, as well as from various genetic causes and represents a highly heterogeneous condition. However, several lines of evidence highlight a compromised mode of division of the cortical precursor cells during neurogenesis, affecting neural commitment or survival as one of the common mechanisms leading to a limited production of neurons and associated with the most severe forms of congenital microcephaly. In this context, the emergence of the endoplasmic reticulum (ER) and the Golgi apparatus as key guardians of cellular homeostasis, especially through the regulation of proteostasis, has raised the hypothesis that pathological ER and/or Golgi stress could contribute significantly to cortical impairments eliciting microcephaly. In this review, we discuss recent findings implicating ER and Golgi stress responses in early brain development and provide an overview of microcephaly-associated genes involved in these pathways.
Language	English
Publishing date	2019-10-30
Publishing country	Austria
Document type	Journal Article ; Review
ISSN	2523-0204
ISSN (online)	2523-0204
DOI	10.15698/cst2019.12.206
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Article ; Online: Endoplasmic reticulum and Golgi stress in microcephaly

Sandrine Passemard / Franck Perez / Pierre Gressens / Vincent El Ghouzzi

Cell Stress, Vol 3, Iss 12, Pp 369-

2019 Volume 384

Abstract	Microcephaly is a neurodevelopmental condition characterized by a small brain size associated with intellectual deficiency in most cases and is one of the most frequent clinical sign encountered in neurodevelopmental disorders. It can result from a wide range of environmental insults occurring during pregnancy or postnatally, as well as from various genetic causes and represents a highly heterogeneous condition. However, several lines of evidence highlight a compromised mode of division of the cortical precursor cells during neurogenesis, affecting neural commitment or survival as one of the common mechanisms leading to a limited production of neurons and associated with the most severe forms of congenital microcephaly. In this context, the emergence of the endoplasmic reticulum (ER) and the Golgi apparatus as key guardians of cellular homeostasis, especially through the regulation of proteostasis, has raised the hypothesis that pathological ER and/or Golgi stress could contribute significantly to cortical impairments eliciting microcephaly. In this review, we discuss recent findings implicating ER and Golgi stress responses in early brain development and provide an overview of microcephaly-associated genes involved in these pathways.
Keywords	golgi apparatus ; endoplasmic reticulum ; stress ; upr ; corticogenesis ; primary microcephaly ; golgipathies ; Medicine ; R ; Biology (General) ; QH301-705.5
Subject code	571
Language	English
Publishing date	2019-10-01T00:00:00Z
Publisher	Shared Science Publishers OG
Document type	Article ; Online
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Article ; Online: Golgipathies in Neurodevelopment: A New View of Old Defects.

Rasika, Sowmyalakshmi / Passemard, Sandrine / Verloes, Alain / Gressens, Pierre / El Ghouzzi, Vincent

Developmental neuroscience

2019 Volume 40, Issue 5-6, Page(s) 396–416

Abstract: The Golgi apparatus (GA) is involved in a whole spectrum of activities, from lipid biosynthesis and membrane secretion to the posttranslational processing and trafficking of most proteins, the control of mitosis, cell polarity, migration and ... ...

Abstract	The Golgi apparatus (GA) is involved in a whole spectrum of activities, from lipid biosynthesis and membrane secretion to the posttranslational processing and trafficking of most proteins, the control of mitosis, cell polarity, migration and morphogenesis, and diverse processes such as apoptosis, autophagy, and the stress response. In keeping with its versatility, mutations in GA proteins lead to a number of different disorders, including syndromes with multisystem involvement. Intriguingly, however, > 40% of the GA-related genes known to be associated with disease affect the central or peripheral nervous system, highlighting the critical importance of the GA for neural function. We have previously proposed the term "Golgipathies" in relation to a group of disorders in which mutations in GA proteins or their molecular partners lead to consequences for brain development, in particular postnatal-onset microcephaly (POM), white-matter defects, and intellectual disability (ID). Here, taking into account the broader role of the GA in the nervous system, we refine and enlarge this emerging concept to include other disorders whose symptoms may be indicative of altered neurodevelopmental processes, from neurogenesis to neuronal migration and the secretory function critical for the maturation of postmitotic neurons and myelination.
Language	English
Publishing date	2019-03-15
Publishing country	Switzerland
Document type	Journal Article ; Review
ZDB-ID	556887-0
ISSN	1421-9859 ; 0378-5866
ISSN (online)	1421-9859
ISSN	0378-5866
DOI	10.1159/000497035
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Article ; Online: Novel trehalose-based excipients for stabilizing nebulized anti-SARS-CoV-2 antibody.

Noverraz, François / Robin, Baptiste / Passemard, Solène / Fauvel, Bénédicte / Presumey, Jessy / Rigal, Emilie / Cookson, Alan / Chopineau, Joël / Martineau, Pierre / Villalba, Martin / Jorgensen, Christian / Aubert-Pouëssel, Anne / Morille, Marie / Gerber-Lemaire, Sandrine

International journal of pharmaceutics

2022 Volume 630, Page(s) 122463

Abstract: COVID-19 is caused by the infection of the lungs by SARS-CoV-2. Monoclonal antibodies, such as sotrovimab, showed great efficiency in neutralizing the virus before its internalization by lung epithelial cells. However, parenteral routes are still the ... ...

Abstract	COVID-19 is caused by the infection of the lungs by SARS-CoV-2. Monoclonal antibodies, such as sotrovimab, showed great efficiency in neutralizing the virus before its internalization by lung epithelial cells. However, parenteral routes are still the preferred route of administration, even for local infections, which requires injection of high doses of antibody to reach efficacious concentrations in the lungs. Lung administration of antibodies would be more relevant requiring lower doses, thus reducing the costs and the side effects. But aerosolization of therapeutic proteins is very challenging, as the different processes available are harsh and trigger protein aggregation and conformational changes. This decreases the efficiency of the treatment, and can increase its immunogenicity. To address those issues, we developed a series of new excipients composed of a trehalose core, a succinyl side chain and a hydrophobic carbon chain (from 8 to 16 carbons). Succinylation increased the solubility of the excipients, allowing their use at relevant concentrations for protein stabilization. In particular, the excipient with 16 carbons (C
MeSH term(s)	Mice ; Animals ; Excipients/chemistry ; Trehalose/chemistry ; SARS-CoV-2 ; COVID-19 ; Antibodies, Viral
Chemical Substances	Excipients ; Trehalose (B8WCK70T7I) ; Antibodies, Viral
Language	English
Publishing date	2022-11-30
Publishing country	Netherlands
Document type	Journal Article
ZDB-ID	428962-6
ISSN	1873-3476 ; 0378-5173
ISSN (online)	1873-3476
ISSN	0378-5173
DOI	10.1016/j.ijpharm.2022.122463
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Article ; Online: Cerebral dural arteriovenous fistulas in patients with PTEN-related hamartoma tumor syndrome.

Gerasimenko, Anna / Mignot, Cyril / Naggara, Olivier / Coulet, Florence / Ekram, Samar / Heide, Solveig / Sorato, Clarisse / Mazowiecki, Maxime / Perrin, Laurence / Colas, Chrystelle / Cusin, Veronica / Caux, Frédéric / Dardenne, Antoine / El Chehadeh, Salima / Verloes, Alain / Maurey, Hélène / Afenjar, Alexandra / Petit, Florence / Barete, Stéphane /

Clinical genetics

2024

Abstract: Central nervous system (CNS) dural arteriovenous fistulas (DAVF) have been reported in PTEN-related hamartoma tumor syndrome (PHTS). However, PHTS-associated DAVF remain an underexplored field of the PHTS clinical landscape. Here, we studied cases with a ...

Abstract	Central nervous system (CNS) dural arteriovenous fistulas (DAVF) have been reported in PTEN-related hamartoma tumor syndrome (PHTS). However, PHTS-associated DAVF remain an underexplored field of the PHTS clinical landscape. Here, we studied cases with a PTEN pathogenic variant identified between 2007 and 2020 in our laboratory (n = 58), and for whom brain imaging was available. Two patients had DAVF (2/58, 3.4%), both presenting at advanced stages: a 34-year-old man with a left lateral sinus DAVF at immediate risk of hemorrhage, and a 21-year-old woman with acute intracranial hypertension due to a torcular DAVF. Interestingly, not all patients had 3D TOF/MRA, the optimal sequences to detect DAVF. Early diagnosis of DAVF can be lifesaving, and is easier to treat compared to developed, proliferative, or complex lesions. As a result, one should consider brain MRI with 3D TOF/MRA in PHTS patients at genetic diagnosis, with subsequent surveillance on a case-by-case basis.
Language	English
Publishing date	2024-02-29
Publishing country	Denmark
Document type	Journal Article
ZDB-ID	221209-2
ISSN	1399-0004 ; 0009-9163
ISSN (online)	1399-0004
ISSN	0009-9163
DOI	10.1111/cge.14515
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Article ; Online: STIL balancing primary microcephaly and cancer.

Patwardhan, Dhruti / Mani, Shyamala / Passemard, Sandrine / Gressens, Pierre / El Ghouzzi, Vincent

Cell death & disease

2018 Volume 9, Issue 2, Page(s) 65

Abstract: Cell division and differentiation are two fundamental physiological processes that need to be tightly balanced to achieve harmonious development of an organ or a tissue without jeopardizing its homeostasis. The role played by the centriolar protein STIL ... ...

Abstract	Cell division and differentiation are two fundamental physiological processes that need to be tightly balanced to achieve harmonious development of an organ or a tissue without jeopardizing its homeostasis. The role played by the centriolar protein STIL is highly illustrative of this balance at different stages of life as deregulation of the human STIL gene expression has been associated with either insufficient brain development (primary microcephaly) or cancer, two conditions resulting from perturbations in cell cycle and chromosomal segregation. This review describes the recent advances on STIL functions in the control of centriole duplication and mitotic spindle integrity, and discusses how pathological perturbations of its finely tuned expression result in chromosomal instability in both embryonic and postnatal situations, highlighting the concept that common key factors are involved in developmental steps and tissue homeostasis.
MeSH term(s)	Humans ; Intracellular Signaling Peptides and Proteins/genetics ; Intracellular Signaling Peptides and Proteins/metabolism ; Microcephaly/genetics ; Neoplasms/genetics
Chemical Substances	Intracellular Signaling Peptides and Proteins ; STIL protein, human
Language	English
Publishing date	2018-01-19
Publishing country	England
Document type	Journal Article ; Research Support, Non-U.S. Gov't ; Review
ZDB-ID	2541626-1
ISSN	2041-4889 ; 2041-4889
ISSN (online)	2041-4889
ISSN	2041-4889
DOI	10.1038/s41419-017-0101-9
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Article ; Online: Covid-19 crisis impact on the next generation of physicians: a survey of 800 medical students.

Passemard, Sandrine / Faye, Albert / Dubertret, Caroline / Peyre, Hugo / Vorms, Camille / Boimare, Victor / Auvin, Stéphane / Flamant, Martin / Ruszniewski, Philippe / Ricard, Jean-Damien

BMC medical education

2021 Volume 21, Issue 1, Page(s) 529

Abstract: Background: Many initiatives have emerged worldwide to handle the surge of hospitalizations during the SARS-CoV-2 pandemic. In France, the University of Paris North called on its medical students, whose status makes them integral members of the ... ...

Abstract	Background: Many initiatives have emerged worldwide to handle the surge of hospitalizations during the SARS-CoV-2 pandemic. In France, the University of Paris North called on its medical students, whose status makes them integral members of the healthcare staff, to volunteer in their capacity of medical students and/or as nurses/nursing aids in understaffed intensive care units and other Covid-19 services. We attempted to evaluate their commitment, whether the pandemic affected their certainty for the medical profession and career choices, and how they scored their sadness and anxiety levels. Methods: The University of Paris North took a weekly official census of the involvement of 1205 4th-6th year medical students during the first lockdown in France. Six weeks after the lockdown began (May 4th), an e-questionnaire was sent to 2145 2nd-6th year medical students. The survey lasted 4 weeks and documented volunteering by medical students, the association between the pandemic and certainty for their profession, their choice of medical specialty and factors that influenced sadness and anxiety scores. Results: 82% of 4th-6th year medical students volunteered to continue their internship or be reassigned to COVID-19 units. Of 802 2nd-6th year students who completed the e-questionnaire, 742 (93%) volunteered in Covid-19 units, of which half acted as nurses. This engagement reinforced the commitment of 92% of volunteers to become physicians. However, at the peak of the outbreak, 17% had doubts about their ability to be physicians, while 12% reconsidered their choice of future specialty. Finally, 38% of students reported a score of 7/10 or more on the sadness scale, and 43% a score of 7/10 or more for anxiety. Neither study year nor service influenced sadness or anxiety scores. However, gender influenced both, with women scoring significantly higher than men (p < 0.0001). Conclusion: Medical students of the University of Paris North who made an early and unconditional commitment to help hospital staff handle the pandemic constituted a powerful healthcare reserve force during the crisis. Although the vast majority remained convinced that they want to become physicians, this experience came at a significant psychological cost, especially for women. Alleviating this cost would improve future crisis responses.
MeSH term(s)	COVID-19 ; Communicable Disease Control ; Female ; Humans ; Male ; Physicians ; SARS-CoV-2 ; Students, Medical ; Surveys and Questionnaires
Language	English
Publishing date	2021-10-13
Publishing country	England
Document type	Journal Article
ZDB-ID	2044473-4
ISSN	1472-6920 ; 1472-6920
ISSN (online)	1472-6920
ISSN	1472-6920
DOI	10.1186/s12909-021-02955-7
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Article ; Online: Neurological outcome in WDR62 primary microcephaly.

Ruaud, Lyse / Drunat, Séverine / Elmaleh-Bergès, Monique / Ernault, Anais / Guilmin Crepon, Sophie / El Ghouzzi, Vincent / Auvin, Stéphane / Verloes, Alain / Passemard, Sandrine

Developmental medicine and child neurology

2021 Volume 64, Issue 4, Page(s) 509–517

Abstract: Aim: To characterize the cortical structure, developmental, and cognitive profiles of patients with WD repeat domain 62 (WDR62)-related primary microcephaly.: Method: In this observational study, we describe the developmental, neurological, cognitive, ...

Abstract	Aim: To characterize the cortical structure, developmental, and cognitive profiles of patients with WD repeat domain 62 (WDR62)-related primary microcephaly. Method: In this observational study, we describe the developmental, neurological, cognitive, and brain imaging characteristics of 17 patients (six males, 11 females; mean age 12y 3mo standard deviation [SD] 5y 8mo, range 5y-24y 6mo) and identify 14 new variants of WDR62. We similarly analyse the phenotypes and genotypes of the 59 previously reported families. Results: Brain malformations, including pachygyria, neuronal heterotopia, schizencephaly, and microlissencephaly, were present in 11 out of 15 patients. The mean full-scale IQ of the 11 assessed patients was 51.8 (standard deviation [SD] 12.6, range 40-70). Intellectual disability was severe in four patients, moderate in four, and mild in three. Scores on the Vineland Adaptive Behavior Scales obtained from 10 patients were low for communication and motor skills (mean 38.29, SD 7.74, and 37.71, SD 5.74 respectively). The socialization score was higher (mean 47.14, SD 12.39). We found a significant difference between scores for communication and daily living skills (mean 54.43, SD 11.6; p=0.001, one-way analysis of variance). One patient displayed progressive ataxia. Interpretation: WDR62-related cognitive consequences may be less severe than expected because 3 out of 11 of the assessed patients had only mild intellectual disability and relatively preserved abilities of autonomy in daily life. We identified progressive ataxia in the second decade of life in one patient, which should encourage clinicians to follow up patients in the long term.
MeSH term(s)	Adolescent ; Ataxia ; Cell Cycle Proteins/genetics ; Child ; Child, Preschool ; Female ; Humans ; Intellectual Disability/diagnosis ; Intellectual Disability/genetics ; Male ; Microcephaly/diagnosis ; Microcephaly/genetics ; Nerve Tissue Proteins/genetics ; Young Adult
Chemical Substances	Cell Cycle Proteins ; Nerve Tissue Proteins ; WDR62 protein, human
Language	English
Publishing date	2021-09-25
Publishing country	England
Document type	Journal Article ; Observational Study ; Research Support, Non-U.S. Gov't
ZDB-ID	80369-8
ISSN	1469-8749 ; 0012-1622
ISSN (online)	1469-8749
ISSN	0012-1622
DOI	10.1111/dmcn.15060
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