Did you mean: hallermann s syndrome
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Brain : a Journal of Neurology May 2023N-methyl-D-aspartate receptor (NMDAR) encephalitis is the most common subtype of autoimmune encephalitis characterized by a complex neuropsychiatric syndrome usually...
N-methyl-D-aspartate receptor (NMDAR) encephalitis is the most common subtype of autoimmune encephalitis characterized by a complex neuropsychiatric syndrome usually including memory impairment. Patients develop an intrathecal immune response against NMDARs with antibodies that presumably bind to the amino-terminal domain of the GluN1 subunit. The therapeutic response to immunotherapy is often delayed. Therefore, new therapeutic approaches for fast neutralization of NMDAR antibodies are needed. Here, we developed fusion constructs consisting of the Fc part of immunoglobulin G and the amino-terminal domains of either GluN1 or combinations of GluN1 with GluN2A or GluN2B. Surprisingly, both GluN1 and GluN2 subunits were required to generate high-affinity epitopes. The construct with both subunits efficiently prevented NMDAR binding of patient-derived monoclonal antibodies and of patient CSF containing high-titre NMDAR antibodies. Furthermore, it inhibited the internalization of NMDARs in rodent dissociated neurons and human induced pluripotent stem cell-derived neurons. Finally, the construct stabilized NMDAR currents recorded in rodent neurons and rescued memory defects in passive-transfer mouse models using intrahippocampal injections. Our results demonstrate that both GluN1 and GluN2B subunits contribute to the main immunogenic region of the NMDAR and provide a promising strategy for fast and specific treatment of NMDAR encephalitis, which could complement immunotherapy.
Topics: Mice; Animals; Humans; Receptors, N-Methyl-D-Aspartate; Induced Pluripotent Stem Cells; Encephalitis; Autoantibodies; Hashimoto Disease
PubMed: 36866449
DOI: 10.1093/brain/awac497 -
HCA Healthcare Journal of Medicine 2022Description Hallermann-Streiff syndrome is a rare genetic congenital disorder, with fewer than 200 cases reported to date, that is characterized by brachycephaly with...
Description Hallermann-Streiff syndrome is a rare genetic congenital disorder, with fewer than 200 cases reported to date, that is characterized by brachycephaly with frontal bossing, micrognathia, a "bird-like" beaked nose, microphthalmia with congenital cataracts, dental abnormalities, hypotrichosis, skin atrophy, and short stature. There is limited data on psychosis in individuals with Hallermann-Streiff syndrome; the information available depicts mania rather than psychosis. This case report reviews the presentation and treatment of psychosis in a 32-year-old male with Hallermann-Streiff syndrome who was involuntarily admitted to an inpatient psychiatric unit for persecutory delusions and hallucinations. The patient's psychosis responded well to risperidone with a resolution of psychosis and suicidal ideation in 6 days. Psychosis in individuals with Hallermann-Streiff syndrome appears to respond to a high-potency second-generation antipsychotic. Given this patient's early onset of psychosis and limited social/occupational impairment, it is unclear if psychosis is a component of Hallermann-Streiff syndrome or if he has comorbid schizophrenia or schizoaffective disorder, bipolar type.
PubMed: 37426871
DOI: 10.36518/2689-0216.1311 -
Nature Communications May 2021Members of the chromodomain-helicase-DNA binding (CHD) protein family are chromatin remodelers implicated in human pathologies, with CHD6 being one of its least studied...
Members of the chromodomain-helicase-DNA binding (CHD) protein family are chromatin remodelers implicated in human pathologies, with CHD6 being one of its least studied members. We discovered a de novo CHD6 missense mutation in a patient clinically presenting the rare Hallermann-Streiff syndrome (HSS). We used genome editing to generate isogenic iPSC lines and model HSS in relevant cell types. By combining genomics with functional in vivo and in vitro assays, we show that CHD6 binds a cohort of autophagy and stress response genes across cell types. The HSS mutation affects CHD6 protein folding and impairs its ability to recruit co-remodelers in response to DNA damage or autophagy stimulation. This leads to accumulation of DNA damage burden and senescence-like phenotypes. We therefore uncovered a molecular mechanism explaining HSS onset via chromatin control of autophagic flux and genotoxic stress surveillance.
Topics: Autophagy; Chromatin; Chromatin Assembly and Disassembly; DNA Damage; DNA Helicases; DNA-Binding Proteins; Epigenomics; Gene Editing; Gene Expression; Hallermann's Syndrome; Humans; Mutation; Nerve Tissue Proteins; Phenotype
PubMed: 34021162
DOI: 10.1038/s41467-021-23327-1 -
Eye (London, England) Sep 2016PurposeHallermann-Streiff-Francois syndrome (HSS) is a rare genetic disorder characterised by ocular and craniofacial anomalies. The purpose of this report is to...
PurposeHallermann-Streiff-Francois syndrome (HSS) is a rare genetic disorder characterised by ocular and craniofacial anomalies. The purpose of this report is to highlight the ophthalmological features in four such patients and outcomes of cataract surgery.Patients and methodsRetrospective review of medical records of patients with cataract and/or microcornea due to HSS was done. Presenting features, ocular findings, ocular motility and visual outcomes were noted.ResultsWe identified four children with microcornea/cataract who had associated clinical features suggestive of HSS. Mean age at presentation was 25.5±27.8 months. Three children presented with poor vision in both eyes and one with strabismus. All patients had a microcornea and microphthalmos. Three patients had a membranous cataract. Horizontal corneal diameter ranged from 5.5 to 10.5 mm and axial length ranged from 12 to 18 mm. Three patients had associated strabismus. Three patients underwent lens extraction and two underwent strabismus surgery. Best corrected visual acuity (BCVA) improved from fixing, following light to a median post-operative BCVA of 20/380. One eye developed retinal detachment.ConclusionChildren with HSS present with membranous cataracts, microcornea and microphthalmos and present surgical challenges. Though the patients were mostly left aphakic, all showed moderate visual improvement.
Topics: Cataract; Cataract Extraction; Child, Preschool; Corneal Diseases; Female; Hallermann's Syndrome; Humans; Infant; Male; Microphthalmos; Retrospective Studies; Strabismus; Vision Disorders; Visual Acuity
PubMed: 27472202
DOI: 10.1038/eye.2016.161 -
Medicine Dec 2019Hallermann-Streiff syndrome (HSS) is a rare congenital disorder characterized by craniofacial malformations, sparse hair, degenerative skin changes, eye abnormalities,...
RATIONALE
Hallermann-Streiff syndrome (HSS) is a rare congenital disorder characterized by craniofacial malformations, sparse hair, degenerative skin changes, eye abnormalities, dental defects, and proportionate short stature.
PATIENT CONCERNS
A 24-year-old Chinese male patient presented to the ophthalmologist because of his sore eye and blurred vision.
DIAGNOSES
The final diagnosis of presented case is HSS having the main features of the syndrome, however, associated with uncommon ocular features, ultrasound biomicroscopy (UBM) and optical coherence tomography (OCT)changes, including aphakia, glaucoma, long eye axes, cilliary abnormalities, and chorioretinal atrophy.
INTERVENTIONS
Antiglaucomatous medical therapy failed to reduce the pressure in the right eye and a cyclocryotherapy was carried out. The antiglaucoma eye drops was continued in the left eye.
OUTCOMES
The intraocular pressure has been reduced to the normal range, but the vision has not improved.
LESSONS
In the diagnosis of HSS, we should not ignore the extraordinary information especially uncommon ophthalmic features, UBM and OCT changes. We highlight the necessity of a multidisciplinary approach for accurate diagnosis and appropriate management.
Topics: Diagnosis, Differential; Eye Abnormalities; Hallermann's Syndrome; Humans; Male; Microscopy, Acoustic; Tomography, Optical Coherence; Young Adult
PubMed: 31804366
DOI: 10.1097/MD.0000000000018272 -
Korean Journal of Ophthalmology : KJO Feb 2016
Topics: Adult; Cataract Extraction; Corneal Edema; Corneal Stroma; Epithelium, Corneal; Female; Hallermann's Syndrome; Humans; Lens Implantation, Intraocular
PubMed: 26865807
DOI: 10.3341/kjo.2016.30.1.76