CRE24-051: Rare Case of a Paraneoplastic Cerebellar Ataxia Secondary to a Retroperitoneal Neuroendocrine Tumor of Unknown Origin
J Natl Compr Canc Netw. 2024 Apr 5;22(2.5):CRE24-051. doi: 10.6004/jnccn.2023.7325.NO ABSTRACTPMID:38580271 | DOI:10.6004/jnccn.2023.7325 (Source: Journal of the National Comprehensive Cancer Network : JNCCN)
Source: Journal of the National Comprehensive Cancer Network : JNCCN - April 5, 2024 Category: Cancer & Oncology Authors: Khushboo Lakhatariya Fehmida Laxmidhar Mrunal Patel Source Type: research
Ataxia telangiectasia: a rare case report from Nepal
CONCLUSION: A-T is a complex disorder with no cure. Genetic counseling for parents is vital. Its poor prognosis due to infection susceptibility and cancer risk necessitates supportive care. Comprehensive management, including genetic counseling and careful surveillance, is imperative.PMID:38576962 | PMC:PMC10990361 | DOI:10.1097/MS9.0000000000001831 (Source: Annals of Medicine)
Source: Annals of Medicine - April 5, 2024 Category: Internal Medicine Authors: Apil Upreti Prince Mandal Amit Upreti Srijana Sapkota Sristi Acharya Avash Yogi Bikash Gauchan Suman Bhattarai Lekhjung Thapa Source Type: research
Gene editing as a therapeutic strategy for spinocerebellar ataxia type-3
Rev Neurol (Paris). 2024 Apr 4:S0035-3787(24)00478-8. doi: 10.1016/j.neurol.2024.03.003. Online ahead of print.ABSTRACTSpinocerebellar ataxia type 3 (SCA3), also known as Machado-Joseph disease, is a neurodegenerative disease caused by expanded polyglutamine repeats in exon 10 of the ataxin-3 gene, ATXN3. The accumulation of mutant ATXN3 protein leads to severe clinical manifestations and premature death. Clinically, SCA3 pathology is characterized by progressive ataxia leading to motor incoordination that may affect balance, gait and speech, and neuropathologically by a progressive degeneration of the spinal cord and cere...
Source: Revue Neurologique - April 5, 2024 Category: Neurology Authors: N D églon Source Type: research
Cancers, Vol. 16, Pages 1417: Safety of the Breast Cancer Adjuvant Radiotherapy in Ataxia & ndash;Telangiectasia Mutated Variant Carriers
Cancers, Vol. 16, Pages 1417: Safety of the Breast Cancer Adjuvant Radiotherapy in Ataxia–Telangiectasia Mutated Variant Carriers
Cancers doi: 10.3390/cancers16071417
Authors:
Rayan Bensenane
Arnaud Beddok
Fabienne Lesueur
Alain Fourquet
Mathilde Warcoin
Marine Le Mentec
Eve Cavaciuti
Dorothée Le Gal
Séverine Eon-Marchais
Nadine Andrieu
Dominique Stoppa-Lyonnet
Youlia Kirova
The Ataxia–Telangiectasia Mutated (ATM) gene is implicated in DNA double-strand break repair. Controversies in clinical radiosensitivity remain known for monoallelic carriers of the ATM pathogenic...
Source: Cancers - April 5, 2024 Category: Cancer & Oncology Authors: Rayan Bensenane Arnaud Beddok Fabienne Lesueur Alain Fourquet Mathilde Warcoin Marine Le Mentec Eve Cavaciuti Doroth ée Le Gal S éverine Eon-Marchais Nadine Andrieu Dominique Stoppa-Lyonnet Youlia Kirova Tags: Article Source Type: research
Creutzfeldt-Jakob disease in a man surviving COVID-19: disentangling a casual or causal association by neuropathology
DiscussionTo disentangle the link between COVID-19 infection and CJD, neuropathology is essential determining the extent of changes related to both conditions. In our patient, we did not find any specific abnormality related to COVID-19. Our conclusion is in line with the current worldwide epidemiological data that do not show an increase in CJD cases since the beginning of the COVID-19 pandemic. (Source: Neurological Sciences)
Source: Neurological Sciences - April 5, 2024 Category: Neurology Source Type: research
PGT-M for spinocerebellar ataxia type 1: development of a STR panel and a report of two clinical cases
ConclusionBirth of a healthy child after PGT for SCA1 was the first case of successful preimplantation prevention of SCA1 for the Yakut couple and the first case of successful PGT for SCA1 in Russia. (Source: Journal of Assisted Reproduction and Genetics)
Source: Journal of Assisted Reproduction and Genetics - April 5, 2024 Category: Reproduction Medicine Source Type: research
Memantine suppresses the excitotoxicity but fails to rescue the ataxic phenotype in SCA1 model mice
Biomed Pharmacother. 2024 Apr 3;174:116526. doi: 10.1016/j.biopha.2024.116526. Online ahead of print.ABSTRACTSpinocerebellar ataxia type 1 (SCA1) is a debilitating neurodegenerative disorder of the cerebellum and brainstem. Memantine has been proposed as a potential treatment for SCA1. It blocks N-methyl-D-aspartate (NMDA) receptors on neurons, reduces excitotoxicity and decreases neurodegeneration in Alzheimer models. However, in cerebellar neurodegenerative diseases, the potential value of memantine is still unclear. We investigated the effects of memantine on motor performance and synaptic transmission in the cerebellum...
Source: Biomedicine and pharmacotherapy = Biomedecine and pharmacotherapie - April 4, 2024 Category: Drugs & Pharmacology Authors: Olga S Belozor Alex Vasilev Alexandra G Mileiko Lyudmila D Mosina Ilya G Mikhailov Darius A Ox Elizaveta B Boitsova Andrey N Shuvaev Anja G Teschemacher Sergey Kasparov Anton N Shuvaev Source Type: research
Phenotypical, genotypical and pathological characterization of the moonwalker mouse, a model of ataxia
Neurobiol Dis. 2024 Apr 2:106492. doi: 10.1016/j.nbd.2024.106492. Online ahead of print.ABSTRACTWe performed a comprehensive study of the morphological, functional, and genetic features of moonwalker (MWK) mice, a mouse model of spinocerebellar ataxia caused by a gain of function of the TRPC3 channel. These mice show numerous behavioral symptoms including tremor, altered gait, circling behavior, impaired motor coordination, impaired motor learning and decreased limb strength. Cerebellar pathology is characterized by early and almost complete loss of unipolar brush cells as well as slowly progressive, moderate loss of Purki...
Source: Neurobiology of Disease - April 4, 2024 Category: Neurology Authors: Gabriella Sekerkov á S ümeyra Kiliç Yen-Hsin Cheng Natalie Fredrick Anne Osmani Haram Kim Puneet Opal Marco Martina Source Type: research
Memantine suppresses the excitotoxicity but fails to rescue the ataxic phenotype in SCA1 model mice
Biomed Pharmacother. 2024 Apr 3;174:116526. doi: 10.1016/j.biopha.2024.116526. Online ahead of print.ABSTRACTSpinocerebellar ataxia type 1 (SCA1) is a debilitating neurodegenerative disorder of the cerebellum and brainstem. Memantine has been proposed as a potential treatment for SCA1. It blocks N-methyl-D-aspartate (NMDA) receptors on neurons, reduces excitotoxicity and decreases neurodegeneration in Alzheimer models. However, in cerebellar neurodegenerative diseases, the potential value of memantine is still unclear. We investigated the effects of memantine on motor performance and synaptic transmission in the cerebellum...
Source: Biomedicine and pharmacotherapy = Biomedecine and pharmacotherapie - April 4, 2024 Category: Drugs & Pharmacology Authors: Olga S Belozor Alex Vasilev Alexandra G Mileiko Lyudmila D Mosina Ilya G Mikhailov Darius A Ox Elizaveta B Boitsova Andrey N Shuvaev Anja G Teschemacher Sergey Kasparov Anton N Shuvaev Source Type: research
Phenotypical, genotypical and pathological characterization of the moonwalker mouse, a model of ataxia
Neurobiol Dis. 2024 Apr 2;195:106492. doi: 10.1016/j.nbd.2024.106492. Online ahead of print.ABSTRACTWe performed a comprehensive study of the morphological, functional, and genetic features of moonwalker (MWK) mice, a mouse model of spinocerebellar ataxia caused by a gain of function of the TRPC3 channel. These mice show numerous behavioral symptoms including tremor, altered gait, circling behavior, impaired motor coordination, impaired motor learning and decreased limb strength. Cerebellar pathology is characterized by early and almost complete loss of unipolar brush cells as well as slowly progressive, moderate loss of P...
Source: Neurobiology of Disease - April 4, 2024 Category: Neurology Authors: Gabriella Sekerkov á S ümeyra Kiliç Yen-Hsin Cheng Natalie Fredrick Anne Osmani Haram Kim Puneet Opal Marco Martina Source Type: research
Long-term outcomes of hospitalized patients with SARS-CoV-2/COVID-19 with and without neurological involvement: 3-year follow-up assessment
by Anna Eligulashvili, Moshe Gordon, Jimmy S. Lee, Jeylin Lee, Shiv Mehrotra-Varma, Jai Mehrotra-Varma, Kevin Hsu, Imanyah Hilliard, Kristen Lee, Arleen Li, Muhammed Amir Essibayi, Judy Yee, David J. Altschul, Emad Eskandar, Mark F. Mehler, Tim Q. Duong
BackgroundAcute neurological manifestation is a common complication of acute Coronavirus Disease 2019 (COVID-19) disease. This retrospective cohort study investigated the 3-year outcomes of patients with and without significant neurological manifestations during initial COVID-19 hospitalization. Methods and findingsPatients hospitalized for Severe Acute Respiratory Syndrome...
Source: PLoS Medicine - April 4, 2024 Category: Internal Medicine Authors: Anna Eligulashvili Source Type: research
Approval of omaveloxolone for Friedreich ataxia
Nature Reviews Neurology, Published online: 03 April 2024; doi:10.1038/s41582-024-00957-9The recent approval of omaveloxolone for the treatment of Friedreich ataxia in the USA and Europe represents an important milestone in the field of rare neurological diseases. However, many challenges lie ahead, including the translation of trial results into clinical practice, and the management of patients’ expectations. (Source: Nature Reviews Neurology)
Source: Nature Reviews Neurology - April 3, 2024 Category: Neurology Authors: Sylvia Boesch Elisabetta Indelicato Source Type: research
Ancestral allele of DNA polymerase gamma modifies antiviral tolerance
Nature, Published online: 03 April 2024; doi:10.1038/s41586-024-07260-zThe POLG1 mutation p.W748S, which is associated with mitochondrial recessive ataxia syndrome, dampens innate immune responses by compromising mtDNA replisome stability, and this explains why a viral infection can trigger the development of the disease and contribute to its variable clinical manifestation. (Source: Nature AOP)
Source: Nature AOP - April 3, 2024 Category: Research Authors: Yilin Kang Jussi Hepojoki Rocio Sartori Maldonado Takayuki Mito M ügen Terzioglu Tuula Manninen Ravi Kant Sachin Singh Alaa Othman Rohit Verma Johanna Uusimaa Kirmo Wartiovaara Lauri Kareinen Nicola Zamboni Tuula Anneli Nyman Anders Paetau Anja Kipar Oll Source Type: research
Resection of the quadrangular lobule of the cerebellum to increase exposure of the cerebellomesencephalic fissure: an anatomical study with clinical correlation
CONCLUSIONS: QLC resection significantly increased the exposure area, mainly in the anteroposterior axis. This surgical strategy appears to be safe and may help the neurosurgeon when operating on the lateral aspect of the cerebellomesencephalic fissure.PMID:38564813 | DOI:10.3171/2023.7.JNS222838 (Source: Journal of Neurosurgery)
Source: Journal of Neurosurgery - April 2, 2024 Category: Neurosurgery Authors: Juan Leonardo Serrato-Avila Juan Alberto Paz Archila Alejandro Monroy-Sosa Sebastian An íbal Alejandro Marcos Devanir Silva da Costa Sergio Cavalheiro Kaan Yagmurlu Michael T Lawton Feres Chaddad-Neto Source Type: research
