Genetic aspects of ataxias in a cohort of Turkish patients
ConclusionsThe diagnosis of ataxia patients with unknown etiology is made possible thanks to these clues. Consideration of a genetic approach is recommended in patients with ataxia of unknown etiology. (Source: Neurological Sciences)
Source: Neurological Sciences - April 8, 2024 Category: Neurology Source Type: research
Preliminary Report of Fully Endoscopic Microvascular Decompression
CONCLUSION: Fully E-MVD demonstrated similar clinical outcomes to microscopic MVD. It offered a similar complication rate, shorter operation time, and a panoramic view with a smaller craniectomy size. Although there is a learning curve associated with fully E-MVD, it presents a viable alternative in the endoscopic era.PMID:38583999 | DOI:10.3340/jkns.2024.0003 (Source: Journal of Korean Neurosurgical Society)
Source: Journal of Korean Neurosurgical Society - April 7, 2024 Category: Neurosurgery Authors: Gi-Yong Yun Jae-Min Ahn Jong-Hyun Park Hyuk-Jin Oh Jai-Joon Shim Seok Mann Yoon 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
Mitochondrial dysfunction in Fragile X syndrome and Fragile X-associated tremor/ataxia syndrome: prospect use of antioxidants and mitochondrial nutrients
Mol Biol Rep. 2024 Apr 5;51(1):480. doi: 10.1007/s11033-024-09415-7.ABSTRACTFragile X syndrome (FXS) is a genetic disorder characterized by mutation in the FMR1 gene, leading to the absence or reduced levels of fragile X Messenger Ribonucleoprotein 1 (FMRP). This results in neurodevelopmental deficits, including autistic spectrum conditions. On the other hand, Fragile X-associated tremor/ataxia syndrome (FXTAS) is a distinct disorder caused by the premutation in the FMR1 gene. FXTAS is associated with elevated levels of FMR1 mRNA, leading to neurodegenerative manifestations such as tremors and ataxia.Mounting evidence sugg...
Source: Molecular Biology Reports - April 5, 2024 Category: Molecular Biology Authors: Giovanni Pagano Alex Lyakhovich Federico V Pallard ó Luca Tiano Adriana Zatterale Marco Trifuoggi Source Type: research
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
Mitochondrial dysfunction in Fragile X syndrome and Fragile X-associated tremor/ataxia syndrome: prospect use of antioxidants and mitochondrial nutrients
Mol Biol Rep. 2024 Apr 5;51(1):480. doi: 10.1007/s11033-024-09415-7.ABSTRACTFragile X syndrome (FXS) is a genetic disorder characterized by mutation in the FMR1 gene, leading to the absence or reduced levels of fragile X Messenger Ribonucleoprotein 1 (FMRP). This results in neurodevelopmental deficits, including autistic spectrum conditions. On the other hand, Fragile X-associated tremor/ataxia syndrome (FXTAS) is a distinct disorder caused by the premutation in the FMR1 gene. FXTAS is associated with elevated levels of FMR1 mRNA, leading to neurodegenerative manifestations such as tremors and ataxia.Mounting evidence sugg...
Source: Molecular Biology Reports - April 5, 2024 Category: Molecular Biology Authors: Giovanni Pagano Alex Lyakhovich Federico V Pallard ó Luca Tiano Adriana Zatterale Marco Trifuoggi Source Type: research
