共查询到20条相似文献,搜索用时 15 毫秒
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Adeline S. L. Ng MRCP Weng Khong Lim PhD Zheyu Xu FRACP Helen L. Ong BSc Yi Jayne Tan BSc Wei Ying Sim BSc Ebonne Y. L. Ng BSc Jing Xian Teo BSc Jia Nee Foo PhD Tchoyoson C. C. Lim FRCR Wai-Yung Yu FRCR Ling-Ling Chan MD Hwei-Yee Lee FRCPath Zhiyong Chen MRCP Ee-Wei Lim MRCP Simon K. S. Ting FRCP Kumar M. Prakash FRCP Louis C. S. Tan FRCP Zhao Yi PhD Eng-King Tan MD 《Annals of neurology》2020,88(3):614-618
We screened 662 subjects comprising 462 essential tremor (ET) subjects (285 sporadic, 125 with family history, and 52 probands from well-characterized ET pedigrees) and 200 controls and identified pathogenic NOTCH2NLC GGC repeat expansions in 4 sporadic ET patients. Two patients were followed up for >1 decade; one with 90 repeats remained an ET phenotype that did not evolve after 40 years, whereas another patient with 107 repeats developed motor symptoms and cognitive impairment after 8 to 10 years. Neuroimaging in this patient revealed severe leukoencephalopathy; diffusion-weighted imaging hyperintensity in the corticomedullary junction and skin biopsy revealed intranuclear inclusions suggestive of intranuclear inclusion body disease (NIID). No GGC repeats of >60 units were detected in familial ET cases and controls, although 4 ET patients carried 47 to 53 “intermediate” repeats. NOTCH2NLC GGC repeat expansions can be associated with sporadic ET. Carriers presenting with a pure ET phenotype may or may not convert to NIID up to 4 decades after initial tremor onset. ANN NEUROL 2020;88:614–618 相似文献
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Masaki Okubo Hiroshi Doi Ryoko Fukai Atsushi Fujita Satomi Mitsuhashi Shunta Hashiguchi Hitaru Kishida Naohisa Ueda Keisuke Morihara Akihiro Ogasawara Yuko Kawamoto Tatsuya Takahashi Keita Takahashi Haruko Nakamura Misako Kunii Mikiko Tada Atsuko Katsumoto Hiromi Fukuda Takeshi Mizuguchi Satoko Miyatake Noriko Miyake Junichiro Suzuki Yasuhiro Ito Jun Sone Gen Sobue Hideyuki Takeuchi Naomichi Matsumoto Fumiaki Tanaka 《Annals of neurology》2019,86(6):962-968
Leukoencephalopathies comprise a broad spectrum of disorders, but the genetic background of adult leukoencephalopathies has rarely been assessed. In this study, we analyzed 101 Japanese patients with genetically unresolved adult leukoencephalopathy using whole‐exome sequencing and repeat‐primed polymerase chain reaction for detecting GGC expansion in NOTCH2NLC. NOTCH2NLC was recently identified as the cause of neuronal intranuclear inclusion disease. We found 12 patients with GGC expansion in NOTCH2NLC as the most frequent cause of adult leukoencephalopathy followed by NOTCH3 variants in our cohort. Furthermore, we found 1 case with de novo GGC expansion, which might explain the underlying pathogenesis of sporadic cases. ANN NEUROL 2019;86:962–968 相似文献
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Wai Yan Yau FRACP Jana Vandrovcova PhD Roisin Sullivan MSc Zhongbo Chen MRCP Anna Zecchinelli MD Roberto Cilia MD Stefano Duga PhD Malgorzata Murray MSc Susana Carmona PhD Genomics England Research Consortium Viorica Chelban MRCP Hiroyuki Ishiura MD PhD Shoji Tsuji MD PhD Zane Jaunmuktane FRCPath Chris Turner FRCP PhD Nicholas W. Wood FRCP PhD Henry Houlden FRCP PhD 《Movement disorders》2021,36(1):251-255
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Qiong Liu Juan Chen Jin Xue Xun Zhou Yun Tian Qiao Xiao Wen Huang Yongcheng Pan Xiaoxia Zhou Jian Li Yuwen Zhao Hongxu Pan Yige Wang Runcheng He Yaqin Xiang Tian Tu Qian Xu Qiying Sun Jieqiong Tan Xinxiang Yan Jinchen Li Jifeng Guo Lu Shen Ranhui Duan Beisha Tang Zhenhua Liu 《European journal of neurology》2024,31(2):e16145
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Jennifer S. Rabin Hyun‐Sik Yang Aaron P. Schultz Bernard J. Hanseeuw Trey Hedden Anand Viswanathan Jennifer R. Gatchel Gad A. Marshall Emily Kilpatrick Hannah Klein Vaishnavi Rao Rachel F. Buckley Wai‐Ying Wendy Yau Dylan R. Kirn Dorene M. Rentz Keith A. Johnson Reisa A. Sperling Jasmeer P. Chhatwal 《Annals of neurology》2019,85(2):272-279
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Chondroitin sulfate proteoglycans (CSPG) are extracellular matrix proteins inhibitory to neurite outgrowth in vitro and correlated with decreased neurite outgrowth after CNS injury. Previously, heparan sulfate proteoglycan and dermatan sulfate proteoglycan have been shown to be associated with senile plaques (SPs) and neurofibrillary tangles (NFTs) but CSPG was not. In an immunocytochemical study, three monoclonal antibodies to different sulfation states of the chondroitin glycosaminoglycan were used to localize CSPG in cases of Alzheimer's disease. Chondroitin 4-sulfate was found in both SPs and NFTs. An antibody to unsulfated chondroitin strongly immunostained intracellular NFTs and the dystrophic neurites of SPs. Chondroitin 6-sulfate was found in NFTs and the area around SPs. These results suggest that CSPG, in addition or as an alternative to β-amyloid protein, could be responsible for the regression of neurites around senile plaques in Alzheimer's disease. 相似文献
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Almaguer-Mederos Luis E. Aguilera-Rodríguez Raúl Almaguer-Gotay Dennis Hechavarría-Barzaga Kenia Álvarez-Sosa Amarilis Chapman-Rodríguez Yamilé Silva-Ricardo Yanelis González-Zaldivar Yanetza Vázquez-Mojena Yaimé Cuello-Almarales Dany Rodríguez-Estupiñán Annelié 《Cerebellum (London, England)》2020,19(4):597-604
The Cerebellum - Spinocerebellar ataxia type 2 (SCA2) is a progressive neurodegenerative disorder due to an unstable expansion of a CAG repeat in the ATXN2 gene. Despite clinical and experimental... 相似文献
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《Brain & development》2023,45(1):70-76
IntroductionNeuronal intranuclear inclusion disease (NIID) is a rare neurodegenerative disease characterized clinically by eosinophilic hyaline intranuclear inclusions in neuronal and other somatic cells. Skin biopsies are reportedly useful in diagnosing NIID, and the genetic cause of NIID was identified as a GGC repeat expansion in NOTCH2NLC in recent years. The number of adult patients diagnosed via genetic testing has increased; however, there have been no detailed reports of pediatric NIID cases with GGC expansions in NOTCH2NLC. This is the first detailed report of a pediatric patient showing various neurological symptoms from the age of 10 and was ultimately diagnosed with NIID via skin biopsy and triplet repeat primed polymerase chain reaction analyses.Case reportThis was an 18-year-old female who developed cyclic vomiting, distal dominant muscle weakness, and sustained miosis at 10 years. Nerve conduction studies revealed axonal degeneration, and her neuropathy had slowly progressed despite several rounds of high-dose methylprednisolone and intravenous immunoglobulin therapy. At 13 years, she had an acute encephalopathy-like episode. At 15 years, brain MRI revealed slightly high-intensity lesions on diffusion-weighted and T2-weighted imaging in the subcortical white matter of her frontal lobes that expanded over time. At 16 years, esophagography, upper gastrointestinal endoscopy, and esophageal manometry revealed esophageal achalasia, and per-oral endoscopic myotomy was performed. At 18 years, we diagnosed her with NIID based on the findings of skin specimen analyses and a GGC repeat expansion in NOTCH2NLC.ConclusionNIID should be considered as a differential diagnosis in pediatric patients with various neurological symptoms. 相似文献
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Model organisms include yeast Saccromyces cerevisae and fly Drosophila melanogaster. These systems have powerful genetic approaches, as well as highly conserved pathways, both for normal function and disease.
Here, we review and highlight how we applied these systems to provide mechanistic insight into the toxicity of TDP-43. TDP-43
accumulates in pathological aggregates in ALS and about half of FTD. Yeast and fly studies revealed an interaction with the
counterparts of human Ataxin-2, a gene whose polyglutamine repeat expansion is associated with spinocerebellar ataxia type 2. This finding raised the hypothesis
that repeat expansions in ataxin-2 may associate with diseases characterized by TDP-43 pathology such as ALS. DNA analysis
of patients revealed that intermediate-length polyglutamine expansions in ataxin-2 are a risk factor for ALS, such that repeat
lengths are greater than normal, but lower than that associated with spinocerebellar ataxia type 2 (SCA2), and are more frequent
in ALS patients than in matched controls. Moreover, repeat expansions associated with ALS are interrupted CAA-CAG sequences
as opposed to the pure CAG repeat expansions typically associated with SCA2. These studies provide an example of how model
systems, when extended to human cells and human patient tissue, can reveal new mechanistic insight into disease. 相似文献
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Simone Olgiati MSc Marialuisa Quadri PhD Mingyan Fang MSc Janneke P.M.A. Rood MD Jonas A. Saute MD PhD Hsin Fen Chien MD PhD Christian G. Bouwkamp MSc Josja Graafland BSc Michelle Minneboo BSc Guido J. Breedveld BSc Jianguo Zhang PhD The International Parkinsonism Genetics Network Frans W. Verheijen PhD Agnita J.W. Boon MD PhD Anneke J.A. Kievit MD PhD Laura Bannach Jardim MD PhD Wim Mandemakers PhD Egberto Reis Barbosa MD PhD Carlos R.M. Rieder MD PhD Klaus L. Leenders MD PhD Jun Wang PhD Vincenzo Bonifati MD PhD 《Annals of neurology》2016,79(2):244-256
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Multiple Resting‐State Networks Are Associated With Tremors and Cognitive Features in Essential Tremor 下载免费PDF全文
Weidong Fang MD Huiyue Chen BS Hansheng Wang BS Han Zhang PhD Mengqi Liu MD Munankami Puneet BS Fajin Lv MD Oumei Cheng MD Xuefeng Wang MD Xiurong Lu MD Tianyou Luo MD 《Movement disorders》2015,30(14):1926-1936
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Plasma Oligomeric Alpha‐Synuclein Is Associated With Glucocerebrosidase Activity in Gaucher Disease 下载免费PDF全文
Evgenii Nuzhnyi MD Anton Emelyanov PhD Tatyana Boukina PhD Tatiana Usenko PhD Andrey Yakimovskii MD DSci Ekaterina Zakharova MD DSci Sofya Pchelina DSci 《Movement disorders》2015,30(7):989-991
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D. S. Goldstein P. Sullivan C. Holmes I. J. Kopin M. J. Basile D. C. Mash 《European journal of neurology》2011,18(5):703-710
Background: Dihydroxyphenylacetaldehyde (DOPAL), a cytotoxic metabolite of dopamine, is the focus of the ‘catecholaldehyde hypothesis’ about the pathogenesis of Parkinson disease. This study explored whether DOPAL is detectable in human striatum – especially in the putamen (Pu), the main site of dopamine depletion in Parkinson disease – and is related to other neurochemical indices of catecholamine stores and metabolism in Parkinson disease. Methods: Putamen, caudate (Cd), and frontal cortex (Ctx) catechols were measured in tissue from patients with pathologically proven end‐stage Parkinson disease (N = 15) and control subjects (N = 14) of similar age with similar post‐mortem intervals. Results: Putamen DOPAL (3% of dopamine in controls) correlated with dopamine and dihydroxyphenylacetic acid both across all subjects and within the Parkinson disease and control groups. Pu dopamine was decreased by 93% and dihydroxyphenylacetic acid 95% in Parkinson disease vs. controls, with smaller decreases of DOPAL (83%) and norepinephrine (73%) in Pu and of dopamine (74%) and dihydroxyphenylacetic acid (82%) in Cd. In Parkinson disease, Pu DOPAL:dihydroxyphenylacetic acid averaged 3.4 times and DOPAL:dopamine 4.4 times control (P = 0.03 each). The main catecholamine in Ctx was norepinephrine, which was decreased by 51% in Parkinson disease patients. Conclusions: Correlated decreases of DOPAL, dopamine, and dihydroxyphenylacetic acid in Parkinson disease reflect severe loss of Pu dopamine stores, which seems more extensive than loss of Pu norepinephrine or Cd dopamine stores. Increased Pu DOPAL:dihydroxyphenylacetic acid ratios in Parkinson disease suggest decreased detoxification of DOPAL by aldehyde dehydrogenase. Elevated levels of cytosolic DOPAL might contribute to loss of dopaminergic neurons in Parkinson disease. 相似文献