| Sonstiges: |
- Nachgewiesen in: MEDLINE
- Sprachen: English
- Publication Type: Journal Article
- Language: English
- [Mol Biol Rep] 2024 Jan 16; Vol. 51 (1), pp. 113. <i>Date of Electronic Publication: </i>2024 Jan 16.
- MeSH Terms: Essential Tremor* / epidemiology ; Essential Tremor* / genetics ; Spinocerebellar Ataxias* / epidemiology ; Spinocerebellar Ataxias* / genetics ; Humans ; China / epidemiology ; Nucleotides
- References: Louis ED, Ferreira JJ (2010) How common is the most common adult movement disorder? Update on the worldwide prevalence of essential tremor. Mov Disord 25(5):534. (PMID: 2017518510.1002/mds.22838) ; Tanner CM, Goldman SM, Lyons KE et al (2001) Essential tremor in twins: an assessment of genetic vs environmental determinants of etiology. Neurology 57(8):1389. (PMID: 1167357710.1212/WNL.57.8.1389) ; Louis ED, Dogu O (2007) Does age of onset in essential tremor have a bimodal distribution? Data from a tertiary referral setting and a population-based study. Neuroepidemiology 29(3–4):208. (PMID: 18043006282458310.1159/000111584) ; Jimenez-Jimenez FJ, Alonso-Navarro H, Garcia-Martin E et al (2021) Genomic markers for essential tremor. Pharmaceuticals 14(6):516. (PMID: 34072005822673410.3390/ph14060516) ; Stefansson H, Steinberg S, Petursson H et al (2009) Variant in the sequence of the LINGO1 gene confers risk of essential tremor. Nat Genet 41(3):277. (PMID: 19182806374095610.1038/ng.299) ; Louis ED (2016) Linking essential tremor to the cerebellum: neuropathological evidence. Cerebellum 15(3):235. (PMID: 2612971310.1007/s12311-015-0692-6) ; Louis ED, Kerridge CA, Chatterjee D et al (2019) Contextualizing the pathology in the essential tremor cerebellar cortex: a patholog-omics approach. Acta Neuropathol 138(5):859. (PMID: 31317229728539910.1007/s00401-019-02043-7) ; Louis ED (2014) Essential tremor: from bedside to bench and back to bedside. Curr Opin Neurol 27(4):461. (PMID: 24950011412298610.1097/WCO.0000000000000115) ; O’Hearn E, Holmes SE, Calvert PC et al (2001) SCA-12: Tremor with cerebellar and cortical atrophy is associated with a CAG repeat expansion. Neurology 56(3):299. (PMID: 1117189210.1212/WNL.56.3.299) ; Bonnet C, Apartis E, Anheim M et al (2012) Tremor-spectrum in spinocerebellar ataxia type 3. J Neurol 259(11):2460. (PMID: 2259228610.1007/s00415-012-6531-5) ; Gan SR, Wang J, Figueroa KP et al (2017) Postural tremor and ataxia progression in spinocerebellar ataxias. Tremor Other Hyperkinet Mov (N Y) 7:492. (PMID: 2905714810.5334/tohm.346) ; Nicoletti G, Annesi G, Carrideo S et al (2002) Familial essential tremor is not associated with SCA-12 mutation in southern Italy. Mov Disord 17(4):837. (PMID: 1221089010.1002/mds.10191) ; Tan EK, Tong J, Pavanni R et al (2007) Genetic analysis of SCA 2 and 3 repeat expansions in essential tremor and atypical Parkinsonism. Mov Disord 22(13):1971. (PMID: 1771285710.1002/mds.21699) ; Chen CM, Hou YT, Liu JY et al (2009) PPP2R2B CAG repeat length in the Han Chinese in Taiwan: Association analyses in neurological and psychiatric disorders and potential functional implications. Am J Med Genet B Neuropsychiatr Genet 150B(1):124. (PMID: 1848408610.1002/ajmg.b.30785) ; Clark LN, Ye X, Liu X et al (2015) Genetic analysis of ten common degenerative hereditary ataxia loci in patients with essential tremor. Parkinsonism Relat Disord 21(8):943. (PMID: 26077168457289410.1016/j.parkreldis.2015.06.004) ; Chinese Society of Parkinson’s D, Movement D, et al. (2020) Chinese guidelines for diagnosis and treatment of essential tremor 2020. Chinese J Neurol 53(12): 987. ; Hopfner F, Ahlf A, Lorenz D et al (2016) Early- and late-onset essential tremor patients represent clinically distinct subgroups. Mov Disord 31(10):1560. (PMID: 2738403010.1002/mds.26708) ; Louis ED, Faust PL (2020) Essential tremor within the broader context of other forms of cerebellar degeneration. Cerebellum 19(6):879. (PMID: 32666285759389410.1007/s12311-020-01160-4) ; Dong Y, Wu JJ, Wu ZY (2015) Identification of 46 CAG repeats within PPP2R2B as probably the shortest pathogenic allele for SCA12 [J]. Parkinsonism Relat Disord 21(4):398. (PMID: 2563443210.1016/j.parkreldis.2015.01.006) ; Srivastava AK, Choudhry S, Gopinath MS et al (2001) Molecular and clinical correlation in five Indian families with spinocerebellar ataxia 12. Ann Neurol 50(6):796. (PMID: 1176147810.1002/ana.10048) ; O’Hearn E, Holmes SE, Margolis RL (2012) Spinocerebellar ataxia type 12. Handb Clin Neurol 103:535. (PMID: 2182791210.1016/B978-0-444-51892-7.00034-6) ; Jankovic J, Beach J, Pandolfo M et al (1997) Familial essential tremor in 4 kindreds prospects for genetic mapping. Arch Neurol 54(3):289. (PMID: 907439810.1001/archneur.1997.00550150047015) ; Schöls L, Bauer P, Schmidt T et al (2004) Autosomal dominant cerebellar ataxias: clinical features, genetics, and pathogenesis. Lancet Neurol 3(5):291. (PMID: 1509954410.1016/S1474-4422(04)00737-9) ; Klockgether T, Mariotti C, Paulson HL (2019) Spinocerebellar ataxia. Nat Rev Dis Primers 5(1):24. (PMID: 3097599510.1038/s41572-019-0074-3) ; Wan N, Chen Z, Wan L et al (2021) Genetic etiology of a Chinese ataxia cohort: Expanding the mutational spectrum of hereditary ataxias. Parkinsonism Relat Disord 89:120. (PMID: 3428428510.1016/j.parkreldis.2021.07.010) ; Wang JL, Xiao B, Cui XX et al (2009) Analysis of SCA2 and SCA3/MJD repeats in Parkinson’s disease in mainland China: genetic, clinical, and positron emission tomography findings. Mov Disord 24(13):2007. (PMID: 1967299110.1002/mds.22727) ; Cubo E, López MD, Ceberio JI et al (2011) Striatal dopamine function in a family with multiple SCA-3 phenotypes. J Neurol 258(2):308. (PMID: 2080934610.1007/s00415-010-5724-z) ; Higgins JJ, Nee LE, Vasconcelos O et al (1996) Mutations in American families with spinocerebellar ataxia (SCA) type 3: SCA3 is allelic to Machado-Joseph disease. Neurology 46(1):208. (PMID: 855937710.1212/WNL.46.1.208) ; Liao C, Castonguay CE, Heilbron K et al (2022) Association of essential tremor with novel risk loci: a genome-wide association study and meta-analysis. JAMA Neurol 79(2):185. (PMID: 3498211310.1001/jamaneurol.2021.4781) ; Louis ED (2014) Understanding essential tremor: progress on the biological front. Curr Neurol Neurosci Rep 14(6):450. (PMID: 24740806405875810.1007/s11910-014-0450-z) ; Louis ED (2010) Essential tremor: evolving clinicopathological concepts in an era of intensive post-mortem enquiry. Lancet Neurol 9(6):613. (PMID: 2045145810.1016/S1474-4422(10)70090-9) ; Louis ED, Kuo SH, Vonsattel JP et al (2014) Torpedo formation and Purkinje cell loss: modeling their relationship in cerebellar disease. Cerebellum 13(4):433. (PMID: 24590661407797010.1007/s12311-014-0556-5) ; Fremeau RT, Troyer MD, Pahner I et al (2001) The expression of vesicular glutamate transporters defines two classes of excitatory synapse [J]. Neuron 31(2):247. (PMID: 1150225610.1016/S0896-6273(01)00344-0) ; Pan MK, Li YS, Wong SB et al (2020) Cerebellar oscillations driven by synaptic pruning deficits of cerebellar climbing fibers contribute to tremor pathophysiology. Sci Transl Med. https://doi.org/10.1126/scitranslmed.aay1769. (PMID: 10.1126/scitranslmed.aay1769329679708167884) ; Kuo SH, Lin CY, Wang J et al (2017) Climbing fiber-Purkinje cell synaptic pathology in tremor and cerebellar degenerative diseases. Acta Neuropathol 133(1):121. (PMID: 2770428210.1007/s00401-016-1626-1) ; Yamasaki M, Aiba A, Kano M et al (2021) mGluR1 signaling in cerebellar Purkinje cells: Subcellular organization and involvement in cerebellar function and disease. Neuropharmacology 194:108629. (PMID: 3408972810.1016/j.neuropharm.2021.108629) ; Kasumu AW, Liang X, Egorova P et al (2012) Chronic suppression of inositol 1,4,5-triphosphate receptor-mediated calcium signaling in cerebellar purkinje cells alleviates pathological phenotype in spinocerebellar ataxia 2 mice. J Neurosci 32(37):12786. (PMID: 22973002347088410.1523/JNEUROSCI.1643-12.2012) ; Liu J, Tang TS, Tu H et al (2009) Deranged calcium signaling and neurodegeneration in spinocerebellar ataxia type 2. J Neurosci 29(29):9148. (PMID: 19625506274988310.1523/JNEUROSCI.0660-09.2009) ; Gan SR, Figueroa KP, Xu HL et al (2020) The impact of ethnicity on the clinical presentations of spinocerebellar ataxia type 3. Parkinsonism Relat Disord 72:37. (PMID: 32105964716000010.1016/j.parkreldis.2020.02.004) ; Liu XH, Li Y, Xu HL et al (2020) Quantitative assessment of postural instability in spinocerebellar ataxia type 3 patients. Ann Clin Transl Neurol 7(8):1360. (PMID: 32638517744819710.1002/acn3.51124) ; Buijsen RAM, Toonen LJA, Gardiner SL et al (2019) genetics, mechanisms, and therapeutic progress in polyglutamine spinocerebellar ataxias. Neurotherapeutics 16(2):263. (PMID: 30607747655426510.1007/s13311-018-00696-y) ; Takano H, Cancel G, Ikeuchi T et al (1998) Close associations between prevalences of dominantly inherited spinocerebellar ataxias with CAG-repeat expansions and frequencies of large normal CAG alleles in Japanese and Caucasian populations. Am J Hum Genet 63(4):1060. (PMID: 9758625137749910.1086/302067) ; Mongelli A, Magri S, Salvatore E et al (2020) Frequency and distribution of polyQ disease intermediate-length repeat alleles in healthy Italian population. Neurol Sci 41(6):1475. (PMID: 3194011110.1007/s10072-019-04233-3) ; Naruse H, Matsukawa T, Ishiura H et al (2019) Association of ATXN2 intermediate-length CAG repeats with amyotrophic lateral sclerosis correlates with the distributions of normal CAG repeat alleles among individual ethnic populations. Neurogenetics 20(2):65. (PMID: 3084764810.1007/s10048-019-00570-9) ; Mongelli A, Sarro L, Rizzo E et al (2018) Multiple system atrophy and CAG repeat length: a genetic screening of polyglutamine disease genes in Italian patients. Neurosci Lett 678:37. (PMID: 2971554510.1016/j.neulet.2018.04.044) ; Kim JM, Hong S, Kim GP et al (2007) Importance of low-range CAG expansion and CAA interruption in SCA2 Parkinsonism. Arch Neurol 64(10):1510. (PMID: 1792363510.1001/archneur.64.10.1510) ; Wang JL, Wu YQ, Lei LF et al (2010) Polynucleotide repeat expansion of nine spinocerebellar ataxia subtypes and dentatorubral-pallidoluysian atrophy in healthy Chinese Han population. Zhonghua Yi Xue Yi Chuan Xue Za Zhi 27(5):501. (PMID: 20931525) ; Ng ASL, Lim WK, Xu Z et al (2020) NOTCH2NLC GGC repeat expansions are associated with sporadic essential tremor: variable disease expressivity on long-term follow-up. Ann Neurol 88(3):614. (PMID: 3249537110.1002/ana.25803) ; Sun QY, Xu Q, Tian Y et al (2020) Expansion of GGC repeat in the human-specific NOTCH2NLC gene is associated with essential tremor. Brain 143(1):222. (PMID: 3181994510.1093/brain/awz372)
- Grant Information: 2023KY838 Health Science and Technology Program of Zhejiang Province; No. WKJ-ZJ-2208 Major Health Science and Technology Program of Zhejiang Province; LZ23H090004 Key Projects of Zhejiang Provincial Natural Science Fund
- Contributed Indexing: Keywords: Chinese; Early-onset; Essential tremor; Genetics; Spinocerebellar ataxia
- Substance Nomenclature: 0 (Nucleotides)
- SCR Disease Name: Spinocerebellar Ataxia 12
- Entry Date(s): Date Created: 20240116 Date Completed: 20240117 Latest Revision: 20240117
- Update Code: 20240117
|
