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103 results

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Page 1
Spinocerebellar ataxias.
Soong BW, Morrison PJ. Soong BW, et al. Handb Clin Neurol. 2018;155:143-174. doi: 10.1016/B978-0-444-64189-2.00010-X. Handb Clin Neurol. 2018. PMID: 29891056 Review.
In this chapter we delineate the phenotypes of SCAs 1-44 and dentatorubral-pallidoluysian atrophy (DRPLA) and highlight the clinical and genetic features of the well characterised SCAs in detail in the main section of the chapter, along with their frequency a …
In this chapter we delineate the phenotypes of SCAs 1-44 and dentatorubral-pallidoluysian atrophy (DRPLA) and highlight …
Dentatorubral-pallidoluysian Atrophy: An Update.
Carroll LS, Massey TH, Wardle M, Peall KJ. Carroll LS, et al. Tremor Other Hyperkinet Mov (N Y). 2018 Oct 1;8:577. doi: 10.7916/D81N9HST. eCollection 2018. Tremor Other Hyperkinet Mov (N Y). 2018. PMID: 30410817 Free PMC article. Review.
BACKGROUND: Dentatorubral-pallidoluysian atrophy (DRPLA) is a rare, autosomal dominantly inherited disorder characterized by myoclonus, epilepsy, ataxia, and dementia. ...
BACKGROUND: Dentatorubral-pallidoluysian atrophy (DRPLA) is a rare, autosomal dominantly inherited disorder characteriz …
Pallidal degenerations and related disorders: an update.
Jellinger KA. Jellinger KA. J Neural Transm (Vienna). 2022 Jun;129(5-6):521-543. doi: 10.1007/s00702-021-02392-2. Epub 2021 Aug 7. J Neural Transm (Vienna). 2022. PMID: 34363531 Review.
Based on the involved neuronal systems, this heterogenous group has been classified into several subgroups: "pure" pallidal atrophy (PPA) and extended forms, pallidonigral and pallidonigrospinal degeneration (PND, PNSD), pallidopyramidal syndrome (PPS), a highly debatable group, …
Based on the involved neuronal systems, this heterogenous group has been classified into several subgroups: "pure" pallidal atrophy (PPA) an …
Clinical and genetic characteristics of non-Asian dentatorubral-pallidoluysian atrophy: A systematic review.
Wardle M, Morris HR, Robertson NP. Wardle M, et al. Mov Disord. 2009 Aug 15;24(11):1636-40. doi: 10.1002/mds.22642. Mov Disord. 2009. PMID: 19514013 Review.
Dentatorubral-pallidoluysian atrophy (DRPLA) is an inherited neurodegenerative disorder regarded as found almost exclusively among the Japanese. ...
Dentatorubral-pallidoluysian atrophy (DRPLA) is an inherited neurodegenerative disorder regarded as found almost exclus …
Coexistence of dentatorubral-pallidoluysian atrophy and Parkinson's disease: An autopsy case report.
Kim SI, Kim H, Park JW, Choi JH, Kim HJ, Won JK, Jeon B, Park SH. Kim SI, et al. Neuropathology. 2021 Jun;41(3):196-205. doi: 10.1111/neup.12720. Epub 2021 Apr 13. Neuropathology. 2021. PMID: 33851459
We report an autopsy case of a 56-year-old male patient with the coexistence of dentatorubral-pallidoluysian atrophy (DRPLA) and Parkinson's disease (PD). ...
We report an autopsy case of a 56-year-old male patient with the coexistence of dentatorubral-pallidoluysian atrophy (D …
Introduction to the Special Issue on Spinal and Bulbar Muscular Atrophy.
Pennuto M, Gozes I. Pennuto M, et al. J Mol Neurosci. 2016 Mar;58(3):313-6. doi: 10.1007/s12031-016-0720-0. Epub 2016 Feb 13. J Mol Neurosci. 2016. PMID: 26875173
SBMA belongs to the family of polyglutamine diseases, which also includes Huntington's disease, dentatorubral-pallidoluysian atrophy, and spinocerebellar ataxia (SCA) types 1, 2, 3, 6, 7, and 17. ...
SBMA belongs to the family of polyglutamine diseases, which also includes Huntington's disease, dentatorubral-pallidoluysian …
Huntington's disease look-alikes.
Schneider SA, Bhatia KP. Schneider SA, et al. Handb Clin Neurol. 2011;100:101-12. doi: 10.1016/B978-0-444-52014-2.00005-7. Handb Clin Neurol. 2011. PMID: 21496572 Review.
We will concentrate on the four so-called HDL syndromes mentioned above. Other genetic choreatic syndromes such as dentatorubral-pallidoluysian atrophy, neuroferritinopathy, pantothenate kinase-associated neurodegeneration, and chorea-acanthocytosis are also …
We will concentrate on the four so-called HDL syndromes mentioned above. Other genetic choreatic syndromes such as dentatorubral-p …
Potential therapeutic targets in polyglutamine-mediated diseases.
Katsuno M, Watanabe H, Yamamoto M, Sobue G. Katsuno M, et al. Expert Rev Neurother. 2014 Oct;14(10):1215-28. doi: 10.1586/14737175.2014.956727. Epub 2014 Sep 4. Expert Rev Neurother. 2014. PMID: 25190502 Review.
To date, nine polyglutamine diseases are known, including Huntington's disease, spinal and bulbar muscular atrophy, dentatorubral-pallidoluysian atrophy and six forms of spinocerebellar ataxia. ...
To date, nine polyglutamine diseases are known, including Huntington's disease, spinal and bulbar muscular atrophy, dentatorubral- …
The largest caucasian kindred with dentatorubral-pallidoluysian atrophy: A founder mutation in italy.
Grimaldi S, Cupidi C, Smirne N, Bernardi L, Giacalone F, Piccione G, Basiricò S, Mangano GD, Nardello R, Orsi L, Grosso E, Laganà V, Mitolo M, Maletta RG, Bruni AC. Grimaldi S, et al. Mov Disord. 2019 Dec;34(12):1919-1924. doi: 10.1002/mds.27879. Epub 2019 Nov 21. Mov Disord. 2019. PMID: 31755148
BACKGROUND: Dentatorubral-pallidoluysian atrophy is a hereditary neurodegenerative disease prevalently reported in Japan but rare in Caucasians. ...The dentatorubral-pallidoluysian atrophy diagnosis was genetically confirmed in 18 patient …
BACKGROUND: Dentatorubral-pallidoluysian atrophy is a hereditary neurodegenerative disease prevalently reported in Japa …
Huntington's disease phenocopy syndromes.
Wild EJ, Tabrizi SJ. Wild EJ, et al. Curr Opin Neurol. 2007 Dec;20(6):681-7. doi: 10.1097/WCO.0b013e3282f12074. Curr Opin Neurol. 2007. PMID: 17992089 Review.
We review the features of the reported genetic causes of Huntington's disease phenocopy syndromes, including HDL1-3, SCA17, familial prion disease, spinocerebellar ataxias, dentatorubral-pallidoluysian atrophy, chorea-acanthocytosis and iron-accumulation diso …
We review the features of the reported genetic causes of Huntington's disease phenocopy syndromes, including HDL1-3, SCA17, familial prion d …
103 results