Page MJ, McKenzie JE, Bossuyt PM, Boutron I, Hoffmann TC, Mulrow CD, et al. The PRISMA 2020 statement: an updated guideline for reporting systematic reviews. Syst Rev. 2021;10(1):89.
Article PubMed PubMed Central Google Scholar
Feriante J, Gupta V. Neuroacanthocytosis. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2023 [cited 2023 Jul 27]. http://www.ncbi.nlm.nih.gov/books/NBK560767/
Danek A, Rubio JP, Rampoldi L, Ho M, Dobson-Stone C, Tison F, et al. McLeod neuroacanthocytosis: genotype and phenotype. Ann Neurol. 2001;50(6):755–64.
Article CAS PubMed Google Scholar
Roulis E, Hyland C, Flower R, Gassner C, Jung HH, Frey BM. Molecular basis and clinical overview of McLeod syndrome compared with other neuroacanthocytosis syndromes: a review. JAMA Neurol. 2018;75(12):1554–62.
Gradstein L, Danek A, Grafman J, Fitzgibbon E. Eye movements in chorea-acanthocytosis. Invest Ophthalmol Vis Sci. 2005;46:1979–87.
Miranda M, Jung HH, Danek A, Walker RH. The chorea of McLeod syndrome: progression to hypokinesia. Mov Disord. 2012;27(13):1701–2.
Jung HH, Hergersberg M, Kneifel S, Alkadhi H, Schiess R, Weigell-Weber M, et al. McLeod syndrome: a novel mutation, predominant psychiatric manifestations, and distinct striatal imaging findings. Ann Neurol. 2001;49(3):384–92.
Article CAS PubMed Google Scholar
Wang L. Harvey Cushing/John Hay Whitney Medical Library. 2016 [cited 2023 Jul 6]. Yale MeSH Analyzer. https://library.medicine.yale.edu/tutorials/1559
Haddaway NR, Page MJ, Pritchard CC, McGuinness LA. PRISMA2020: An R package and Shiny app for producing PRISMA 2020-compliant flow diagrams, with interactivity for optimised digital transparency and Open Synthesis. Campbell Syst Rev. 2022;18(2): e1230.
Article PubMed PubMed Central Google Scholar
Hardie RJ, Pullon HW, Harding AE, Owen JS, Pires M, Daniels GL, et al. Neuroacanthocytosis. A clinical, haematological and pathological study of 19 cases. Brain. 1991;114 ( Pt 1A):13–49.
Kawakami T, Takiyama Y, Sakoe K, Ogawa T, Yoshioka T, Nishizawa M, et al. A case of McLeod syndrome with unusually severe myopathy. J Neurol Sci. 1999;166(1):36–9.
Article CAS PubMed Google Scholar
Weaver J, Sarva H, Barone D, Bobker S, Bushara K, Hiller A, et al. McLeod syndrome: Five new pedigrees with novel mutations. Parkinsonism Relat Disord. 2019;64:293–9.
Article CAS PubMed Google Scholar
Sveinsson O, Udd B, Svenningsson P, Gassner C, Engström C, Laffita-Mesa J, et al. Involuntary movements, vocalizations and cognitive decline. Parkinsonism Relat Disord. 2020;79:135–7.
Shah JR, Patkar DP, Kamat RN. A case of McLeod phenotype of neuroacanthocytosis brain MR features and literature review. Neuroradiol J. 2013;26(1):21–6.
Article CAS PubMed PubMed Central Google Scholar
Man BL, Yuen YP, Yip SF, Ng SH. The first case report of McLeod syndrome in a Chinese patient. BMJ Case Rep. 2013;2013:bcr2013200205.
Torres V, Painous C, Santacruz P, Sánchez A, Sanz C, Grau-Junyent JM, et al. Very long time persistent HyperCKemia as the first manifestation of McLeod syndrome: a case report. Mov Disord Clin Pract. 2022;9(6):821–4.
Article PubMed PubMed Central Google Scholar
Xia S, Yu X, Song F, Sun B, Wang Y. McLeod syndrome with a novel XK frameshift mutation. Medicine (Baltimore). 2022;101(10): e28996.
Komiya H, Takasu M, Hashiguchi S, Uematsu E, Fukai R, Tanaka K, et al. A Case of McLeod syndrome with a novel XK missense mutation. Movement Disord Clin Pract. 2018;5(3):333–6.
Modrego PJ, Gazulla J, Cobo AM, Urtizberea JA. Une cause inhabituelle d’hyperCKémie. Med Sci (Paris). 2016;32:12–3.
Man BL, Yuen YP, Fu YP. The first report of a Chinese family with McLeod syndrome. BMJ Case Rep. 2014;2014:bcr2013202785.
Haas C, Levin D, Milone M, Vardiman-Ditmanson J, Mathers C. McLeod syndrome in a commercial airline pilot. Aerosp Med Hum Perform. 2021;92(9):734–7.
Chakravarty A, Bhattacharya P, Banerjee D, Mukherjee S. McLeod syndrome: Report of an Indian family with phenotypic heterogeneity. Ann Indian Acad Neurol. 2011;14(1):53–5.
Article PubMed PubMed Central Google Scholar
Dulski J, Sołtan W, Schinwelski M, Rudzińska M, Wójcik-Pędziwiatr M, Wictor L, et al. Clinical variability of neuroacanthocytosis syndromes-a series of six patients with long follow-up. Clin Neurol Neurosurg. 2016;147:78–83.
Article CAS PubMed Google Scholar
Dubielecka PM, Hwynn N, Sengun C, Lee S, Lomas-Francis C, Singer C, et al. Two McLeod patients with novel mutations in XK. J Neurol Sci. 2011;305(1–2):160–4.
Article CAS PubMed PubMed Central Google Scholar
Dotti MT, Battisti C, Malandrini A, Federico A, Rubio JP, Circiarello G, et al. McLeod syndrome and neuroacanthocytosis with a novel mutation in the XK gene. Mov Disord. 2000;15(6):1282–4.
Article CAS PubMed Google Scholar
Nicholl DJ, Sutton I, Dotti MT, Supple SG, Danek A, Lawden M. White matter abnormalities on MRI in neuroacanthocytosis. J Neurol Neurosurg Psychiatry. 2004;75(8):1200–1.
Article CAS PubMed PubMed Central Google Scholar
Wimer BM, Marsh WL, Taswell HF, Galey WR. Haematological changes associated with the McLeod phenotype of the Kell blood group system. Br J Haematol. 1977;36(2):219–24.
Article CAS PubMed Google Scholar
Witt TN, Danek A, Reiter M, Heim MU, Dirschinger J, Olsen EG. McLeod syndrome: a distinct form of neuroacanthocytosis. Report of two cases and literature review with emphasis on neuromuscular manifestations. J Neurol. 1992;239(6):302–6.
Danek A, Tison F, Rubio J, Oechsner M, Kalckreuth W, Monaco AP. The chorea of McLeod syndrome. Mov Disord. 2001;16(5):882–9.
Article CAS PubMed Google Scholar
Gantenbein AR, Damon-Perrière N, Bohlender JE, Chauveau M, Latxague C, Miranda M, et al. Feeding dystonia in McLeod syndrome. Mov Disord. 2011;26(11):2123–6.
Walker RH, Jung HH, Tison F, Lee S, Danek A. Phenotypic variation among brothers with the McLeod neuroacanthocytosis syndrome. Mov Disord. 2007;22(2):244–8.
Jeren-Strujić B, Jeren T, Thaller N, Zivković Z, Raos V. A case of McLeod syndrome with chronic renal failure. Blood Purif. 1998;16(6):336–40.
Bertelson CJ, Pogo AO, Chaudhuri A, Marsh WL, Redman CM, Banerjee D, et al. Localization of the McLeod locus (XK) within Xp21 by deletion analysis. Am J Hum Genet. 1988;42(5):703–11.
CAS PubMed PubMed Central Google Scholar
Murakami T, Abe D, Matsumoto H, Tokimura R, Abe M, Tiksnadi A, et al. A patient with McLeod syndrome showing involvement of the central sensorimotor tracts for the legs. BMC Neurol. 2019;19(1):301.
Article PubMed PubMed Central Google Scholar
Ying Y, Yu S, Zhang J, He J, Xu X, Hong X, et al. A case of McLeod syndrome caused by a nonsense variation c.942G>A in the XK gene: A case report. Front Genet. 2023;14:1073139.
Gassner C, Brönnimann C, Merki Y, Mattle-Greminger MP, Sigurdardottir S, Meyer E, et al. Stepwise partitioning of Xp21: a profiling method for XK deletions causative of the McLeod syndrome. Transfusion. 2017;57(9):2125–35.
Article CAS PubMed Google Scholar
Schon KR, O’Donovan DG, Briggs M, Rowe JB, Wijesekera L, Chinnery PF, et al. Multisystem pathology in McLeod syndrome. Neuropathology. 2024;44(2):109–14.
Riso V, Alessandrini G, Distefano M, Mastrogregori L, Falcone N, Santorelli F. A man with respiratory insufficency, hyperckemia and involuntary movements: the first case of McLeod syndrome in lazio regio. In Neurological Sciences; 2022 [cited 2023 Dec 11]. p. 351.
留言 (0)