SQSTM1 Mutation Presenting as a Progressive Supranuclear Palsy Mimic

Movement Disorders Clinical PracticeVolume 10, Issue 5 p. 839-841 LETTERS: GENOTYPE AND PHENOTYPE SQSTM1 Mutation Presenting as a Progressive Supranuclear Palsy Mimic Cherry H. Yu MD, Corresponding Author Cherry H. Yu MD [email protected] orcid.org/0000-0003-2586-0616 Department of Neurology, Medical University of South Carolina, Charleston, South Carolina, USA Correspondence to: Dr. Cherry H. Yu, Department of Neurology, Medical University of South Carolina, Charleston, SC 29425, USA; E-mail: [email protected]Search for more papers by this authorHelen Dainton-Howard MD, Helen Dainton-Howard MD Department of Neurology, Medical University of South Carolina, Charleston, South Carolina, USASearch for more papers by this authorMaysen Mesaros MS, CGC, Maysen Mesaros MS, CGC Department of Neurology, Medical University of South Carolina, Charleston, South Carolina, USASearch for more papers by this authorFederico Rodriguez-Porcel MD, Federico Rodriguez-Porcel MD orcid.org/0000-0002-7492-5095 Department of Neurology, Medical University of South Carolina, Charleston, South Carolina, USASearch for more papers by this author Cherry H. Yu MD, Corresponding Author Cherry H. Yu MD [email protected] orcid.org/0000-0003-2586-0616 Department of Neurology, Medical University of South Carolina, Charleston, South Carolina, USA Correspondence to: Dr. Cherry H. Yu, Department of Neurology, Medical University of South Carolina, Charleston, SC 29425, USA; E-mail: [email protected]Search for more papers by this authorHelen Dainton-Howard MD, Helen Dainton-Howard MD Department of Neurology, Medical University of South Carolina, Charleston, South Carolina, USASearch for more papers by this authorMaysen Mesaros MS, CGC, Maysen Mesaros MS, CGC Department of Neurology, Medical University of South Carolina, Charleston, South Carolina, USASearch for more papers by this authorFederico Rodriguez-Porcel MD, Federico Rodriguez-Porcel MD orcid.org/0000-0002-7492-5095 Department of Neurology, Medical University of South Carolina, Charleston, South Carolina, USASearch for more papers by this author First published: 24 February 2023 https://doi.org/10.1002/mdc3.13707Read the full textAboutPDF ToolsRequest permissionExport citationAdd to favoritesTrack citation ShareShare Give accessShare full text accessShare full-text accessPlease review our Terms and Conditions of Use and check box below to share full-text version of article.I have read and accept the Wiley Online Library Terms and Conditions of UseShareable LinkUse the link below to share a full-text version of this article with your friends and colleagues. Learn more.Copy URL No abstract is available for this article. References 1Hoglinger GU, Respondek G, Stamelou M, et al. Clinical diagnosis of progressive supranuclear palsy: the movement disorder society criteria. Mov Disord 2017; 32(6): 853– 864. 2van der Zee J, Van Langenhove T, Kovacs GG, et al. Rare mutations in SQSTM1 modify susceptibility to frontotemporal lobar degeneration. Acta Neuropathol 2014; 128(3): 397– 410. 3Krzosek P, Madetko N, Migda A, Migda B, Jagus D, Alster P. Differential diagnosis of rare subtypes of progressive supranuclear palsy and PSP-like syndromes-infrequent manifestations of the most common form of atypical parkinsonism. Front Aging Neurosci 2022; 14:804385. 4Korb MK, Kimonis VE, Mozaffar T. Multisystem proteinopathy: where myopathy and motor neuron disease converge. Muscle Nerve 2021; 63(4): 442– 454. 5Deleon J, Miller BL. Frontotemporal dementia. Handb Clin Neurol 2018; 148: 409– 430. 6Le Ber I, Camuzat A, Guerreiro R, et al. SQSTM1 mutations in French patients with frontotemporal dementia or frontotemporal dementia with amyotrophic lateral sclerosis. JAMA Neurol 2013; 70(11): 1403– 1410. 7Takada LT. The genetics of monogenic frontotemporal dementia. Dement Neuropsychol 2015; 9(3): 219– 229. 8Boutoleau-Bretonniere C, Camuzat A, Le Ber I, et al. A phenotype of atypical apraxia of speech in a family carrying SQSTM1 mutation. J Alzheimers Dis 2015; 43(2): 625– 630. 9Haack TB, Ignatius E, Calvo-Garrido J, et al. Absence of the autophagy adaptor SQSTM1/p62 causes childhood-onset neurodegeneration with ataxia, dystonia, and gaze palsy. Am J Hum Genet 2016; 99(3): 735– 743. 10Zuniga-Ramirez C, de Oliveira LM, Kramis-Hollands M, et al. Beyond dystonia and ataxia: expanding the phenotype of SQSTM1 mutations. Parkinsonism Relat Disord 2019; 62: 192– 195. Volume10, Issue5May 2023Pages 839-841 ReferencesRelatedInformation