Corticobasal syndrome in a man with Gaucher disease type 1: Expansion of the understanding of the neurological spectrum
Tài liệu tham khảo
Jmoudiak, 2005, Gaucher disease: pathological mechanisms and modern management, Br. J. Haematol., 129, 178, 10.1111/j.1365-2141.2004.05351.x
Ferreira, 2017, Lysosomal storage diseases, Translational Science of Rare Diseases, 2, 1, 10.3233/TRD-160005
Ceravolo, 2017, Combination therapy in a patient with chronic neuronopathic Gaucher disease: a case report, J. Med. Case Rep., 11, 1
Pastores, 2000
Neudorfer, 1996, Occurrence of Parkinson's syndrome in type I Gaucher disease, QJM, 89, 691, 10.1093/qjmed/89.9.691
Biegstraaten, 2010, Peripheral neuropathy in adult type 1 Gaucher disease: a 2-year prospective observational study, Brain, 133, 2909, 10.1093/brain/awq198
Schapira, 2015, Glucocerebrosidase and Parkinson disease: recent advances, Mol. Cell. Neurosci., 66, 37, 10.1016/j.mcn.2015.03.013
Sardi, 2015, Gaucher-related synucleinopathies: the examination of sporadic neurodegeneration from a rare (disease) angle, Prog. Neurobiol., 125, 47, 10.1016/j.pneurobio.2014.12.001
McLean, 2017, Co-morbidity and polypharmacy in Parkinson's disease: insights from a large Scottish primary care database, BMC Neurol., 17, 1
Rodriguez-Porcel, 2017, Parkinson disease in Gaucher disease, Journal of Clinical Movement Disorders, 4, 1
Cherin, 2010, The neurological manifestations of Gaucher disease type 1: the French Observatoire on Gaucher disease (FROG), J. Inherit. Metab. Dis., 33, 331, 10.1007/s10545-010-9095-5
Lwin, 2004, Glucocerebrosidase mutations in subjects with parkinsonism, Mol. Genet. Metab., 81, 70, 10.1016/j.ymgme.2003.11.004
Wong, 2004, Neuropathology provides clues to the pathophysiology of Gaucher disease, Mol. Genet. Metab., 82, 192, 10.1016/j.ymgme.2004.04.011
Tayebi, 2003, Gaucher disease with parkinsonian manifestations: does glucocerebrosidase deficiency contribute to a vulnerability to parkinsonism?, Mol. Genet. Metab., 79, 104, 10.1016/S1096-7192(03)00071-4
Capablo, 2008, Neurological evaluation of patients with Gaucher disease diagnosed as type 1, J. Neurol. Neurosurg. Psychiatry, 79, 219, 10.1136/jnnp.2006.111518
Biegstraaten, 2008, ‘Non-neuronopathic’ Gaucher disease reconsidered. Prevalence of neurological manifestations in a Dutch cohort of type I Gaucher disease patients and a systematic review of the literature, J. Inherit. Metab. Dis., 31, 337, 10.1007/s10545-008-0832-y
Goker-Alpan, 2008, The spectrum of parkinsonian manifestations associated with glucocerebroside mutations, Arch. Neurol., 65, 1353, 10.1001/archneur.65.10.1353
Nalls, 2013, A multicenter study of glucocerebrosidase mutations in dementia with Lewy bodies, JAMA Neurology, 70, 727, 10.1001/jamaneurol.2013.1925
Armstrong, 2013, Criteria for the diagnosis of corticobasal degeneration, Neurology, 80, 496, 10.1212/WNL.0b013e31827f0fd1
Alonso-Canovas, 2010, Atypical Parkinsonism with Apraxia and Supranuclear Gaze Abnormalities in Type 1 Gaucher Disease. Expanding the Spectrum: Case Report and Literature Review, Mov. Disord., 25, 1506, 10.1002/mds.23109
Bultron, 2010, The risk of Parkinson's disease in type 1 Gaucher disease, J. Inherit. Metab. Dis., 33, 167, 10.1007/s10545-010-9055-0
Loddo, 2017, The Treatment of sleep Disorders in Parkinson's Disease: from Research to Clinical Practice, Front. Neurol., 8, 1
Morley, 2018, Optimizing olfactory testing for the diagnosis of Parkinson's disease: item analysis of the University of Pennsylvania smell identification test, Nature Partner Journals: Parkinson's Disease, 4, 1
Hughes, 2007, Recommendations for the management of the haematological and onco-haematological aspects of Gaucher disease, Br. J. Haematol., 138, 676, 10.1111/j.1365-2141.2007.06701.x
Lee, 2011, Clinicopathological correlations in corticobasal degeneration, Ann. Neurol., 70, 327, 10.1002/ana.22424
Kasanuki, 2018, Diffuse Lewy body disease manifesting as corticobasal syndrome: a rare form of Lewy body disease, Neurology, 91, e268, 10.1212/WNL.0000000000005828