Anderson-Fabry Disease: A New Piece of the Lysosomal Puzzle in Parkinson Disease?

被引:2
作者
Zedde, Marialuisa [1 ]
Pascarella, Rosario [2 ]
Cavallieri, Francesco [1 ]
Pezzella, Francesca Romana [3 ]
Grisanti, Sara [4 ]
Di Fonzo, Alessio [5 ]
Valzania, Franco [1 ]
机构
[1] Azienda Unita Sanita Locale IRCCS Reggio Emilia, Neuromotor & Rehabil Dept, Neurol Unit, I-42123 Reggio Emilia, Italy
[2] Azienda Unita Sanit Locale IRCCS Reggio Emilia, Radiol Dept, Neuroradiol Unit, I-42123 Reggio Emilia, Italy
[3] AO San Camillo Forlanini, Dipartimento Neurosci, Neurol Unit, Stroke Unit, I-00152 Rome, Italy
[4] Univ Modena & Reggio Emilia, Clin & Expt Med PhD Program, I-41121 Modena, Italy
[5] Fdn IRCCS CaGranda Osped Maggiore Policlin, Neurol Unit, I-20122 Milan, Italy
关键词
Anderson-Fabry disease; Parkinson disease; alpha-galactosidase; lysosomal enzymes; neurodegenerative; neuroimaging; NERVOUS-SYSTEM INVOLVEMENT; BRAIN-TISSUE ALTERATIONS; ALPHA-GALACTOSIDASE; CEREBROSPINAL-FLUID; MAGNETIC-RESONANCE; GLUCOCEREBROSIDASE ACTIVITY; GAUCHER-DISEASE; MUTATIONS; RISK; CONNECTIVITY;
D O I
10.3390/biomedicines10123132
中图分类号
Q5 [生物化学]; Q7 [分子生物学];
学科分类号
071010 ; 081704 ;
摘要
Anderson-Fabry disease (AFD) is an inherited lysosomal storage disorder characterized by a composite and multisystemic clinical phenotype and frequent involvement of the central nervous system (CNS). Research in this area has largely focused on the cerebrovascular manifestations of the disease, and very little has been described about further neurological manifestations, which are known in other lysosomal diseases, such as Gaucher disease. In particular, a clinical and neuroimaging phenotype suggesting neurodegeneration as a putative mechanism has never been fully described for AFD, but the increased survival of affected patients with early diagnosis and the possibility of treatment have given rise to some isolated reports in the literature on the association of AFD with a clinical phenotype of Parkinson disease (PD). The data are currently scarce, but it is possible to hypothesize the molecular mechanisms of cell damage that support this association; this topic is worthy of further study in particular in relation to the therapeutic possibilities, which have significantly modified the natural history of the disease but which are not specifically dedicated to the CNS. In this review, the molecular mechanisms underlying this association will be proposed, and the available data with implications for future research and treatment will be rewritten.
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页数:13
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共 86 条
[1]   Biomarkers of Myocardial Fibrosis: Revealing the Natural History of Fibrogenesis in Fabry Disease Cardiomyopathy [J].
Aguiar, Patricio ;
Azevedo, Olga ;
Pinto, Rui ;
Marino, Jacira ;
Cardoso, Carlos ;
Sousa, Nuno ;
Cunha, Damiao ;
Hughes, Derralynn ;
Ducla Soares, Jose Luis .
JOURNAL OF THE AMERICAN HEART ASSOCIATION, 2018, 7 (06)
[2]   Voxel based analyses of diffusion tensor imaging in Fabry disease [J].
Albrecht, J. ;
Dellani, P. R. ;
Mueller, M. J. ;
Schermuly, I. ;
Beck, M. ;
Stoeter, P. ;
Gerhard, A. ;
Fellgiebel, A. .
JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY, 2007, 78 (09) :964-969
[3]   Alpha galactosidase A activity in Parkinson's disease [J].
Alcalay, R. N. ;
Wolf, P. ;
Levy, O. A. ;
Kang, U. J. ;
Waters, C. ;
Fahn, S. ;
Ford, B. ;
Kuo, S. H. ;
Vanegas, N. ;
Shah, H. ;
Liong, C. ;
Narayan, S. ;
Pauciulo, M. W. ;
Nichols, W. C. ;
Gan-Or, Z. ;
Rouleau, G. A. ;
Chung, W. K. ;
Oliva, P. ;
Keutzer, J. ;
Marder, K. ;
Zhang, X. K. .
NEUROBIOLOGY OF DISEASE, 2018, 112 :85-90
[4]   SCARB2 variants and glucocerebrosidase activity in Parkinson’s disease [J].
Alcalay R.N. ;
Levy O.A. ;
Wolf P. ;
Oliva P. ;
Zhang X.K. ;
Waters C.H. ;
Fahn S. ;
Kang U.J. ;
Liong C. ;
Ford B. ;
Mazzoni P. ;
Kuo S. ;
Johnson A. ;
Xiong L. ;
Rouleau G.A. ;
Chung W.K. ;
Marder K.S. ;
Gan-Or Z. .
npj Parkinson's Disease, 2 (1)
[5]   Comparison of Parkinson Risk in Ashkenazi Jewish Patients With Gaucher Disease and GBA Heterozygotes [J].
Alcalay, Roy N. ;
Dinur, Tama ;
Quinn, Timothy ;
Sakanaka, Karina ;
Levy, Oren ;
Waters, Cheryl ;
Fahn, Stanley ;
Dorovski, Tsvyatko ;
Chung, Wendy K. ;
Pauciulo, Michael ;
Nichols, William ;
Rana, Huma Q. ;
Balwani, Manisha ;
Bier, Louise ;
Elstein, Deborah ;
Zimran, Ari .
JAMA NEUROLOGY, 2014, 71 (06) :752-757
[6]  
[Anonymous], US
[7]   The epidemiology of Parkinson's disease: risk factors and prevention [J].
Ascherio, Alberto ;
Schwarzschild, Michael A. .
LANCET NEUROLOGY, 2016, 15 (12) :1255-1270
[8]   Putative second hit rare genetic variants in families with seemingly GBA-associated Parkinson's disease [J].
Aslam, Muhammad ;
Kandasamy, Nirosiya ;
Ullah, Anwar ;
Paramasivam, Nagarajan ;
Ozturk, Mehmet Ali ;
Naureen, Saima ;
Arshad, Abida ;
Badshah, Mazhar ;
Khan, Kafaitullah ;
Wajid, Muhammad ;
Abbasi, Rashda ;
Ilyas, Muhammad ;
Eils, Roland ;
Schlesner, Matthias ;
Wade, Rebecca C. ;
Ahmad, Nafees ;
von Engelhardt, Jakob .
NPJ GENOMIC MEDICINE, 2021, 6 (01)
[9]   Founder effect of Fabry disease due to p.F113L mutation: Clinical profile of a late-onset phenotype [J].
Azevedo, Olga ;
Gal, Andreas ;
Faria, Rui ;
Gaspar, Paulo ;
Miltenberger-Miltenyi, Gabriel ;
Gago, Miguel F. ;
Dias, Fatima ;
Martins, Alice ;
Rodrigues, Jorge ;
Reimao, Pedro ;
Pereira, Olga ;
Simoes, Sonia ;
Lopes, Emilia ;
Guimaraes, Maria Jose ;
Sousa, Nuno ;
Cunha, Damiao .
MOLECULAR GENETICS AND METABOLISM, 2020, 129 (02) :150-160
[10]   Lysosomal hydrolases in cerebrospinal fluid from subjects with Parkinson's disease [J].
Balducci, Chiara ;
Pierguidi, Laura ;
Persichetti, Emanuele ;
Parnetti, Lucilla ;
Sbaragli, Michele ;
Tassi, Carmelo ;
Orlacchio, Aldo ;
Calabresi, Paolo ;
Beccari, Tommaso ;
Rossi, Aroldo .
MOVEMENT DISORDERS, 2007, 22 (10) :1481-1484