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August 13, 2019; 93 (7) Clinical/Scientific Notes

Saposin B deficiency as a cause of adult-onset metachromatic leukodystrophy

Silvia Fenu, Barbara Castellotti, Laura Farina, Tiziana Cavallaro, Daniela Di Bella, Chiara Benzoni, Cinzia Gellera, Davide Pareyson, Franco Taroni, Ettore Salsano
First published July 9, 2019, DOI: https://doi.org/10.1212/WNL.0000000000007951
Silvia Fenu
From the Unit of Rare Neurodegenerative and Neurometabolic Diseases (S.F., C.B., D.P., E.S.), Unit of Medical Genetics and Neurogenetics (B.C., D.D.B., C.G., F.T.), and Unit of Neuroradiology (L.F.), Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan; Department of Neurology (T.C.), Azienda Ospedaliera Universitaria Integrata, University Hospital G.B. Rossi, Verona; and University of Milano-Bicocca (E.S.), Monza, Italy.
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Barbara Castellotti
From the Unit of Rare Neurodegenerative and Neurometabolic Diseases (S.F., C.B., D.P., E.S.), Unit of Medical Genetics and Neurogenetics (B.C., D.D.B., C.G., F.T.), and Unit of Neuroradiology (L.F.), Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan; Department of Neurology (T.C.), Azienda Ospedaliera Universitaria Integrata, University Hospital G.B. Rossi, Verona; and University of Milano-Bicocca (E.S.), Monza, Italy.
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Laura Farina
From the Unit of Rare Neurodegenerative and Neurometabolic Diseases (S.F., C.B., D.P., E.S.), Unit of Medical Genetics and Neurogenetics (B.C., D.D.B., C.G., F.T.), and Unit of Neuroradiology (L.F.), Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan; Department of Neurology (T.C.), Azienda Ospedaliera Universitaria Integrata, University Hospital G.B. Rossi, Verona; and University of Milano-Bicocca (E.S.), Monza, Italy.
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Tiziana Cavallaro
From the Unit of Rare Neurodegenerative and Neurometabolic Diseases (S.F., C.B., D.P., E.S.), Unit of Medical Genetics and Neurogenetics (B.C., D.D.B., C.G., F.T.), and Unit of Neuroradiology (L.F.), Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan; Department of Neurology (T.C.), Azienda Ospedaliera Universitaria Integrata, University Hospital G.B. Rossi, Verona; and University of Milano-Bicocca (E.S.), Monza, Italy.
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Daniela Di Bella
From the Unit of Rare Neurodegenerative and Neurometabolic Diseases (S.F., C.B., D.P., E.S.), Unit of Medical Genetics and Neurogenetics (B.C., D.D.B., C.G., F.T.), and Unit of Neuroradiology (L.F.), Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan; Department of Neurology (T.C.), Azienda Ospedaliera Universitaria Integrata, University Hospital G.B. Rossi, Verona; and University of Milano-Bicocca (E.S.), Monza, Italy.
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Chiara Benzoni
From the Unit of Rare Neurodegenerative and Neurometabolic Diseases (S.F., C.B., D.P., E.S.), Unit of Medical Genetics and Neurogenetics (B.C., D.D.B., C.G., F.T.), and Unit of Neuroradiology (L.F.), Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan; Department of Neurology (T.C.), Azienda Ospedaliera Universitaria Integrata, University Hospital G.B. Rossi, Verona; and University of Milano-Bicocca (E.S.), Monza, Italy.
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Cinzia Gellera
From the Unit of Rare Neurodegenerative and Neurometabolic Diseases (S.F., C.B., D.P., E.S.), Unit of Medical Genetics and Neurogenetics (B.C., D.D.B., C.G., F.T.), and Unit of Neuroradiology (L.F.), Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan; Department of Neurology (T.C.), Azienda Ospedaliera Universitaria Integrata, University Hospital G.B. Rossi, Verona; and University of Milano-Bicocca (E.S.), Monza, Italy.
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Davide Pareyson
From the Unit of Rare Neurodegenerative and Neurometabolic Diseases (S.F., C.B., D.P., E.S.), Unit of Medical Genetics and Neurogenetics (B.C., D.D.B., C.G., F.T.), and Unit of Neuroradiology (L.F.), Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan; Department of Neurology (T.C.), Azienda Ospedaliera Universitaria Integrata, University Hospital G.B. Rossi, Verona; and University of Milano-Bicocca (E.S.), Monza, Italy.
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Franco Taroni
From the Unit of Rare Neurodegenerative and Neurometabolic Diseases (S.F., C.B., D.P., E.S.), Unit of Medical Genetics and Neurogenetics (B.C., D.D.B., C.G., F.T.), and Unit of Neuroradiology (L.F.), Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan; Department of Neurology (T.C.), Azienda Ospedaliera Universitaria Integrata, University Hospital G.B. Rossi, Verona; and University of Milano-Bicocca (E.S.), Monza, Italy.
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Ettore Salsano
From the Unit of Rare Neurodegenerative and Neurometabolic Diseases (S.F., C.B., D.P., E.S.), Unit of Medical Genetics and Neurogenetics (B.C., D.D.B., C.G., F.T.), and Unit of Neuroradiology (L.F.), Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan; Department of Neurology (T.C.), Azienda Ospedaliera Universitaria Integrata, University Hospital G.B. Rossi, Verona; and University of Milano-Bicocca (E.S.), Monza, Italy.
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Citation
Saposin B deficiency as a cause of adult-onset metachromatic leukodystrophy
Silvia Fenu, Barbara Castellotti, Laura Farina, Tiziana Cavallaro, Daniela Di Bella, Chiara Benzoni, Cinzia Gellera, Davide Pareyson, Franco Taroni, Ettore Salsano
Neurology Aug 2019, 93 (7) 310-312; DOI: 10.1212/WNL.0000000000007951

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Metachromatic leukodystrophy (MLD; OMIM #250100) is a panethnic, autosomal recessive disease characterized by intralysosomal accumulation of sulfatides, mainly in oligodendrocytes and Schwann cells. MLD classically presents in childhood, and results from mutations in ARSA gene,1 encoding arylsulfatase A (ARSA), a lysosomal enzyme responsible for sulfatide degradation.

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  • ↵* These authors contributed equally to this work.

  • Go to Neurology.org/N for full disclosures. Funding information and disclosures deemed relevant by the authors, if any, are provided at the end of the article.

  • Received January 24, 2019.
  • Accepted in final form May 16, 2019.
  • © 2019 American Academy of Neurology
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