Cerebral magnetic resonance spectroscopy demonstrates long-term effect of bone marrow transplantation in α-mannosidosis

Else R. Danielsen, Allan M. Lund, Carsten Thomsen

    Publikation: Bidrag til bog/antologi/rapportKapitelForskningpeer review

    Abstrakt

    α-Mannosidosis, OMIM #248500, is an autosomal recessive lysosomal storage disease caused by acidic α-mannosidase deficiency. Treatment options include bone marrow transplantation (BMT) and, possibly in the future, enzyme replacement therapy. Brain magnetic resonance spectroscopy (MRS) enables non-invasive monitoring of cerebral treatment effect. Accumulated cerebral mannose-containing oligosaccharides were demonstrated by MRS in a patient who at age 2 years and 11 months received a BMT from a haploidentical non-carrier sibling. The cerebral mannose-containing oligosaccharides had disappeared as early as 9½ months after BMT. MRS furthermore demonstrated the persistent treatment effect at regular intervals up to 5½ years after BMT. MRS is a non-invasive tool that can demonstrate the effect of BMT treatment. Likewise, MRS may be used to demonstrate the cerebral effect of other potential treatments such as enzyme replacement therapy.

    OriginalsprogEngelsk
    TitelJIMD Reports
    ForlagSpringer
    Sider49-52
    Antal sider4
    DOI
    StatusUdgivet - 1 jan. 2013

    Publikationsserier

    NavnJIMD Reports
    Vol/bind11
    ISSN (Trykt)2192-8304
    ISSN (Elektronisk)2192-8312

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