DIAG: Pelizaeus syndrome

[Carlo Gambacorti <GAMBACORTI@icil64.cilea.it>]

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           HUM-MOLGEN  DIAGnostics/Clinical Research
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This DIAG message contains 1 submessage(s):

1)      Pelizaeus-Merzbacher disease



  Carlo Gambacorti MD, Editor,
  Human Molecular Genetics network
  Diagnostics/Clinical Research Section


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    Dear Colleague,

    We have identified a pair of brothers with Pelizaeus-Merzbacher
    disease. The diagnosis is based on the classical clinical features and
    an absence of central myelination in one brother who has died. An MRI of
    the surviving brother has not been obtained.

    Is anyone interested in obtaining blood or DNA from the surviving boy
    for mutation studies of the PLP gene? We would appreciate molecular
    analysis to aid genetic counselling.

    We would also value comments re the accuracy of MRI for identifying
    carriers. We are aware of the paper by Boltshauser et al (Hum Genet
    80:393-394, 1988). What has your experience been?

    Yours sincerely,

    Graeme Suthers
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    Dr Graeme Suthers                  tel   (int)-61-8-204 7375
    SA Clinical Genetics Service       fax   (int)-61-8-204 6088
    Centre for Medical Genetics        gsuthers@medicine.adelaide.edu.au
    Women's & Children's Hospital
    North Adelaide SA 5006  AUSTRALIA
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