Electronic letter
Wolfram syndrome: a clinical and molecular genetic analysis
Philipp Eller, Bernhard Föger, Roland Gander, Teresa Sauper, Monika Lechleitner, Gerd Finkenstedt, Josef R PatschDepartment of
Medicine, Anichstrasse 35, A-6020 Innsbruck, Austria
Correspondence to: Dr Föger, bernhard.foeger@uibk.ac.at
| The first 150 words of the full text of this article appear below. |
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Introduction |
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EDITOR
Wolfram syndrome (OMIM 222300) is a
progressive neurodegenerative disorder characterised by the association
of juvenile, non-autoimmune, insulin dependent diabetes mellitus and
optic atrophy. The physician D J Wolfram, who reported four cases in 1938, is credited with the first description.1 With the
identification of other clinical features, Wolfram syndrome was also
referred to as DIDMOAD syndrome (diabetes
insipidus, diabetes mellitus, optic atrophy and deafness). The
initial manifestation of Wolfram syndrome is typically, but not
invariably, insulin deficient diabetes mellitus at a median age of 6 years, followed by optic atrophy at 11 years.2 In the
second decade, many patients develop central diabetes insipidus and
sensorineural deafness. Additional, but less frequent neurological and
endocrinological abnormalities are atonic bladder, ataxia, myoclonus,
peripheral neuropathy, hypogonadism, and a relatively high incidence of
depression and psychotic behaviour.3-5 Death occurs
between 25 and 49 years (median 30 years).
The prevalence of
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