Klinik: 

Definition: Das Wolfram-Syndrom ist durch Diabetes insipidus, Diabetes mellitus, Optikusatrophie und Taubheit gekennzeichnet. Zwei Gene sind bekannt, über welche die Erkrankung in autosomal rezessiver form übertragen wird. Davon läßt sich eine mitochondrale form abgrenzen.

Literatur: 

Barrientos A et al. (1996) A nuclear defect in the 4p16 region predisposes to multiple mitochondrial DNA deletions in families with Wolfram syndrome.
Barrientos A et al. (1996) A nuclear defect in the 4p16 region predisposes to multiple mitochondrial DNA deletions in families with Wolfram syndrome.
Borgna-Pignatti C et al. (1989) Thiamine-responsive anemia in DIDMOAD syndrome.
Bretz GW et al. (1970) Coexistence of diabetes mellitus and insipidus and optic atrophy in two male siblings. Studies and review of literature.
Cano A et al. (2007) Identification of novel mutations in WFS1 and genotype-phenotype correlation in Wolfram syndrome.
Collier DA et al. (1996) Linkage of Wolfram syndrome to chromosome 4p16.1 and evidence for heterogeneity.
Eiberg H et al. (2006) Autosomal dominant optic atrophy associated with hearing impairment and impaired glucose regulation caused by a missense mutation in the WFS1 gene.
El-Shanti H et al. (2000) Homozygosity mapping identifies an additional locus for Wolfram syndrome on chromosome 4q.
Fraser FC et al. (1977) Diabetes mellitus, diabetes insipidus, and optic atrophy. An autosomal recessive syndrome?
Friedman E et al. (1986) A variant of the "DIDMOAD" syndrome (diabetes insipidus, diabetes mellitus, optic atrophy and deafness).
Gabreëls BA et al. (1998) The vasopressin precursor is not processed in the hypothalamus of Wolfram syndrome patients with diabetes insipidus: evidence for the involvement of PC2 and 7B2.
Gossain VV et al. (1975) Co-existent diabetes mellitus and diabetes insipidus, a familial disease.
Gunn T et al. (1976) Juvenile diabetes mellitus, optic atrophy, sensory nerve deafness, and diabetes insipidus--a syndrome.
Hansen L et al. (2005) Mutation analysis of the WFS1 gene in seven Danish Wolfram syndrome families; four new mutations identified.
Hardy C et al. (1999) Clinical and molecular genetic analysis of 19 Wolfram syndrome kindreds demonstrating a wide spectrum of mutations in WFS1.
Hurley PJ et al. (1967) Histiocytosis x and double diabetes.
Ikkos DG et al. (1970) Association of juvenile diabetes mellitus, primary optic atrophy and perceptive hearing loss in three sibs, with additional idiopathic diabetes mellitus insipidus in one case.
Inoue H et al. (1998) A gene encoding a transmembrane protein is mutated in patients with diabetes mellitus and optic atrophy (Wolfram syndrome).
Khanim F et al. (2001) WFS1/wolframin mutations, Wolfram syndrome, and associated diseases.
Medlej R et al. (2004) Diabetes mellitus and optic atrophy: a study of Wolfram syndrome in the Lebanese population.
Niemeyer G et al. (1972) Retinal function in an unique syndrome of optic atrophy, juvenile diabetes mellitus, diabetes insipidus, neurosensory hearing loss, autonomic dysfunction, and hyperalanineuria.
Page MM et al. (1976) Recessive inheritance of diabetes: the syndrome of diabetes insipidus, diabetes mellitus, optic atrophy and deafness.
Peden NR et al. (1986) Wolfram (DIDMOAD) syndrome: a complex long-term problem in management.
Pilley SF et al. (1976) Familial syndrome of diabetes insipidus, diabetes mellitus, optic atrophy, and deafness (didmoad) in childhood.
Polymeropoulos MH et al. (1994) Linkage of the gene for Wolfram syndrome to markers on the short arm of chromosome 4.
RAITI S et al. (1963) DIABETES MELLITUS AND INSIPIDUS IN TWO SISTERS.
Rando TA et al. (1992) Wolfram syndrome: evidence of a diffuse neurodegenerative disease by magnetic resonance imaging.
Richardson JE et al. (1977) Diabetes insipidus, diabetes mellitus, optic atrophy, and deafness. 3 cases of 'DIDMOAD' syndrome.
Rorsman G et al. (1967) Optic atrophy and juvenile diabetes mellitus with familial occurrence.
Rose FC et al. (1966) The association of juvenile diabetes mellitus and optic atrophy: clinical and genetical aspects.
Rötig A et al. (1993) Deletion of mitochondrial DNA in a case of early-onset diabetes mellitus, optic atrophy, and deafness (Wolfram syndrome, MIM 222300).
Rötig A et al. (1993) Deletion of mitochondrial DNA in a case of early-onset diabetes mellitus, optic atrophy, and deafness (Wolfram syndrome, MIM 222300).
Salih MA et al. (1991) Diabetes insipidus, diabetes mellitus, optic atrophy and deafness (DIDMOAD syndrome). A clinical study in two Sudanese families.
Sam W et al. (2001) Homozygosity for a 4-bp deletion in a patient with Wolfram syndrome suggesting possible phenotype and genotype correlation.
Sauer H et al. (1973) [Familial syndrome of diabetes mellitus, primary optic nerve atrophy and inner-ear deafness]
Scolding NJ et al. (1996) Wolfram syndrome: hereditary diabetes mellitus with brainstem and optic atrophy.
SHAW DA et al. (1958) Optic atrophy and nerve deafness in diabetes mellitus.
Stevens PR et al. (1972) Familial incidence of juvenile diabets mellitus, progressive optic atrophy, and neurogenic deafness.
Strom TM et al. (1998) Diabetes insipidus, diabetes mellitus, optic atrophy and deafness (DIDMOAD) caused by mutations in a novel gene (wolframin) coding for a predicted transmembrane protein.
Swift RG et al. (1991) Psychiatric disorders in 36 families with Wolfram syndrome.
Swift RG et al. (1998) Predisposition of Wolfram syndrome heterozygotes to psychiatric illness.
Swift RG et al. (1990) Psychiatric findings in Wolfram syndrome homozygotes.
Wit JM et al. (1986) Documented vasopressin deficiency in a child with Wolfram syndrome.
Amr S et al. (2007) A homozygous mutation in a novel zinc-finger protein, ERIS, is responsible for Wolfram syndrome 2.
Chen YF et al. (2009) Cisd2 deficiency drives premature aging and causes mitochondria-mediated defects in mice.
El-Shanti H et al. (2000) Homozygosity mapping identifies an additional locus for Wolfram syndrome on chromosome 4q.
Barrientos A et al. (1996) A nuclear defect in the 4p16 region predisposes to multiple mitochondrial DNA deletions in families with Wolfram syndrome.
Bundey S et al. (1992) Mitochondrial abnormalities in the DIDMOAD syndrome.
Domènech E et al. (2004) Study of the WFS1 gene and mitochondrial DNA in Spanish Wolfram syndrome families.
Hofmann S et al. (1997) Wolfram (DIDMOAD) syndrome and Leber hereditary optic neuropathy (LHON) are associated with distinct mitochondrial DNA haplotypes.
Pilz D et al. (1994) Mitochondrial mutation commonly associated with Leber's hereditary optic neuropathy observed in a patient with Wolfram syndrome (DIDMOAD).
Rötig A et al. (1993) Deletion of mitochondrial DNA in a case of early-onset diabetes mellitus, optic atrophy, and deafness (Wolfram syndrome, MIM 222300).
Rötig A et al. (1993) Deletion of mitochondrial DNA in a case of early-onset diabetes mellitus, optic atrophy and deafness (DIDMOAD, Wolfram syndrome).