The Kallmann's syndrome variant (KSV) model of the schizophrenias

Cowen, Murray A.; Green, Maurice

doi:10.1016/0920-9964(93)90002-z

Cited by 15 publications

(10 citation statements)

References 85 publications

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“…Associations have been proposed between KS and both mental retardation (Kallmann et al ., 1944; Obaydi et al ., 1992) and schizophrenia (Cowen & Green, 1993). Although specific psychometric testing was not performed in this series, only four IHH subjects ( n = 3 KS) had empirical evidence of cognitive impairment, requiring special schooling or being unable to live and work independently in the community, and the single schizophrenic patient was normosmic.…”

Section: Resultsmentioning

confidence: 99%

Idiopathic gonadotrophin deficiency: genetic questions addressed through phenotypic characterization*

Quinton

Duke

Robertson

et al. 2001

Clinical Endocrinology

213

168

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Patients with IHH are almost invariably either anosmic (KS) or normosmic (nIHH), rather than exhibiting intermediate degrees of olfactory deficit. Moreover, the prevalence of cryptorchidism is nearly three times greater in KS than in nIHH despite comparable testicular volumes, suggesting a primary defect of testicular descent in KS independent of gonadotrophin deficiency. Disorders of eye movement and hearing appear only to occur in association with KS. Taken together, these findings indicate a clear phenotypic separation between KS and nIHH. However, pedigree studies suggest that autosomal KS is an heterogeneous condition, with incomplete phenotypic penetrance within pedigrees, and that some cases of autosomal KS, nIHH and even isolated anosmia are likely to have a common genetic basis. The prevalences of anosmia, mirror movements and unilateral renal agenesis among X-KS men are estimated to be 100, 85 and 31%, respectively. In sporadic IHH, mirror movements and unilateral renal agenesis are 100% specific phenotypic markers of de novo X-KS. By comparison, only 7/10 X-KS families harboured KAL coding defects. Clinical ascertainment, using mirror movements, renal agenesis and ichthyosis as X-KS-specific phenotypic markers, suggested that de novo X-KS was unlikely to comprise more than 11% of sporadic cases. The majority of sporadic KS cases are therefore presumed to have an autosomal basis and, hence, the preponderance of affected KS males over females remains unexplained, though reduced penetrance in women would be a possibility.

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Section: Resultsmentioning

confidence: 99%

Idiopathic gonadotrophin deficiency: genetic questions addressed through phenotypic characterization*

Quinton

Duke

Robertson

et al. 2001

Clinical Endocrinology

213

168

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“…Franz Josef Kallmann 57,58 was one of the first psychiatrists to study the genetic basis of mental disorders, and he reported some cases of schizophrenia and mental retardation in individuals with this syndrome. More recently, Cowen and Green 59 have drawn attention to some parallels between schizophrenia and Kallmann's syndrome, including the fact that olfactory dysfunctions (that is, smell identification deficits) are present in a subgroup of patients with schizophrenia. 60 Versiani et al 61 also confirm the association of Kallmann's syndrome and schizophrenia, and abnormalities of cognition and behavior such as learning disabilities.…”

Section: Chromosome 8p Neuropsychiatric Disorders and Cancermentioning

confidence: 99%

Chromosome 8p as a potential hub for developmental neuropsychiatric disorders: implications for schizophrenia, autism and cancer

Tabarés‐Seisdedos

Rubenstein²

2009

Mol Psychiatry

216

157

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“…In line with the hypothesis as forwarded by Cowen and Green,18 Vagenakis and co-workers postulated that, given the similarities in occurrence ratio and sex difference in KS and schizophrenia, minor defects in the KAL1 gene might increase the vulnerability for schizophrenia. No additional data, however, are available to substantiate this idea of a KS-variant model of schizophrenia, as was also reported by O'Neill et al 19 who studied nine unrelated males with schizophrenia who had also sever anosmia.…”

Section: Discussionmentioning

confidence: 86%

Kallmann syndrome and paranoid schizophrenia: a rare combination

et al. 2013

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Kallmann syndrome (KS) is a genetically heterogeneous and rare disorder characterised by the combination of hypothalamic hypogonadism and anosmia/hyposmia, a variable degree of intellectual disability and several somatic anomalies. In about one-third of the patients, mutations have been identified in at least seven different genes. Virtually no data are available about possible neuropsychiatric symptoms in KS. Here, a young adult male is described with a previous clinical diagnosis of KS and recent paranoid schizophrenia of which positive, but not negative symptoms, fully remitted upon treatment with antipsychotics. Neither genome-wide array analysis nor mutation analyses disclosed imbalances or mutations in any of presently known KS disease genes. This is the first report on a patient with KS and paranoid schizophrenia in whom extensive genetic analyses were performed. It is concluded that further studies are warranted in order to elucidate a possible increased risk for psychiatric symptoms in patients with KS.

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The Kallmann's syndrome variant (KSV) model of the schizophrenias

Cited by 15 publications

References 85 publications

Idiopathic gonadotrophin deficiency: genetic questions addressed through phenotypic characterization*

Idiopathic gonadotrophin deficiency: genetic questions addressed through phenotypic characterization*

Chromosome 8p as a potential hub for developmental neuropsychiatric disorders: implications for schizophrenia, autism and cancer

Kallmann syndrome and paranoid schizophrenia: a rare combination

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