Friedreich's Ataxia Combined with Diabetes Mellitus in Sisters

Ashby, D. W.; Tweedy, P. S.

doi:10.1136/bmj.1.4825.1418

Cited by 21 publications

(7 citation statements)

References 4 publications

(3 reference statements)

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“…). Diabetes onset is often acute, with the patient requiring insulin at diagnosis (Ashby and Tweedy ). In a number of cases, the first presentation of diabetes in Friedreich ataxia was ketoacidosis, which may be fulminant (Hewer ; Bird et al .…”

Section: Diabetes In Patients With Friedreich Ataxiamentioning

confidence: 99%

“…When present, hyperglycemia develops at an average time of 15 years after the onset of the neurological symptoms (Harding 1981;De Michele et al 1996). Diabetes onset is often acute, with the patient requiring insulin at diagnosis (Ashby and Tweedy 1953). In a number of cases, the first presentation of diabetes in Friedreich ataxia was ketoacidosis, which may be fulminant (Hewer 1968;Bird et al 1978).…”

Section: Diabetes In Patients With Friedreich Ataxiamentioning

confidence: 99%

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Diabetes in Friedreich Ataxia

Cnop

Mulder

Igoillo-Esteve

2013

Journal of Neurochemistry

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Diabetes is a common metabolic disorder in patients with Friedreich ataxia. In this Supplement article, we review the clinical data on diabetes in Friedreich ataxia, and the experimental data from rodent and in vitro models of the disease. Increased body adiposity and insulin resistance are frequently present in Friedreich ataxia, but pancreatic b cell dysfunction and death are a conditio sine qua non for the loss of glucose tolerance and development of diabetes. The loss of frataxin function in mitochondria accounts for these pathogenic processes in Friedreich ataxia. Mitochondria are essential for the sensing of nutrients by the b cell and for the generation of signals that trigger and amplify insulin secretion, known as stimulus-secretion coupling. Moreover, in the intrinsic pathway of apoptosis, pro-apoptotic signals converge on mitochondria, resulting in mitochondrial Bax translocation, membrane permeabilization, cytochrome c release and caspase cleavage. How and at which level frataxin deficiency impacts on these processes in b cells is only partially understood. A better understanding of the molecular mechanisms mediating b cell demise in Friedreich ataxia will pave the way for new therapeutic approaches. Keywords: apoptosis, diabetes, Friedreich ataxia, insulin, insulin resistance, pancreatic beta cell. Diabetes in patients with Friedreich ataxiaIt has been known for more than a century that individuals with Friedreich ataxia have an increased risk of developing diabetes. Reported incidence rates vary between 8 and 32%

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Section: Diabetes In Patients With Friedreich Ataxiamentioning

confidence: 99%

Section: Diabetes In Patients With Friedreich Ataxiamentioning

confidence: 99%

Diabetes in Friedreich Ataxia

Cnop

Mulder

Igoillo-Esteve

2013

Journal of Neurochemistry

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“…Apparently, diabetes was not found in the unaffected siblings of the ataxic subjects with diabetes. As Ashby and Tweedy (1953) observed, there was no clear indication as to whether the incidence of diabetes was greater in Friedreich's ataxia, than in the population at large and this could only be settled by a survey of an adequate number of cases of ataxia. Two such surveys have now been reported:…”

Section: Introductionmentioning

confidence: 96%

“…Earlier papers cited individual cases or cases appearing in siblings and, by 1940, Schlezinger and Goldstein had listed 20 cases of Friedreich's ataxia with diabetes. Ashby and Tweedy (1953) reported 2 cases occurring in sisters and cited 2 further cases for a total of 31 by 1953. Several reports of individual cases have since appeared (Podolsky et al, 1964;Joffe et al, 1970).…”

Section: Introductionmentioning

confidence: 99%

Glucose and Insulin Metabolism in Friedreich's Ataxia

Shapcott

Mélancon

Butterworth

et al. 1976

Can. j. neurol. sci.

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SUMMARY:Our prospective survey of 50 ataxic patients confirms the previous finding of frequent clinical or chemical diabetes in Friedreich's ataxia. Eighteen percent of our typical cases have clinical diabetes and 40% at least an abnormal glucose tolerance curve. However, this finding does not appear to be specific to that form of ataxia. Furthermore, we have shown that most patients with ataxia have normal or low fasting insulin levels, but a hyperinsulinic response to a glucose load.

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“…In 1940, Schlezinger and Goldstein in a survey of the literature found 18 reported cases and added two of their own. Ashby and Tweedy (1953) discovered 11 more cases and reported a further pair of siblings. Thoren (1962) was able to discuss a total of 45 cases (five additional ones from the literature and seven of his own).…”

mentioning

confidence: 99%

Diabetes mellitus in Friedreich's ataxia.

Hewer¹,

Robinson²

1968

Journal of Neurology, Neurosurgery & Psychiatry

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The association of diabetes mellitus with Friedreich's ataxia has been reported from time to time. If such an association were firmly established, it could have important implications for the genetic background and possible aetiology of the two diseases.Rossi (1893) The patients were all asked if they had diabetes mellitus or if there were any family history of this. Seven patients were known diabetics (see Table I). Six patients had died by the time the study was finished. The remaining 100 patients were surveyed for evidence of latent diabetes. A preliminary Clinistix test was conducted on the patients who lived at a distance from London, and glucose tolerance tests were performed upon those showing glycosuria. Glucose tolerance tests were also performed on a further 29 cases who lived in or near London.Throughout

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Friedreich's Ataxia Combined with Diabetes Mellitus in Sisters

Cited by 21 publications

References 4 publications

Diabetes in Friedreich Ataxia

Diabetes in Friedreich Ataxia

Glucose and Insulin Metabolism in Friedreich's Ataxia

Diabetes mellitus in Friedreich's ataxia.

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