Cataract, Deafness, Cerebellar Ataxia, Psychosis and Dementia-a New Syndrome

Strömgren, Erik; Landmark, Anne Marie Dalby; Dalby, M. A.; Ranheim, Bjarne

doi:10.1111/j.1600-0404.1970.tb02219.x

Cited by 32 publications

(25 citation statements)

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“…Further, FDD and AD produce similar amyloid deposits that are made of short peptides generated in the brain by internal proteolysis of precursor proteins. FDD is characterized by a gradual loss of vision and dementia, among many other symptoms, and the loss of vision is mainly due to posterior subcapsular cataract and retinal neovascularization (24,30). Recent studies indicate visual defects involving the lens and the retina during the development of AD (31,32).…”

Section: Discussionmentioning

confidence: 99%

“…familial British dementias and familial Danish dementias (FBDs and FDDs) (21,22). While the onset of FBD usually occurs in the fifth decade of life with progressive dementia, spasticity, and ataxia, the onset of FDD ensues earlier, before 30 years of age, with cataracts and visual loss followed by impaired hearing, progressive cerebellar ataxia, and late dementia (22)(23)(24). Histological signatures of FDD are cerebral amyloid angiopathy, parenchymal protein deposits, and neurofibrillary degeneration (22,(25)(26)(27).…”

Section: Introductionmentioning

confidence: 99%

“…FDD is also known as heredootoophthalmo-encephalopathy (HOOE). HOOE/FDD is a dominantly inherited syndrome clinically characterized by a gradual loss of vision, deafness, progressive ataxia, and dementia (24,30). Retinal neovascularization and posterior subscapular cataract in FDD cause visual loss in FDD.…”

Section: Introductionmentioning

confidence: 99%

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Alzheimer’s and Danish dementia peptides induce cataract and perturb retinal architecture in rats

Reddy

Surolia

2017

Biomolecular Concepts

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Familial Danish dementias (FDDs) are autosomal dominant neurodegenerative disorders that are associated with visual defects. In some aspects, FDD is similar to Alzheimer's disease (AD)-the amyloid deposits in FDD and AD are made of short peptides: amyloid β (Aβ) in AD and ADan in FDD. Previously, we demonstrated an inter action between the dementia peptides and α-crystallin leading to lens opacification in organ culture due to impaired chaperone activity of α-crystallin. Herein, we report the in vivo effects of ADan and Aβ on the eye. ADan [reduced (ADan-red) and oxidized (ADan-oxi)] and Aβ (Aβ1-40 and Aβ1-42) were injected intravitreally in rats. The onset of cataract was seen after injection of all the peptides, but the cataract matured by 2 weeks in the case of ADan-red, 5 weeks for ADan-oxi and 6 weeks for Aβ1-40, while Aβ1-42 had minimal effect on cataract progression. The severity of cataract is associated with insolubilization and alterations in crystallins and loss of chaperone activity of α-crystallin. Further, disruption of the architecture of the retina was evident from a loss of rhodopsin, increased gliosis, and the thinning of the retina. These results provide a basis for the dominant heredo-otoophthalmo-encephalopathy (HOOE)/FDD syndrome and indicate that ADan peptides are more potent than Aβ peptides in inflicting visual impairment.

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Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

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Alzheimer’s and Danish dementia peptides induce cataract and perturb retinal architecture in rats

Reddy

Surolia

2017

Biomolecular Concepts

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“…The disease was named heredopathia ophthalmo-oto-encephalica (Strömgren et al 1970) or FDD (Vidal et al 2000b). Clinically, FDD is characterized by the development and progression of cataracts during the third decade of life (Strömgren et al 1970).…”

Section: Familial British and Danish Dementiamentioning

confidence: 99%

“…Two early onset autosomal dominant diseases first reported by Worster-Drought et al (1933) and Strömgren et al (1970) are known as familial British dementia (FBD) and familial Danish dementia (FDD), respectively (Vidal et al 1999(Vidal et al , 2000b. These diseases are characterized clinically by gradually progressive dementia and ataxia and neuropathologically by amyloid angiopathy and neurofibrillary tangles (NFTs) in the hippocampus.…”

Section: Introductionmentioning

confidence: 99%

Modeling familial British and Danish dementia

et al. 2009

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Familial British dementia (FBD) and familial Danish dementia (FDD) are two autosomal dominant neurodegenerative diseases caused by mutations in the BRI ( 2 ) gene. FBD and FDD are characterized by widespread cerebral amyloid angiopathy (CAA), parenchymal amyloid deposition, and neurofibrillary tangles. Transgenic mice expressing wild-type and mutant forms of the BRI(2) protein, Bri ( 2 ) knock-in mutant mice, and Bri ( 2 ) gene knock-out mice have been developed. Transgenic mice expressing a human FDD-mutated form of the BRI ( 2 ) gene have partially reproduced the neuropathological lesions observed in FDD. These mice develop extensive CAA, parenchymal amyloid deposition, and neuroinflammation in the central nervous system. These animal models allow the study of the molecular mechanism(s) underlying the neuronal dysfunction in these diseases and allow the development of potential therapeutic approaches for these and related neurodegenerative conditions. In this review, a comprehensive account of the advances in the development of animal models for FBD and FDD and of their relevance to the study of Alzheimer disease is presented.

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Congenital cataracts facial dysmorphism neuropathy syndrome, a novel complex genetic disease in Balkan gypsies: Clinical and electrophysiological observations

et al. 1999

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During a study of hereditary motor and sensory neuropathy‐Lom in Bulgaria, a previously unrecognized neurological disorder was encountered, mainly in Wallachian Gypsies, who represent a relatively recent genetic isolate. The disorder has been termed the congenital cataracts facial dysmorphism neuropathy (CCFDN) syndrome to emphasize its salient features. Fifty individuals from 19 extended pedigrees were identified and examined clinically and electrophysiologically. At least 1 patient from each family was admitted to the hospital in Sofia for full investigation. Pedigree analysis indicates autosomal recessive inheritance. The disorder is recognized in infancy by the presence of congenital cataracts and microcorneas. A predominantly motor neuropathy beginning in the lower limbs and later affecting the upper limbs develops during childhood and leads to severe disability by the third decade. Associated neurological features are a moderate nonprogressive cognitive deficit in most affected individuals together with pyramidal signs and mild chorea in some. Accompanying nonneurological features include short stature, characteristic facial dysmorphism, and hypogonadotrophic hypogonadism. Nerve conduction studies suggest a hypomyelinating/demyelinating neuropathy, confirmed by nerve biopsy. The CCFDN syndrome is thus a pleomorphic autosomal recessive disorder displaying a combination of neurological and nonneurological features. Ann Neurol 1999;45:742–750

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Cataract, Deafness, Cerebellar Ataxia, Psychosis and Dementia-a New Syndrome

Cited by 32 publications

References 0 publications

Alzheimer’s and Danish dementia peptides induce cataract and perturb retinal architecture in rats

Alzheimer’s and Danish dementia peptides induce cataract and perturb retinal architecture in rats

Modeling familial British and Danish dementia

Congenital cataracts facial dysmorphism neuropathy syndrome, a novel complex genetic disease in Balkan gypsies: Clinical and electrophysiological observations

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