Autosomal dominant early onset dementia and leukoencephalopathy in a Japanese family: clinical, neuroimaging and genetic studies

Utatsu, Yasuhiko; Takashima, Hiroshi; Michizono, Kumiko; Kanda, Naoaki; Endou, Kouichi; Mitsuyama, Yoshio; Fujimoto, Toshiro; Nagai, Masahiro; Umehara, Fujio; Higuchi, Itsuro; Arimura, Kimiyoshi; Nakagawa, Masanori; Osame, Mitsuhiro

doi:10.1016/s0022-510x(96)05310-5

Cited by 15 publications

(6 citation statements)

References 28 publications

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“…Alternatively, there is the possibility that the causative gene of phenocopies is different from the Notch3 gene. Recent reports suggest a genetic heterogeneity in familial vascular leukoencephalopathy and multi-infarct dementia, and some are not associated to chromosome 19 [29,30]. As in Alzheimer's disease, there seems to be more than one locus for hereditary cerebral encephalopathy.…”

Section: Discussionmentioning

confidence: 99%

Mutations of the Notch3 Gene in Non-Caucasian Patients with Suspected CADASIL Syndrome

Kotorii¹,

Takahashi²,

Kamimura³

et al. 2001

Dement Geriatr Cogn Disord

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The Notch3 gene has been recently identified as a causative gene for cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL). To investigate the genetic contribution of Notch mutations in familial cases with vascular leukoencephalopathy, we screened 13 patients from 11 unrelated families, which were selected on the basis of magnetic resonance imaging findings and positive family history. We identified three different missense mutations in 5 patients from 4 families. Two (Arg90Cys and Arg133Cys) are the same as previously reported in Caucasian patients, the other (Cys174Phe) is a novel mutation causing a loss of a cysteine in epidermal-growth-factor-like repeats of Notch3. These data indicate that the CADASIL Notch3 mutations were found in approximately 35% of familial cases with leukoencephalopathy, suggesting genetic heterogeneity of the disease.

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Section: Discussionmentioning

confidence: 99%

Mutations of the Notch3 Gene in Non-Caucasian Patients with Suspected CADASIL Syndrome

Kotorii¹,

Takahashi²,

Kamimura³

et al. 2001

Dement Geriatr Cogn Disord

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“…Hereditary forms of leukoencephalopathies similar to Binswanger disease 17 as well as other familial variants have previously been described 18–20. These disorders exhibit autosomal dominant dementia, profound white matter lesions, and small arterial granular degeneration.…”

Section: Leukoencephalopathies Features Of Cadasil and Brain Imagingmentioning

confidence: 99%

“…Hereditary forms of leukoencephalopathies similar to Binswanger disease 17 as well as other familial variants have previously been described. [18][19][20] These disorders exhibit autosomal dominant dementia, profound white matter lesions, and small arterial granular degeneration. However, they do not appear to be linked to the NOTCH 3 type of CADASIL strongly implying that a non-NOTCH type of CADASIL or its variant may exist.…”

Section: Leukoencephalopathies Features Of Cadasil and Brain Imagingmentioning

confidence: 99%

Hereditary Vascular Dementia Linked to Notch 3 Mutations: CADASIL in British Families

Thomas

Morris

Salvatore

et al. 2000

Annals of the New York Academy of Sciences

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The most common form of familial vascular dementia is considered to be CADASIL or cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy, which is now also increasingly manifest in the United Kingdom. CADASIL has been previously dubbed as a familial form of Binswanger disease. However, unlike in Binswanger disease CADASIL does not involve hypertension or other risk factors associated with cardiovascular disease. CADASIL appears to be essentially a disorder of the arteries that is linked to single missense mutations in the NOTCH 3 gene locus on chromosome 19. The pathogenesis of the disorder or the genetic mechanism leading to brain infarcts and dementia is not known. The elucidation of the microvascular pathology evident in CADASIL may be an interesting way to delineate effects of defective genes on brain cells from systemic vascular influences.

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“…Cerebroretinal vasculopathy has been reported in a family with a hereditary retinal capillary obliteration and central nervous system vasculopathy [82]. Other hereditary vascular conditions unlinked to Notch3 gene mutations and responsible for cerebral infarcts and WMC have also been identified [83][84][85].…”

Section: Wmc and Other Stroke Subtypes Cerebral Autosomal Dominant Armentioning

confidence: 99%

White Matter Changes in Stroke Patients

Leys

Englund

Ser³

et al. 1999

Eur Neurol

117

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White matter changes (WMC), detected by imaging techniques, are frequent in stroke patients. The aim of the study was to determine how WMC relate to stroke subtypes and to stroke outcome. We made a systematic Medline search for articles appearing with two of the following key words: either ‘WMC or white matter lesions or leukoencephalopathy or leukoaraiosis’ and ‘stroke or cerebral infarct or cerebral hemorrhage or cerebrovascular disease or transient ischemic attack (TIA)’. WMC, as defined radiologically, are present in up to 44% of patients with stroke or TIA and in 50% of patients with vascular dementia. WMC are more frequent in patients with lacunar infarcts, deep intracerebral hemorrhages, cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy and cerebral amyloid angiopathy. After an acute ischemic stroke, WMC are associated with a higher risk of death or dependency, recurrent stroke of any type, cerebral bleeding under anticoagulation, myocardial infarction, and poststroke dementia. WMC in stroke patients are often associated with small-vessel disease and lead to a higher risk of death, and poor cardiac and neurological outcome. However, several questions remain open and need further investigations.

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Autosomal dominant early onset dementia and leukoencephalopathy in a Japanese family: clinical, neuroimaging and genetic studies

Cited by 15 publications

References 28 publications

Mutations of the Notch3 Gene in Non-Caucasian Patients with Suspected CADASIL Syndrome

Mutations of the Notch3 Gene in Non-Caucasian Patients with Suspected CADASIL Syndrome

Hereditary Vascular Dementia Linked to Notch 3 Mutations: CADASIL in British Families

White Matter Changes in Stroke Patients

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