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Subcortical angiopathic encephalopathy in a German kindred suggests an autosomal dominant disorder distinct from CADASIL

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Subcortical angiopathic encephalopathy in a German kindred suggests an autosomal dominant disorder distinct from CADASIL. / Hagel, C; Groden, C; Niemeyer, R; Stavrou, D; Colmant, H J.

In: ACTA NEUROPATHOL, Vol. 108, No. 3, 09.2004, p. 231-40.

Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

Harvard

Hagel, C, Groden, C, Niemeyer, R, Stavrou, D & Colmant, HJ 2004, 'Subcortical angiopathic encephalopathy in a German kindred suggests an autosomal dominant disorder distinct from CADASIL', ACTA NEUROPATHOL, vol. 108, no. 3, pp. 231-40. https://doi.org/10.1007/s00401-004-0887-2

APA

Hagel, C., Groden, C., Niemeyer, R., Stavrou, D., & Colmant, H. J. (2004). Subcortical angiopathic encephalopathy in a German kindred suggests an autosomal dominant disorder distinct from CADASIL. ACTA NEUROPATHOL, 108(3), 231-40. https://doi.org/10.1007/s00401-004-0887-2

Vancouver

Hagel C, Groden C, Niemeyer R, Stavrou D, Colmant HJ. Subcortical angiopathic encephalopathy in a German kindred suggests an autosomal dominant disorder distinct from CADASIL. ACTA NEUROPATHOL. 2004 Sep;108(3):231-40. https://doi.org/10.1007/s00401-004-0887-2

Bibtex

@article{8656c76677dc4b1bb9e36beab638b3d8,
title = "Subcortical angiopathic encephalopathy in a German kindred suggests an autosomal dominant disorder distinct from CADASIL",
abstract = "A cerebral arteriopathy with subcortical infarcts and leukoencephalopathy is described with a pedigree suggestive for an autosomal dominant condition. In contrast to the vasculopathy designated with the acronym CADASIL, no deposits of granular osmiophilic material were detected in the vasculature and no point mutations in the NOTCH 3 gene were found. The disease occurred in a family living near Hamburg, Germany, and affected 11 women and 11 men over the last six generations. Onset of the disease was between the age of 12 and 50. Clinical symptoms included gait disturbances, dysarthria, sensomotoric deficits and a progressive dementia. Migraine-like complaints and epileptic seizures were observed in one case each. Cranial computer tomography and magnetic resonance imaging scans showed large confluent areas with decreased density in the white matter and small necroses in the brain stem, the basal ganglia and the white matter. A correlation with factors predisposing for vascular diseases could not be demonstrated. In five cases an autopsy was performed which disclosed an angiopathy affecting predominantly the penetrating arteries with consecutive lacunar infarcts, diffuse demyelination and rarefication of the subcortical white matter and degeneration of the pyramidal tracts. Histologically, the vessels showed concentric and excentric intimal proliferation, an elastosis and hyalinosis, splitting of the lamina elastica interna and a degeneration of the tunica muscularis. Electron microscopy revealed fragmentation and thickening of the basal lamina but electron-dense granules characteristic for CADASIL were not detected.",
keywords = "Adult, Age of Onset, Brain/pathology, Child, Dementia, Multi-Infarct/pathology, Dementia, Vascular/diagnosis, Diagnosis, Differential, Female, Germany, Humans, Immunohistochemistry, Magnetic Resonance Imaging, Male, Microscopy, Electron, Middle Aged, Pedigree, Polymerase Chain Reaction, Proto-Oncogene Proteins/genetics, Receptors, Cell Surface/genetics, Tomography, X-Ray Computed",
author = "C Hagel and C Groden and R Niemeyer and D Stavrou and Colmant, {H J}",
year = "2004",
month = sep,
doi = "10.1007/s00401-004-0887-2",
language = "English",
volume = "108",
pages = "231--40",
journal = "ACTA NEUROPATHOL",
issn = "0001-6322",
publisher = "Springer",
number = "3",

}

RIS

TY - JOUR

T1 - Subcortical angiopathic encephalopathy in a German kindred suggests an autosomal dominant disorder distinct from CADASIL

AU - Hagel, C

AU - Groden, C

AU - Niemeyer, R

AU - Stavrou, D

AU - Colmant, H J

PY - 2004/9

Y1 - 2004/9

N2 - A cerebral arteriopathy with subcortical infarcts and leukoencephalopathy is described with a pedigree suggestive for an autosomal dominant condition. In contrast to the vasculopathy designated with the acronym CADASIL, no deposits of granular osmiophilic material were detected in the vasculature and no point mutations in the NOTCH 3 gene were found. The disease occurred in a family living near Hamburg, Germany, and affected 11 women and 11 men over the last six generations. Onset of the disease was between the age of 12 and 50. Clinical symptoms included gait disturbances, dysarthria, sensomotoric deficits and a progressive dementia. Migraine-like complaints and epileptic seizures were observed in one case each. Cranial computer tomography and magnetic resonance imaging scans showed large confluent areas with decreased density in the white matter and small necroses in the brain stem, the basal ganglia and the white matter. A correlation with factors predisposing for vascular diseases could not be demonstrated. In five cases an autopsy was performed which disclosed an angiopathy affecting predominantly the penetrating arteries with consecutive lacunar infarcts, diffuse demyelination and rarefication of the subcortical white matter and degeneration of the pyramidal tracts. Histologically, the vessels showed concentric and excentric intimal proliferation, an elastosis and hyalinosis, splitting of the lamina elastica interna and a degeneration of the tunica muscularis. Electron microscopy revealed fragmentation and thickening of the basal lamina but electron-dense granules characteristic for CADASIL were not detected.

AB - A cerebral arteriopathy with subcortical infarcts and leukoencephalopathy is described with a pedigree suggestive for an autosomal dominant condition. In contrast to the vasculopathy designated with the acronym CADASIL, no deposits of granular osmiophilic material were detected in the vasculature and no point mutations in the NOTCH 3 gene were found. The disease occurred in a family living near Hamburg, Germany, and affected 11 women and 11 men over the last six generations. Onset of the disease was between the age of 12 and 50. Clinical symptoms included gait disturbances, dysarthria, sensomotoric deficits and a progressive dementia. Migraine-like complaints and epileptic seizures were observed in one case each. Cranial computer tomography and magnetic resonance imaging scans showed large confluent areas with decreased density in the white matter and small necroses in the brain stem, the basal ganglia and the white matter. A correlation with factors predisposing for vascular diseases could not be demonstrated. In five cases an autopsy was performed which disclosed an angiopathy affecting predominantly the penetrating arteries with consecutive lacunar infarcts, diffuse demyelination and rarefication of the subcortical white matter and degeneration of the pyramidal tracts. Histologically, the vessels showed concentric and excentric intimal proliferation, an elastosis and hyalinosis, splitting of the lamina elastica interna and a degeneration of the tunica muscularis. Electron microscopy revealed fragmentation and thickening of the basal lamina but electron-dense granules characteristic for CADASIL were not detected.

KW - Adult

KW - Age of Onset

KW - Brain/pathology

KW - Child

KW - Dementia, Multi-Infarct/pathology

KW - Dementia, Vascular/diagnosis

KW - Diagnosis, Differential

KW - Female

KW - Germany

KW - Humans

KW - Immunohistochemistry

KW - Magnetic Resonance Imaging

KW - Male

KW - Microscopy, Electron

KW - Middle Aged

KW - Pedigree

KW - Polymerase Chain Reaction

KW - Proto-Oncogene Proteins/genetics

KW - Receptors, Cell Surface/genetics

KW - Tomography, X-Ray Computed

U2 - 10.1007/s00401-004-0887-2

DO - 10.1007/s00401-004-0887-2

M3 - SCORING: Journal article

C2 - 15221337

VL - 108

SP - 231

EP - 240

JO - ACTA NEUROPATHOL

JF - ACTA NEUROPATHOL

SN - 0001-6322

IS - 3

ER -