Behavioral disturbances without amyloid deposits in mice overexpressing human amyloid precursor protein with Flemish (A692G) or Dutch (E693Q) mutation.

[hereditary cerebral hemorrhage with amyloidosis]

The contribution of mutations in the amyloid precursor protein (APP ) gene known as Flemish (APP /A 692 G ) and Dutch (APP /E 693 Q ) to the pathogenesis of Alzheimer 's disease and hereditary cerebral hemorrhage with amyloidosis of the Dutch type , respectively , was studied in transgenic mice that overexpress the mutant APP in brain . These transgenic mice showed the same early behavioral disturbances and defects and increased premature death as the APP /London (APP V 717 I ), APP /Swedish (K 670 N , M 671 L ), and other APP transgenic mice described previously . Pathological changes included intense glial reaction , extensive microspongiosis in the white matter , and apoptotic neurons in select areas of the brain , while amyloid deposits were absent , even in mice over 18 months of age . This contrasts with extensive amyloid deposition in APP /London transgenic mice and less pronounced amyloid deposition in APP /Swedish transgenic mice generated identically . It demonstrated , however , that the behavioral deficiencies and the pathological changes in brain resulting from an impaired neuronal function are caused directly by APP or its proteolytic derivative (s ). These accelerate or impinge on the normal process of aging and amyloid deposits per se are not essential for this phenotype .

Diseases
Validation

Diseases presenting "respectively" symptom

adrenal incidentaloma

allergic bronchopulmonary aspergillosis

alpha-thalassemia

benign recurrent intrahepatic cholestasis

carcinoma of the gallbladder

congenital adrenal hyperplasia

congenital diaphragmatic hernia

congenital toxoplasmosis

cushing syndrome

cystinuria

dedifferentiated liposarcoma

dentin dysplasia

dentinogenesis imperfecta

epidermolysis bullosa simplex

esophageal squamous cell carcinoma

familial hypocalciuric hypercalcemia

harlequin ichthyosis

hereditary cerebral hemorrhage with amyloidosis

hirschsprung disease

hodgkin lymphoma, classical

holt-oram syndrome

kallmann syndrome

lamellar ichthyosis

liposarcoma

neonatal adrenoleukodystrophy

neuralgic amyotrophy

oculocutaneous albinism

oligodontia

oral submucous fibrosis

pendred syndrome

pleomorphic liposarcoma

primary effusion lymphoma

proteus syndrome

pyruvate dehydrogenase deficiency

scrub typhus

triple a syndrome

von hippel-lindau disease

well-differentiated liposarcoma

wolf-hirschhorn syndrome

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