Presenilin-1 polymorphism and hereditary cerebral hemorrhage with amyloidosis, Dutch type.

[hereditary cerebral hemorrhage with amyloidosis]

Hereditary cerebral hemorrhage with amyloidosis , Dutch type , caused by a mutation at codon 693 of the amyloid beta precursor protein gene , is characterized by amyloid beta deposition resulting in recurrent strokes and dementia . Recent data suggest that presenilin-1 may be biologically linked to cerebral amyloid beta deposition . The intronic presenilin-1 polymorphism published by Wragg and colleagues (1996 ) was analyzed in 65 carriers of the hereditary cerebral hemorrhage with amyloidosis , Dutch type , mutation . We found that the presenilin-1 genotype was not correlated with age at first stroke , number of recurrences , dementia , and age at death or with white matter hyperintensities and focal lesions on magnetic resonance images . From our data we conclude that amyloid beta deposition in this disease is most likely not influenced by presenilin-1 .

Diseases
Validation

Diseases presenting "stroke" symptom

acute rheumatic fever

adrenomyeloneuropathy

alexander disease

alpha-thalassemia

cadasil

cohen syndrome

dedifferentiated liposarcoma

fabry disease

heparin-induced thrombocytopenia

hereditary cerebral hemorrhage with amyloidosis

homocystinuria without methylmalonic aciduria

hydrocephalus with stenosis of the aqueduct of sylvius

kallmann syndrome

locked-in syndrome

malignant atrophic papulosis

neuralgic amyotrophy

sneddon syndrome

thoracic outlet syndrome

werner syndrome

zellweger syndrome

This symptom has already been validated