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Hereditary frontotemporal dementia(HFTD)is a rare autosomal dominant form of presenile dementia characterized by behavioral changes and reduced speech.Three multigeneration kindreds with this condition,in the Netherlands,were investigated for clinicopathological comparison and linkage analysis.Frontotemporal atrophy on computed tomographic scanning and/or magnetic resonance imaging was usually present.Single-photon emission computed tomography(SPECT)showed frontal hypoperfusion in the early phase of the disease.Brain tissue showed moderate to severe atrophy of frontal and temporal cortex with neuronal loss,gliosis,and spongiosis. Pick bodies were lacking in all cases of the 3 families.The mean age of onset varied significantly between families.We report here evidence for linkage to chromosome 17q21-q22 with a maximum lod score of 4.70 at 0=0.05 with the marker D17S932.Recombination analysis positions the gene for HFTD in a region of approximately 5 cM between markers D17S946 and D17S91.Three other neurodegenerative disorders with a strong clinical and pathological resemblance have recently been mapped to the same chromosomal region, suggesting that a group of clinically related neurodegenerative disorders may originate from mutations in the same gene. |
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behavioral disorder
CAT scan
CAT scan,abnormal
chromosomal abnormality
chromosome 17
dementia
dementia,familial
dementia,frontal lobe type
dementia,frontotemporal
dementia,presenile
familial
Kluver-Bucy syndrome
lobar atrophy
misdiagnosis
MRI
MRI,abnormal
mutism
neuropathology
perseveration
personality change
psychiatric problems in neurologic disorders
release phenomena
single photon emission computed tomography
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