Pure Early-Onset Dementia Without Bone Cysts

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WHO-ICD-10 version:2010

Mental and behavioural disorders

Mode of Inheritance

Autosomal recessive

Gene Map Locus

6p21.1

Description

Pure Early-Onset Dementia Without Bone Cysts, is , as the name suggests, a disorder of progressive early onset dementia. Mutations in the TREM2 gene have been shown to be causal for this condition. However, affected patient do not show any osseous changes, which markes the difference from the condition, Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy. 

Epidemiology in the Arab World

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Subject IDCountrySexFamily HistoryParental ConsanguinityHPO TermsVariantZygosityMode of InheritanceReferenceRemarks
605086.1.1LebanonFemaleYesYes Dementia; Severe; Young adult onset; ...NM_018965.4:c.40+4_40+6delHomozygousAutosomal, RecessiveChouery et al, 2008
605086.1.2LebanonFemaleYesYes Dementia; Severe; Young adult onset;...NM_018965.4:c.40+4_40+6delHomozygousAutosomal, RecessiveChouery et al, 2008 Sibling of 605086.1....
605086.1.3LebanonMaleYesYes Dementia; Severe; Young adult onset; ...NM_018965.4:c.40+4_40+6delHomozygousAutosomal, RecessiveChouery et al, 2008 Sibling of 605086.1....
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