17q21-22 is associated with which condition?

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Multiple Choice

17q21-22 is associated with which condition?

Mutations at the 17q21-22 region involve the MAPT gene, which encodes the tau protein. Tau helps stabilize microtubules in neurons, and when MAPT is mutated, abnormal tau accumulates and drives a tauopathy. This genetic change particularly leads to frontotemporal dementia, specifically FTDP-17, a hereditary form that predominantly affects the frontal and temporal lobes. So, 17q21-22 is associated with frontotemporal dementia rather than Alzheimer’s disease, Lewy body disease, or other subtypes. Pick disease is a type of frontotemporal dementia, but the classic linkage for this chromosomal region is through MAPT mutations causing FTDP-17, which is why frontotemporal dementia is the best association.

Mutations at the 17q21-22 region involve the MAPT gene, which encodes the tau protein. Tau helps stabilize microtubules in neurons, and when MAPT is mutated, abnormal tau accumulates and drives a tauopathy. This genetic change particularly leads to frontotemporal dementia, specifically FTDP-17, a hereditary form that predominantly affects the frontal and temporal lobes. So, 17q21-22 is associated with frontotemporal dementia rather than Alzheimer’s disease, Lewy body disease, or other subtypes. Pick disease is a type of frontotemporal dementia, but the classic linkage for this chromosomal region is through MAPT mutations causing FTDP-17, which is why frontotemporal dementia is the best association.

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