{Reference Type}: Journal Article
{Title}: A novel MAPT variant (E342K) as a cause of familial progressive supranuclear palsy.
{Author}: Li H;Li Q;Weng Q;Cui R;Yen TC;Li Y;
{Journal}: Front Neurol
{Volume}: 15
{Issue}: 0
{Year}: 2024
{Factor}: 4.086
{DOI}: 10.3389/fneur.2024.1372507
{Abstract}: <B>UNASSIGNED: </B>MAPT variants are a known cause of frontotemporal dementia and Parkinsonian syndrome, of which progressive supranuclear palsy syndrome (PSP) is a rare manifestation.<BR><B>UNASSIGNED: </B>To report a novel MAPT variant in a PSP pedigree with autosomal dominant inheritance pattern, and to produce a literature review of PSP patients with MAPT variants.<BR><B>UNASSIGNED: </B>A comprehensive clinical, genetic, and molecular neuroimaging investigation was conducted on a 61 years-old female proband diagnosed with PSP. We also collected the clinical presentation data and history of the patient's pedigree, and performed further genetic analysis of 4 relatives, from two generations, with and without symptoms.<BR><B>UNASSIGNED: </B>The proband exhibited typical clinical manifestation of PSP. A cranial MRI revealed midbrain atrophy, and an FDG-PET scan suggested hypo-metabolic changes in caudate nucleus, left prefrontal lobe, both temporal poles, and midbrain. 18F-florzolo-tau-PET revealed tau-protein deposits in the thalamus and brainstem bilaterally. A gene test by whole-exome sequencing identified a novel MAPT variant [NM_005910.6, exon 11, c.1024G > A (p.E342K)], and the same variant was also identified in one affected relative and one asymptomatic relative, a probable pre-symptomatic carrier.<BR><B>UNASSIGNED: </B>The PSP pedigree caused by the novel MAPT (E342K) variant, expanded the mutational spectrum of MAPT.