Molecular Test Listing

Molecular Requisition

FRONTOTEMPORAL DEMENTIA WITH PARKINSONISM (FTDP-17):

Frontotemporal dementia accounts for 3-10% of dementia. Familial frontotemporal dementia with parkinsonism (FTDP) or Pick disease results in a presenile form of dementia with behavioral disturbances. The etiology includes autosomal dominant inheritance, and at the neuropathology level, results in frontotemporal atrophy associated with the basal ganglia, substantia nigra and amygdala; however, the hippocampus is spared. The neuronal loss can be associated with Pick bodies, gliosis, and Lewy bodies.

The microtubule-associated protein tau (MAPT) located on chromosome 17q21-22 has been found to be associated with FTDP in many individuals. Tau is associated with Alzheimer-like, neurofibrillary tangle accumulation in the brain. The tau gene has several occurring and developmentally regulated isoforms involving exons 2-4. Also, exon 10 is successfully spliced into the gene about 50% of the time. There are a number of missense and splicing mutations in exon 10 that result in the tau pathologies. Together, these mutations  approach 50%, by incidence, in patients suspected to have this condition.

• Frontotemporal dementia- especially if there is family history.
• Personality change associated with psychosis, hyperorality and diminished speech.
• Cognitive changes resulting in disturbance in executive function but intact memory.
• Motor changes including brandykinesia and rigidity without tremors.

• Patients with atypical onset of Alzheimer disease.

• PCR amplification of exon 10 of the TAU1 gene and DNA sequencing.

• Blood EDTA (purple top) tubes:  

            Newborn: minimum 1-2 mL          

            Child/Adult: prefer 2 tubes of 3-5 mL

• Prenatal testing: Please contact the laboratory for instructions.

TURNAROUND TIME:     10 working days

CPT CODES: