The patient went on to have genetic testing.
Progranulin gene mutation result: No mutations detected
Mutations in the Progranulin gene GRN on chromosome 17q21 (in close proximity to the MAPT gene) have been associated with autosomal dominant frontotemporal lobular degeneration with ubiquitin-immunoreactive neuronal inclusions (FTLD-U). In this analysis each exon of the GRN gene was amplified from genomic DNA by PCR and bi-directionally sequenced on an ABI 3130x1 Genetic Analyser, and compared to the NG 007886.1 reference sequence using Mutation Surveyor Software.
TAU gene mutation Result: No mutations detected
A number of neuropathologies, particularly a familial subtype of fronto-temporal dementia have been linked to the gene encoding the microtubule-associated Tau protein (MAPT) on chromosome 17; mutations to MAPT are responsible for 10-20% familial frontotemporal dementia. In this analysis each exon of MAPT was amplified by PCR and bi-directionally sequenced on an ABI 3130x1 Genetic Analyser, and compared to the NG_007398.1 reference sequence using Mutation Surveyor Software.
Several heterozygous polymorphisms were detected, including 5'UTR, IVS2, IVS3, IVS8, 1VS11 and exonic SNP's as listed below; several which are non-synonymous (change the amino acid). All but one however have been reported as non-pathogenic. One has not been previously reported and therefore its pathogenicity is unknown.
NOTE : In family DNA studies, the accuracy of diagnosis assumes stated relationships within a kindred, clinical diagnosis and identification of samples to be correct.
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