A Case Report of FTD genetic diagnosis

Frontotemporal degeneration is a group of neurodegenerative diseases that typically present with personality and behavioral changes or language difficulty (primary progressive aphasia, PPA). Although FTD is among the most common presenile dementias, the range of onset is quite wide (30s–80s years of age). Approximately 20%–40% of FTD cases have a family history of disease, and 10% of FTD cases are inherited in an autosomal dominant fashion.11 The most notable variants are found in MAPT (microtubule-associated protein tau), C9ORF72, and PGRN (progranulin). Huntington s disease (HD) is an inherited autosomal dominant disorder that results in the death of brain cells. The earliest symptoms are often subtle problems with mood or mental abilities.

Keywords:

Huntington disease , genetic counseling , Whole exome sequencing , frontotemporal dementia