Physical Address

304 North Cardinal St.
Dorchester Center, MA 02124

Frontotemporal Lobar Degenerations with Ubiquitin-Inclusions (FTLD-U and FTLD-MND) (TDP-43)


Definition

  • Progressive neurodegenerative disorders presenting with behavioral or language abnormalities

  • FTLD with motor neuron disease (FTLD-MND)—cognitive dysfunction with the following:

    • Clinical features of motor neuron disease or

    • Ubiquitin-immunoreactive, tau-negative inclusion bodies within motor neurons histologically (with or without symptoms of MND)

  • FTLD with ubiquitin-only-immunoreactive neuronal changes (FTLD-U)—cognitive dysfunction with the following:

    • Ubiquitin-immunoreactive, tau-negative inclusions

    • No clinical/histologic evidence of MND

Clinical Features

Epidemiology

  • No gender predilection

  • Age range: 39 to 77 years old (FTLD-MND) and 53 to 83 years old (FTLD-U)

  • FTLD-U and FTLD-MND cases have abnormal transactive response DNA-binding protein-43 (TDP-43); encoded by the TARDBP gene on chromosome 1

    • TDP-43 is hyperphosphorylated, abnormally folded, and bound to ubiquitin forming neuronal and glial intranuclear and intracytoplasmic inclusions

  • A subset of patients with FTLD-U and FTLD-MND have mutations of the C9ORF72 gene on chromosome 9p

  • 15% to 25% of FTLD-U cases have mutation in progranulin ( PGRN ) gene

You're Reading a Preview

Become a Clinical Tree membership for Full access and enjoy Unlimited articles

Become membership

If you are a member. Log in here

Related Posts