**Author Listing - Lead/ Submitting Author (we will be communicating with this individual): Name, Institution, City and State where the work was done. Co-authors will be added in a separate section.**
Andreea Jercan, Fundeni Clinical Institute, Bucharest, Romania

**Main Body of the Abstract**
Hereditary transthyretin amyloidosis (hATTR) is determined by over 130 TTR gene mutations. The Ile107Val mutation (I127V) is rare, with approximately 50-60 reported cases, characterized by a mixed phenotype, late onset and neurological symptoms involving painful paresthesia, along with cardiac involvement. It is also frequently related with demyelination and carpal tunnel syndrome (CTS). Particular manifestations include tongue atrophy and fasciculations, and central nervous system involvement.
In Romania, the most common mutation is Glu54Gln (E74Q) identified in 35 patients from the North-East region, linked to a mixed phenotype, early onset, and an aggressive clinical course. Mutations like Val30Met, Glu98Lys, Glu89Val, and Ile107Val have also been reported.
Our goal is to provide a clinical description of two symptomatic Val107 hATTR patients, with a positive familial history for hATTR from unrelated families.
Both symptomatic patients had an average onset-to-diagnosis time of 4 years. TTR gene sequencing revealed a Val107 mutation, and the abdominal fat-pad biopsy confirmed the presence of amyloid deposits
The first patient (65-year-old male) had bilateral CTS, severe sensory-motor axonal polyneuropathy in the lower extremities, and minimal cardiac involvement. The second case (56-year-old male) also had CTS and neurological involvement without cardiac involvement.
Family screening in both cases confirmed the mutation in two asymptomatic family members.
The clinical manifestation in Romanian individuals with Ile107Val hATTR is less severe than in those with Glu54Gln hATTR, and it differs slightly from patients with the same mutation recorded in other studies.
Our research highlights the clinical heterogeneity of mutations found in hATTR patients in Romania.



Clinical phenotype of Romanian patients with transthyretin-type hereditary amyloidosis due to Val 107 mutation PB45 (#492)

We invite you to attend the XIX International Symposium on Amyloidosis to be held in Rochester, MN.

This symposium is organized as a hybrid meeting (with the focus on in-person) held from Sunday, May 26 through Thursday, May 30, 2024.

Together with the ISA Board and members of Mayo Clinic, a very attractive scientific hybrid program is being planned. The program will cover a variety of types of systemic amyloidosis: ATTR (hereditary and wild-type), AL (light-chain), AA and less frequent forms. There will be key lectures, specific symposia including those company sponsored, oral presentations and poster sessions of accepted abstracts.

COURSE DESCRIPTION
This program will provide a comprehensive review of state-of-the-art education in systemic amyloidosis: basic science, pathophysiology, diagnosis, current and emerging treatments. Scientific presentations will include competitive oral and poster abstracts. The rapid evolution of scientific discovery and expanding treatment options has created tremendous interest in the field and this meeting will fill and important gap in educating scientists and clinicians.