Abstract Details

Title An Exploratory Study of Cognitive Involvement in Hereditary Transthyretin Amyloidosis

Topic Neuromuscular and Clinical Neurophysiology (EMG)

Presentation(s) P1 - Poster Session 1 (9:00 AM-5:00 PM)

Poster/Presentation
Number 385

Objective Cognitive consequences of the mutant TTR in hereditary ATTRv amyloidosis patients remain still to be elucidated. Hereditary ATTRv amyloidosis is a very rare disorder, especially in non-endemic areas; therefore, despite the small size of our cohort and exploratory nature of the study, the findings may provide some clues for a better understating of the cognitive involvement in the ATTRv amyloidosis.

Background Hereditary amyloidogenic transthyretin (ATTRv) amyloidosis is an autosomal dominant disorder caused by mutations of the transthyretin (TTR) gene. The mutant ATTRv protein causes a systemic accumulation of amyloid fibrils in various organs. TTR is an important protein in the central nervous system physiology for the maintenance of normal cognitive process during aging, amidated neuropeptide processing, and nerve regeneration. The neuroprotective effect of transthyretin has been widely documented in animal models. Cognitive consequences of lack of normal TTR and the mutant TTR in human still remain to be elucidated. Only a few neuropsychological assessment of these patients were published previously.

Design/Methods Detailed neuropsychological tests and cranial MRIs were performed. Biomarkers including amyloid beta 1–42, total tau, and phosphorylated tau were investigated in the cerebrospinal fluid samples.

Results Median age of the cohort was 52 years (ranges 34–72). Neuropsychological assessment results were compatible with impaired executive functions (in all patients except one with only bilateral carpal tunnel syndrome, long-term visual and long-term verbal memory (severe in four patients and moderate in one). Visuospatial judgment and perception were impaired in six. Mean cerebrospinal fluid Aβ1-42 (pg/ml) was 878.0 ± 249.5 in patients with cortical atrophyin MRI whereas 1210.0 ± 45.9 in patients without any cortical atrophy. Cranial MRI showed cortical atrophy in six patients (6/10).

Conclusions Our data showed the significance of the TTR protein in cognitive functions and highlighted the importance of the close follow-up of cognitive functions in ATTRv amyloidosis patients.

Authors/Disclosures
Hacer Durmus, MD (Department of Neurology, Istanbul Faculty of Medicine) PRESENTER	Dr. Durmus has nothing to disclose.
Arman Cakar	Arman Cakar has nothing to disclose.
	No disclosure on file
Fatma Yesim Parman, MD (Istanbul Üniversitesi Tip Fakültesi)	Dr. Parman has nothing to disclose.

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