Central nervous system involvement in hereditary transthyretin amyloidosis: a literature review and a case report
General Medicine, 2024, 26(4), 52-58.
S. Zhelyazkova1,2, I. Tournev1,2,3
1 Clinic of Nervous System Diseases, University Hospital “Alexandrovska” – Sofia
2 Department of Neurology, Medical University – Sofia
3 Department of Cognitive Science and Psychology, New Bulgarian University – Sofia
Abstract. Hereditary transthyretin amyloidosis is a severe, adult-onset autosomal dominant disease caused by the accumulation of abnormally configured transthyretin and predominantly affecting the peripheral and autonomic nervous system, heart, kidney and the eyes. Central nervous system (CNS) involvement is becoming increasingly common in individuals with Val30Met mutation and longstanding disease, who usually present with peripheral nervous system symptoms and transient focal neurological episodes, stroke and cognitive decline. We report the case of a 72-year-old woman showing evidence of CNS involvement (cognitive decline, headache, dysphagia, hand tremor), in the context of hereditary transthyretin amyloidosis (hATTR) due to Ser77Phe mutation of the TTR gene. More data is needed to clarify the specific features, prevalence, pathophysiology, and progression of CNS involvement in hATTR.
Key words: central nervous system involvement, cognitive impairment, hereditary transthyretin amyloidosis, a case report
Address for correspondence: Sashka Georgieva Zhelyazkova, e-mail: doc_sashka@abv.bg