Dept. of Neuroscience, Rehabilitation, Ophthalmology, Genetics and Maternal and Child Health (DINOGMI), University of Genoa, Viale Benedetto XV, Largo P. Daneo 3, 16132, Genoa, Italy.
Ospedale Policlinico San Martino IRCCS-Neurological Unit, Largo R. Benzi 10, 16132, Genoa, Italy.
Orphanet J Rare Dis. 2018 Oct 4;13(1):177. doi: 10.1186/s13023-018-0917-0.
Transthyretin (TTR)-related familial amyloid polyneuropathy (TTR-FAP) is a life-threatening autosomal dominant, systemic disease. First symptoms usually occur from the second to over sixth decade of life with a length-dependent axonal neuropathy with prominent involvement of the small fibers and multi-organ systemic failure.Early diagnosis is pivotal for effective therapeutic options, but it is hampered by the heterogeneity of the clinical spectrum which can lead to misdiagnosis with other neurological condition/disorder such as axonal sensory-motor neuropathy (CMT2) as described in literature.The aim of our study was to search for TTR mutations in a large cohort of selected undiagnosed axonal sensory-motor neuropathy patients to establish if misdiagnosis is frequent or rare in the Italian population.No TTR pathogenic variants were found in our cohort. In conclusion, our study shows that TTR testing not should be straightforward recommended in CMT2 patients but only when "red flags" TTR's features are present.
转甲状腺素蛋白（TTR）相关家族性淀粉样多发性神经病（TTR-FAP）是一种危及生命的常染色体显性、系统性疾病。首发症状通常发生在第二至第六个十年，具有长度依赖性轴索性神经病，小纤维明显受累和多器官系统衰竭。早期诊断对于有效的治疗选择至关重要，但由于临床谱的异质性，这会导致误诊，如文献中描述的轴索性感觉运动神经病（CMT2）等其他神经疾病/障碍。我们的研究目的是在一组选定的未确诊的轴索性感觉运动神经病患者中寻找 TTR 突变，以确定在意大利人群中是否经常或罕见出现误诊。我们的队列中未发现 TTR 致病性变异。总之，我们的研究表明，TTR 检测不应该在 CMT2 患者中直接推荐，只有当存在 TTR 的“警示特征”时才应进行 TTR 检测。
