Paketci C, Karakaya M, Edem P, Bayram E, Keller N, Daimagüler H-S, Cirak S, Jordanova A, Hiz S, Wirth B, Yiş U
Department of Pediatric Neurology, School of Medicine, Dokuz Eylul University, Izmir, Turkey.
University of Cologne, University Hospital Cologne, Institute of Human Genetics, Cologne, Germany; University of Cologne, Center for Molecular Medicine Cologne (CMMC), Cologne, Germany; University of Cologne, Center for Rare Diseases Cologne (ZSEK), Cologne, Germany.
Rev Neurol (Paris). 2020 Dec;176(10):846-855. doi: 10.1016/j.neurol.2020.04.016. Epub 2020 Jul 21.
Hereditary polyneuropathies are heterogeneous group of diseases of the peripheral nervous system. In this study, we investigated the demographic, clinical, electrophysiological, and genetic characteristics of hereditary polyneuropathy patients diagnosed and followed up in our tertiary center clinic in Izmir, Turkey.
Patients who were diagnosed with hereditary polyneuropathies during nerve conduction studies in our center were evaluated retrospectively.
In a total of 1484 nerve conduction studies, 207 patients were diagnosed with polyneuropathy. Ninety-nine of those patients were determined to have hereditary polyneuropathy, 52 of which were male and 47 were female. Sixty-nine patients with hereditary polyneuropathy were compatible with axonal and 30 were compatible with demyelinating polyneuropathy. Genetic analysis was performed in 69 patients, and 49 of those patients were genetically diagnosed, leading to a diagnosis rate of 71%.
Advances in genetics have led to an increase in the heterogeneity of hereditary polyneuropathies, causing difficulties in the use of existing classifications. Although typical mutations expected in childhood-onset polyneuropathies are seen less frequently, polyneuropathies are frequently encountered as findings of complex, multisystemic diseases.
遗传性多发性神经病是周围神经系统疾病的异质性群体。在本研究中，我们调查了在土耳其伊兹密尔的三级中心诊所诊断和随访的遗传性多发性神经病患者的人口统计学、临床、电生理和遗传特征。
对在我们中心进行神经传导研究期间被诊断为遗传性多发性神经病的患者进行回顾性评估。
在总共1484次神经传导研究中，207例患者被诊断为多发性神经病。其中99例患者被确定患有遗传性多发性神经病，其中52例为男性，47例为女性。69例遗传性多发性神经病患者符合轴索性，30例符合脱髓鞘性多发性神经病。对69例患者进行了基因分析，其中49例患者得到基因诊断，诊断率为71%。
遗传学的进展导致遗传性多发性神经病的异质性增加，给现有分类的使用带来困难。虽然儿童期发病的多发性神经病中预期的典型突变较少见，但多发性神经病常作为复杂多系统疾病的表现而被发现。
