University of Sydney at the ANZAC Research Institute, Concord Hospital, Sydney, 2139, NSW, Australia.
Adv Exp Med Biol. 2009;652:201-6. doi: 10.1007/978-90-481-2813-6_13.
Classification of neuropathies into Charcot-Marie-Tooth syndrome (CMT, hereditary motor and sensory neuropathy) or purely motor neuropathies is relatively easy in single patients but subtle sensory findings can vary in different affected individuals in a family. We examined the extent of sensory involvement in different individuals in two new X-linked neuropathy syndromes (CMTX3 and dSMAX) and in some dominantly inherited mainly motor neuropathies. CMTX3 is a mild X- linked recessive CMT phenotype linked to Xq26-28. dSMAX (distal spinal muscular atrophy linked to Xq13-21). We describe a new family linked to this locus that has some sensory findings which could also be described as a motor and sensory neuropathy i.e. a form of CMT. In our dominant distal hereditary motor neuropathy (HMN) family linked to chromosome 7 (dHMN1) we also found some affected individuals with sensory signs as well as reduced sensory action potentials. In reported HMN families with known mutations in GARS, SETX, HSPB1 and HSPB8 genes and in many of our HMN families with unknown gene mutations, there is sensory involvement producing a CMT phenotype in some individuals. These disorders do not easily fit into traditional hereditary neuropathy classifications and should be recognised as CMT/HMN overlap syndromes. Recognition of overlap syndromes may assist development of more accurate gene screening paradigms.
将神经病变分为夏科-马里-图思病(CMT,遗传性运动感觉神经病)或单纯运动神经病在单个患者中相对容易,但在一个家族中的不同受影响个体中,微妙的感觉发现可能会有所不同。我们检查了两种新的 X 连锁神经病综合征(CMTX3 和 dSMAX)以及一些显性遗传性主要运动神经病中不同个体的感觉受累程度。CMTX3 是一种与 Xq26-28 相关的轻度 X 连锁隐性 CMT 表型。dSMAX(与 Xq13-21 相关的远端脊肌萎缩症)。我们描述了一个与该基因座相关的新家族,该家族具有一些感觉发现,也可以被描述为运动感觉神经病,即 CMT 的一种形式。在我们与染色体 7 相关的显性远端遗传性运动神经病(dHMN1)家族中,我们还发现了一些具有感觉迹象和感觉动作电位降低的受影响个体。在已知 GARS、SETX、HSPB1 和 HSPB8 基因突变的报告 HMN 家族以及我们许多具有未知基因突变的 HMN 家族中,一些个体存在感觉受累,产生 CMT 表型。这些疾病不易归入传统遗传性神经病分类,应被视为 CMT/HMN 重叠综合征。认识到重叠综合征可能有助于开发更准确的基因筛选范式。