Autosomal recessive spastic paraplegia (SPG30) with mild ataxia and sensory neuropathy maps to chromosome 2q37.3
Autosomal recessive spastic paraplegia (SPG30) with mild ataxia and sensory neuropathy maps to chromosome 2q37.3
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DOI：
10.1093/brain/awl012
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发表时间：
2006-06-01
期刊：
影响因子：
14.5
通讯作者：
Stevanin, Giovanni
中科院分区：
文献类型：
--
作者：
Klebe, Stephan;Azzedine, Hamid;Stevanin, Giovanni
遗传性痉挛截瘫(HSPs)是一组临床上和遗传上不同的神经退行性疾病，其特征是肢体的进行性痉挛。到目前为止，已经定位了29个不同的基因座(SPG)，并识别了11个相关基因。在临床上，人们区分单纯和复杂的HSP形式，这些形式与多种神经和神经外体征的组合有不同的联系。人们对常染色体隐性遗传形式(ARHSP)知之甚少，因为定位的基因座通常是在单个家庭中发现的，只占患者的一小部分。我们报道了位于染色体2q37.3上的一个新的ARHSP基因座(SPG30)，该家系有7名未患病的阿尔及利亚血统成员和4名患病成员，居住在法国东部，显著的多点Lod评分为3.8。来自法国(n=4)、突尼斯(n=2)、阿尔及利亚(n=3)和捷克共和国(n=1)的另外10个家庭没有与新发现的基因座相关联，从而进一步显示了遗传异质性。连锁家系的表型包括痉挛性瘫痪和周围神经病，并伴有轻微的小脑体征，在一次CT扫描中证实为小脑萎缩。
The hereditary spastic paraplegias (HSPs) are a clinically and genetically heterogeneous group of neurodegenerative diseases characterized by progressive spasticity in the lower limbs. Twenty-nine different loci (SPG) have been mapped so far, and 11 responsible genes have been identified. Clinically, one distinguishes between pure and complex HSP forms which are variably associated with numerous combinations of neurological and extra-neurological signs. Less is known about autosomal recessive forms (ARHSP) since the mapped loci have been identified often in single families and account for only a small percentage of patients. We report a new ARHSP locus (SPG30) on chromosome 2q37.3 in a consanguineous family with seven unaffected and four affected members of Algerian origin living in Eastern France with a significant multipoint lod score of 3.8. Ten other families from France (n = 4), Tunisia (n = 2), Algeria (n = 3) and the Czech Republic (n = 1) were not linked to the newly identified locus thus demonstrating further genetic heterogeneity. The phenotype of the linked family consists of spastic paraparesis and peripheral neuropathy associated with slight cerebellar signs confirmed by cerebellar atrophy on one CT scan.