"Ear of the Lynx" Sign in Hereditary Spastic Paraparesis (HSP) 76
"Ear of the Lynx" Sign in Hereditary Spastic Paraparesis (HSP) 76
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DOI：
10.1002/mdc3.13606
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发表时间：
2022-11-17
影响因子：
4
通讯作者：
Srivastava, Achal K.
中科院分区：
文献类型：
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作者：
Agarwal, Ayush;Oinam, Rahul;Srivastava, Achal K.
遗传性痉挛性轻瘫（Hereditary Spastic Paraparesis，HSP）是一组遗传性疾病，临床和遗传异质性，以皮质脊髓束变性为特征，表现为进行性痉挛和下肢无力。大多数HSP具有常染色体显性遗传。“山猫耳”征描述了MRI上胼胝体（CC）钳状小区域的特征性异常。这些与猞猁的耳朵惊人地相似。这一发现以前曾在遗传性痉挛性下肢轻瘫11和15中描述过，这两种疾病都是常染色体隐性热休克蛋白。我们描述了两个兄弟姐妹的这一发现，他们的新突变导致了HSP 76，一种非常罕见的常染色体隐性HSP（全世界描述的病例不到50例），以前没有报道过。结论该体征提示存在致病性基因突变，可能为常染色体隐性遗传HSP。
BackgroundHereditary Spastic Paraparesis (HSP) are a group of genetically inherited disorders, clinically and genetically heterogenous and characterized by degeneration of corticospinal tracts, manifesting with progressive spasticity and lower limbs weakness. Most HSPs have an autosomal dominant inheritance. "Ear of the Lynx" sign describes the characteristic abnormality in the forceps minor region of the corpus callosum (CC) on MRI brain. These bear a striking resemblance to the ears of a lynx. This finding has previously been described with hereditary spastic paraparesis 11 and 15, both of which are autosomal recessive HSPs. CasesWe describe this finding in two siblings with novel mutations causing HSP76, an extremely rare autosomal recessive HSP (less than 50 cases described worldwide), which has not been reported previously. ConclusionThis sign suggests the presence of pathogenic genetic mutations and is likely indicative of autosomal recessive HSPs.