Agarwal Ayush, Oinam Rahul, Goel Vinay, Sharma Pooja, Faruq Mohd, Garg Ajay, Srivastava Achal K
Department of Neurology All India Institute of Medical Sciences New Delhi India.
Department of Neuroradiology All India Institute of Medical Sciences New Delhi India.
Mov Disord Clin Pract. 2022 Nov 17;10(1):120-123. doi: 10.1002/mdc3.13606. eCollection 2023 Jan.
Hereditary 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.
We 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.
This sign suggests the presence of pathogenic genetic mutations and is likely indicative of autosomal recessive HSPs.
遗传性痉挛性截瘫（HSP）是一组遗传性疾病，在临床和基因方面具有异质性，其特征为皮质脊髓束变性，表现为进行性痉挛和下肢无力。大多数HSP为常染色体显性遗传。“猞猁耳”征描述了大脑磁共振成像（MRI）中胼胝体（CC）小钳区域的特征性异常。这些异常与猞猁的耳朵极为相似。此前在遗传性痉挛性截瘫11型和15型中曾描述过这一发现，这两种类型均为常染色体隐性HSP。
我们在两名患有导致HSP76的新突变的兄弟姐妹中描述了这一发现，HSP76是一种极其罕见的常染色体隐性HSP（全球报道病例少于50例），此前尚未见报道。
这一征象提示存在致病性基因突变，可能表明为常染色体隐性HSP。
