Basic information of SPG11 :
| Official Symbol of Gene | SPG11 |
| Species | Homo sapiens |
| Entrez Gene ID | 80208 |
| Official Full Name | SPG11 vesicle trafficking associated, spatacsin |
| Also known as | ALS5; CMT2X; KIAA1840 |
| Gene Type | protein coding |
| dbXrefs | Ensembl:ENSG00000104133 MIM:610844; AllianceGenome:HGNC:11226 |
| Map Location | 15q21.1 |
Sample information of multiple sclerosis:
| Detected Sample | Peripheral blood |
| Sample Detail | N/A |
| Detected Method | PCR |
| Disease | MSã€hereditary spastic paraplegia |
| Disease subtype | N/A |
| Population | N/A |
| Sample Size | 34 healthy controls/ 34 patients with multiple sclerosis |
Literature information of multiple sclerosis :
| Pubmed ID | 30606727 |
| Year | 2019 |
| Title | “Ears of the Lynx†MRI Sign Is Associated with SPG11 and SPG15 Hereditary Spastic Paraplegia |
Results of multiple sclerosis :
| Expression | up-regulation |
| Risk type | Disease risk |
| Result | The ears of the lynx sign on FLAIR MR imaging is highly specific for the most common genetic subtypes of hereditary spastic paraplegia with a thin corpus callosum. When this sign is present, there is a high likelihood of a genetic mutation, particularly associated with SPG11 or SPG15, even in the absence of a family history. |
| Mechanism/Pathway | The “ears of the lynx†MR imaging sign has been described in case reports of hereditary spastic paraplegia with a thin corpus callosum, mostly associated with mutations in the spatacsin vesicle trafficking associated gene, causing Spastic Paraplegia type 11 (SPG11). This sign corresponds to long T1 and T2 values in the forceps minor of the corpus callosum, which appears hyperintense on FLAIR and hypointense on T1-weighted images |
