Academic Journal
SPG5 and multiple sclerosis: clinical and genetic overlap?
| العنوان: | SPG5 and multiple sclerosis: clinical and genetic overlap? |
|---|---|
| المؤلفون: | CRISCUOLO, CHIARA, Carbone, R, LIETO, MARIA, PELUSO, SILVIO, Guacci, A, FILLA, ALESSANDRO, QUARANTELLI, MARIO, LANZILLO, ROBERTA, BRESCIA MORRA, VINCENZO, DE MICHELE, GIUSEPPE |
| المساهمون: | Criscuolo, Chiara, Carbone, R, Lieto, Maria, Peluso, Silvio, Guacci, A, Filla, Alessandro, Quarantelli, Mario, Lanzillo, Roberta, BRESCIA MORRA, Vincenzo, DE MICHELE, Giuseppe |
| سنة النشر: | 2016 |
| المجموعة: | IRIS Università degli Studi di Napoli Federico II |
| مصطلحات موضوعية: | CYP7B1, SPG5, multiple sclerosi, spastic paraplegia |
| الوصف: | Autosomal recessive (AR) spastic paraplegia type 5 (SPG5) is due to mutations in the CYP7B1 gene, encoding for the cytochrome P450-7B1, responsible for oxysterols 7α-hydroxylation. Oxysterol/cholestenoic acids pool plays a role in motor neuron survival and immune response. SPG5 is characterized by white matter abnormalities at brain resonance imaging (MRI). In view of clinical presentation and MRI findings, multiple sclerosis (MS) is a possible differential diagnosis of SPG5. This study aimed to evaluate the frequency of CYP7B1 mutations in patients with MS. |
| نوع الوثيقة: | article in journal/newspaper |
| اللغة: | unknown |
| Relation: | info:eu-repo/semantics/altIdentifier/wos/WOS:000374044400001; volume:133; firstpage:410; lastpage:414; numberofpages:5; journal:ACTA NEUROLOGICA SCANDINAVICA; http://hdl.handle.net/11588/614046; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-84941584873 |
| DOI: | 10.1111/ane.12476 |
| الاتاحة: | http://hdl.handle.net/11588/614046 https://doi.org/10.1111/ane.12476 |
| رقم الانضمام: | edsbas.E1DC535B |
| قاعدة البيانات: | BASE |
| DOI: | 10.1111/ane.12476 |
|---|