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.
SPG5 and multiple sclerosis: clinical and genetic overlap? / Criscuolo, Chiara; Carbone, R; Lieto, Maria; Peluso, Silvio; Guacci, A; Filla, Alessandro; Quarantelli, Mario; Lanzillo, Roberta; BRESCIA MORRA, Vincenzo; DE MICHELE, Giuseppe. - In: ACTA NEUROLOGICA SCANDINAVICA. - ISSN 0001-6314. - 133:(2016), pp. 410-414. [10.1111/ane.12476]
SPG5 and multiple sclerosis: clinical and genetic overlap?
CRISCUOLO, CHIARA;LIETO, MARIA;PELUSO, SILVIO;FILLA, ALESSANDRO;QUARANTELLI, MARIO;LANZILLO, ROBERTA;BRESCIA MORRA, VINCENZO;DE MICHELE, GIUSEPPE
2016
Abstract
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.I documenti in IRIS sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.
