PMID- 26370385
OWN - NLM
STAT- MEDLINE
DCOM- 20161213
LR  - 20161230
IS  - 1600-0404 (Electronic)
IS  - 0001-6314 (Linking)
VI  - 133
IP  - 6
DP  - 2016 Jun
TI  - SPG5 and multiple sclerosis: clinical and genetic overlap?
PG  - 410-4
LID - 10.1111/ane.12476 [doi]
AB  - BACKGROUND: 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 7alpha-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. METHODS: One hundred and seventeen MS patients with clinical
      spastic paraplegia or possible AR transmission were selected for the mutational
      screening. RESULTS: Forty-three patients had primary progressive, 26 relapsing
      remitting, 26 secondary progressive, and 22 relapsing progressive MS clinical
      course. No CYP7B1 homozygous mutations were identified. Two novel variants and
      one pathogenic mutation were found at heterozygous state. CONCLUSIONS: The two
      novel variants cosegregated with pyramidal signs and autoimmune diseases
      suggesting that they might be susceptibility factors. Reduced cytochrome P450-7B1
      enzymatic activity could alter the balance among neurotoxic and neuroprotective
      oxysterols promoting motor neuron degeneration and/or immune response.
CI  - (c) 2015 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.
FAU - Criscuolo, C
AU  - Criscuolo C
AD  - Department of Neurosciences, Reproductive Sciences and Odontostomatology,
      'Federico II' University of Naples, Naples, Italy.
FAU - Carbone, R
AU  - Carbone R
AD  - Department of Neurosciences, Reproductive Sciences and Odontostomatology,
      'Federico II' University of Naples, Naples, Italy.
FAU - Lieto, M
AU  - Lieto M
AD  - Department of Neurosciences, Reproductive Sciences and Odontostomatology,
      'Federico II' University of Naples, Naples, Italy.
FAU - Peluso, S
AU  - Peluso S
AD  - Department of Neurosciences, Reproductive Sciences and Odontostomatology,
      'Federico II' University of Naples, Naples, Italy.
FAU - Guacci, A
AU  - Guacci A
AD  - Department of Neurosciences, Reproductive Sciences and Odontostomatology,
      'Federico II' University of Naples, Naples, Italy.
FAU - Filla, A
AU  - Filla A
AD  - Department of Neurosciences, Reproductive Sciences and Odontostomatology,
      'Federico II' University of Naples, Naples, Italy.
FAU - Quarantelli, M
AU  - Quarantelli M
AD  - Biostructure and Bioimaging Institute, National Research Council, Naples, Italy.
FAU - Lanzillo, R
AU  - Lanzillo R
AD  - Department of Neurosciences, Reproductive Sciences and Odontostomatology,
      'Federico II' University of Naples, Naples, Italy.
FAU - Morra, V Brescia
AU  - Morra VB
AD  - Department of Neurosciences, Reproductive Sciences and Odontostomatology,
      'Federico II' University of Naples, Naples, Italy.
FAU - De Michele, G
AU  - De Michele G
AD  - Department of Neurosciences, Reproductive Sciences and Odontostomatology,
      'Federico II' University of Naples, Naples, Italy.
LA  - eng
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
DEP - 20150915
PL  - Denmark
TA  - Acta Neurol Scand
JT  - Acta neurologica Scandinavica
JID - 0370336
RN  - EC 1.14.- (Steroid Hydroxylases)
RN  - EC 1.14.13.100 (CYP7B1 protein, human)
RN  - EC 1.14.14.23 (Cytochrome P450 Family 7)
RN  - Spastic paraplegia type 5A, recessive
SB  - IM
MH  - Adolescent
MH  - Adult
MH  - Brain/pathology
MH  - Child
MH  - Cytochrome P450 Family 7/*genetics
MH  - Female
MH  - Heterozygote
MH  - Humans
MH  - Male
MH  - Middle Aged
MH  - Multiple Sclerosis/complications/diagnosis/*genetics
MH  - Mutation
MH  - Spastic Paraplegia, Hereditary/complications/diagnosis/*genetics
MH  - Steroid Hydroxylases/*genetics
OTO - NOTNLM
OT  - CYP7B1
OT  - SPG5
OT  - multiple sclerosis
OT  - spastic paraplegia
EDAT- 2015/09/16 06:00
MHDA- 2016/12/15 06:00
CRDT- 2015/09/16 06:00
PHST- 2015/08/17 00:00 [accepted]
PHST- 2015/09/16 06:00 [entrez]
PHST- 2015/09/16 06:00 [pubmed]
PHST- 2016/12/15 06:00 [medline]
AID - 10.1111/ane.12476 [doi]
PST - ppublish
SO  - Acta Neurol Scand. 2016 Jun;133(6):410-4. doi: 10.1111/ane.12476. Epub 2015 Sep
      15.