Oligoclonal bands in the cerebrospinal fluid of amyotrophic lateral sclerosis patients with disease-associated mutations

J Neurol. 2013 Jan;260(1):85-92. doi: 10.1007/s00415-012-6589-0. Epub 2012 Jul 1.

Abstract

In amyotrophic lateral sclerosis (ALS) cerebrospinal fluid (CSF) analysis is usually performed to exclude inflammatory processes of the central nervous system. Although in a small subset of patients an intrathecal synthesis of IgG is detectable, usually there is no clear explanation for this evidence. This study investigates the occurrence of oligoclonal bands (OCBs) in the CSF of a large series of ALS patients, attempting a correlation with genotype data. CSF was collected from 259 ALS patients. CSF parameters were measured according to standard procedures, and detection of OCBs performed by isoelectric focusing. The patients were screened for mutations in SOD1, FUS, TARDBP, ANG, OPTN, and C9ORF72. We observed the presence of OCBs in the CSF of 9/259 ALS patients (3.5 %), and of disease-associated mutations in 12 cases. OCBs were significantly more frequent in mutation carriers compared to the remaining cohort (3/12 vs 6/247; p < 0.01). Among patients with OCBs, two patients had the TARDBP p.A382T mutation (one of which in homozygous state), and one the ANG p.P-4S variant. Both patients carrying the p.A382T mutation had an atypical phenotype, one of them manifesting signs suggestive of a cerebellar involvement, and the other presenting neuroradiological findings suggestive of an inflammatory disorder of the central nervous system. Our results suggest that ALS patients with OCBs may harbor mutations in disease-causing genes. We speculate that mutations in both TARDBP and ANG genes may disrupt the blood-brain barrier (BBB), promoting local immune responses and neuroinflammation. The role of mutant TARDBP and ANG genes on BBB integrity of ALS patients warrants further investigation.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Aged
  • Amyotrophic Lateral Sclerosis / cerebrospinal fluid*
  • Amyotrophic Lateral Sclerosis / genetics*
  • Amyotrophic Lateral Sclerosis / pathology
  • Blood Cell Count
  • Blood Sedimentation
  • Brain / pathology
  • C-Reactive Protein / metabolism
  • C9orf72 Protein
  • Cell Cycle Proteins
  • Cohort Studies
  • DNA Mutational Analysis
  • DNA-Binding Proteins / genetics*
  • Female
  • Humans
  • Magnetic Resonance Imaging
  • Male
  • Membrane Transport Proteins
  • Middle Aged
  • Mutation / genetics*
  • Oligoclonal Bands / cerebrospinal fluid*
  • Proteins / genetics
  • Ribonuclease, Pancreatic / genetics
  • Superoxide Dismutase / genetics
  • Superoxide Dismutase-1
  • Transcription Factor TFIIIA / genetics

Substances

  • C9orf72 Protein
  • C9orf72 protein, human
  • Cell Cycle Proteins
  • DNA-Binding Proteins
  • Membrane Transport Proteins
  • OPTN protein, human
  • Oligoclonal Bands
  • Proteins
  • SOD1 protein, human
  • Transcription Factor TFIIIA
  • C-Reactive Protein
  • Superoxide Dismutase
  • Superoxide Dismutase-1
  • angiogenin
  • Ribonuclease, Pancreatic

Supplementary concepts

  • Amyotrophic lateral sclerosis 1