A novel form of juvenile recessive ALS maps to loci on 6p25 and 21q22

Neuromuscul Disord. 2009 Apr;19(4):279-87. doi: 10.1016/j.nmd.2009.02.006. Epub 2009 Mar 21.

Abstract

We describe a novel form of juvenile recessive ALS (JRALS) affecting four of six offspring from a consanguineous first cousin marriage. The syndrome is characterized by early and prominent upper motor neuron signs, along with striking amyotrophy of the upper and lower limbs and bulbar involvement. After excluding linkage to loci with known association to ALS and other motor neuron diseases, we used a homozygosity mapping approach to identify loci on chromosomes 6p25 and 21q22, each with an equal probability of linkage to the trait (with a LOD score=3.1, the maximum possible given the family structure). Mutation analysis of seven candidate genes that are expressed in the CNS or have roles in neuronal function did not reveal any pathogenic mutations. Identification of additional families will help to distinguish between which of the two autosomal loci contains the disease-causing gene, or whether this is a digenic trait.

Publication types

  • Case Reports
  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Age of Onset
  • Amyotrophic Lateral Sclerosis / genetics*
  • Amyotrophic Lateral Sclerosis / pathology
  • Amyotrophic Lateral Sclerosis / physiopathology
  • Brain / pathology
  • Brain / physiopathology
  • Brain Stem / pathology
  • Brain Stem / physiopathology
  • Child
  • Chromosome Disorders / genetics
  • Chromosome Mapping
  • Chromosomes, Human, Pair 21 / genetics*
  • Chromosomes, Human, Pair 6 / genetics*
  • DNA Mutational Analysis
  • Genes, Recessive / genetics
  • Genetic Predisposition to Disease / genetics*
  • Genetic Testing
  • Humans
  • Male
  • Motor Neuron Disease / genetics
  • Motor Neuron Disease / pathology
  • Motor Neuron Disease / physiopathology
  • Mutation / genetics*
  • Syndrome