Mutations in the acid alpha-glucosidase gene (M. Pompe) in a patient with an unusual phenotype

Neurology. 2005 Jan 25;64(2):368-70. doi: 10.1212/01.WNL.0000149528.95362.20.

Abstract

Glycogenosis type II (Pompe disease) is a lysosomal storage disease caused by deficiency of acid alpha-glucosidase (acid maltase). The disease is autosomal recessive inherited and is clinically and genetically heterogenous. The authors describe a 30-year-old woman affected by late-onset Pompe disease with vascular affection resembling atherosclerotic angiopathy of the elderly. Genetic analysis revealed two novel mutations (Ala237Val and Gly293Arg) in the acid alpha-glucosidase gene in this patient.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Amino Acid Substitution
  • Calcinosis / pathology
  • Carotid Arteries / pathology
  • Cerebral Arteries / pathology*
  • Codon / genetics
  • DNA Mutational Analysis
  • Diagnosis, Differential
  • Female
  • Glucan 1,4-alpha-Glucosidase / deficiency
  • Glucan 1,4-alpha-Glucosidase / genetics*
  • Glycogen Storage Disease Type II / diagnosis
  • Glycogen Storage Disease Type II / enzymology
  • Glycogen Storage Disease Type II / genetics*
  • Glycogen Storage Disease Type II / pathology
  • Headache / etiology
  • Humans
  • Intracranial Arteriosclerosis / diagnosis
  • Intracranial Arteriosclerosis / enzymology
  • Intracranial Arteriosclerosis / genetics*
  • Intracranial Arteriosclerosis / pathology
  • Migraine Disorders / diagnosis
  • Mutation, Missense*
  • Paresthesia / etiology
  • Phenotype
  • Point Mutation*
  • Risk Factors
  • alpha-Glucosidases

Substances

  • Codon
  • alpha-Glucosidases
  • Glucan 1,4-alpha-Glucosidase