title: New mutations and genotype-phenotype correlation in late-onset Pompe patients.
abstract: Pompe disease is a glycogen storage disease caused by acid alfa-glucosidase deficiency. Here, we report clinical properties, genetic features of our late-onset Pompe patients. Seven patients were followed during the last 10 years in our institute. The clinical and laboratory findings were reviewed. Neuropsychological evaluation was performed in four patients. Myotonic discharges of paraspinal muscles and denervation potentials were seen in all patients at the diagnosis and were disappeared during follow-up in two. Only one patient, whose MRI showed cerebral atrophy, had attention and executive dysfunction. Compound heterozygous patients with IVS 1-13T>G have a milder disease. One patient who has homozygous IVS 1-13T>G mutation had more severe disease. Two of our patients who had very severe and fatal disease course carry double mutations on both alleles (c.547-39T>G and c.858+5ins7) that previously scored as "unknown" in Erasmus Pompe Center database. Lastly, we found new mutations (c.1209 C>A, 2737dupG) in two patients carrying IVS 1-13T>G in the other allele. Systemic involvements are very rare in late-onset Pompe patients. Similarly, Pompe disease does not cause cognitive impairment in adult population. Homozygous IVS 1-13T>G mutation and c.547-39T>G mutation which are previously noted as "unknown" pathogenicities cause a more severe disease.
authors.affiliation: Neurology Department, School of Medicine, Hacettepe University, Sihhiye, Ankara, Turkey. canebru@yahoo.co.uk.|Neuromuscular Diseases Research Laboratory, School of Medicine, Hacettepe University, Ankara, Turkey. canebru@yahoo.co.uk.
authors.forename: Can Ebru
authors.initials: CE
authors.lastname: Bekircan-Kurt
authors.affiliation: Neurology Department, Ankara Training Hospital, Ankara, Turkey.
authors.forename: Hafize Nalan
authors.initials: HN
authors.lastname: Güneş
authors.affiliation: Neurology Department, School of Medicine, Hacettepe University, Sihhiye, Ankara, Turkey.
authors.forename: F Gokcem
authors.initials: FG
authors.lastname: Yildiz
authors.affiliation: Neurology Department, School of Medicine, Hacettepe University, Sihhiye, Ankara, Turkey.
authors.forename: Esen
authors.initials: E
authors.lastname: Saka
authors.affiliation: Neurology Department, School of Medicine, Hacettepe University, Sihhiye, Ankara, Turkey.|Neuromuscular Diseases Research Laboratory, School of Medicine, Hacettepe University, Ankara, Turkey.
authors.forename: Ersin
authors.initials: E
authors.lastname: Tan
authors.affiliation: Neurology Department, School of Medicine, Hacettepe University, Sihhiye, Ankara, Turkey.|Neuromuscular Diseases Research Laboratory, School of Medicine, Hacettepe University, Ankara, Turkey.
authors.forename: Sevim
authors.initials: S
authors.lastname: Erdem-Özdamar
mesh_terms: D000328:Adult; D017668:Age of Onset; D004252:DNA Mutational Analysis; D005260:Female; D056726:Genetic Association Studies; D006009:Glycogen Storage Disease Type II / Q000235:genetics* / Q000503:physiopathology*; D006801:Humans; D008297:Male; D009154:Mutation; D000520:alpha-Glucosidases / Q000235:genetics*
chemical_list: C509951:GAA protein, human; D000520:alpha-Glucosidases
keywords: 2737dupG; Cognitive impairment; Late-onset Pompe disease; c.1209C>A; c.547-39T>G; c.858+5ins7