ABSTRACT
In this study, we performed a survey of infantile and late-onset Pompe disease (IOPD and LOPD) in Austria. Paediatric and neuromuscular centres were contacted to provide a set of anonymized clinical and genetic data of patients with IOPD and LOPD. The number of patients receiving enzyme replacement therapy (ERT) was obtained from the pharmaceutical company providing alglucosidase alfa. We found 25 patients in 24 families, 4 IOPD and 21 LOPD with a resulting prevalence of 1:350,914. The most frequent clinical manifestation in LOPD was a lower limb-girdle phenotype combined with axial weakness. Three patients were clinically pauci- or asymptomatic and were diagnosed because of persistent hyperCKemia. Diagnostic delay in LOPD was 7.4 ± 9.7 years. The most common mutation was c.-32-13T > G. All IOPD and 17 symptomatic LOPD patients are receiving ERT. Standardized follow-up was only available in six LOPD patients for the 6-min walk test (6minWT) and in ten for the forced vital capacity (FVC). Mean FVC did not decline (before ERT; 63.6 ± 39.7%; last evaluation during ERT: 61.9 ± 26.9%; P = 0.5) while there was a trend to decline in the mean distance covered by the 6minWT (before ERT: 373.5 ± 117.9 m; last evaluation during ERT: 308.5 ± 120.8 m; P = 0.077). The study shows a lower prevalence of Pompe disease in Austria than in other European countries and corroborates a limb-girdle phenotype with axial weakness as the most common clinical presentation, although asymptomatic hyperCKemia may be the first indication of LOPD.
Subject(s)
Enzyme Replacement Therapy/methods , Glycogen Storage Disease Type II , alpha-Glucosidases/genetics , Adolescent , Adult , Age of Onset , Aged , Austria/epidemiology , Child , Delayed Diagnosis , Female , Follow-Up Studies , Glycogen Storage Disease Type II/epidemiology , Glycogen Storage Disease Type II/genetics , Glycogen Storage Disease Type II/physiopathology , Glycogen Storage Disease Type II/therapy , Humans , Male , Middle Aged , Mutation/genetics , Retrospective Studies , Vital Capacity/physiologyABSTRACT
We investigated the influence of different task demands, task designs, and presentation modalities on the functional MRI activation patterns during a language lateralization task in a group of 14 right-handed control subjects. A word classification task was presented as target task appropriate to evoke language-related activation in the inferior frontal gyrus (IFG). The choice of the contrasting baseline task was demonstrated to have a major impact on the functional outcome: While a fixation baseline elicited activations in the inferior frontal gyrus of both hemispheres, a nonsemantic perceptual control task helped to isolate the relevant target task of word classification. The modality of stimulus presentation did not influence the functional data: Auditory and visual presentation modes broadly evoked activations in similar brain regions during word classification. Minor differences in task performance and the side of the responding hand did not interfere with the functional activation patterns of the target task. On the basis of our results, a protocol of functional lateralization in the inferior frontal gyrus is suggested. J. Magn. Reson. Imaging 2001;13:668-675.
Subject(s)
Cerebral Cortex/physiology , Dominance, Cerebral/physiology , Language , Magnetic Resonance Imaging , Adult , Brain Mapping , Cerebral Cortex/anatomy & histology , Female , Humans , Male , Psychomotor Performance/physiology , Reading , Semantics , Speech Perception/physiology , Verbal Learning/physiologyABSTRACT
A 48-year-old patient who had aphasia due to a left subcortical hemorrhage underwent three follow-up examinations to assess MR signal changes accompanying recovery. A word classification task was applied. During the 6-month follow-up period, we observed a dynamic change from negative toward positive blood oxygenation level-dependent MR signals, i.e., task-related reafferentation of eloquent cortices occurred. Clinical improvement from aphasia paralleled the MR signal changes.
