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- Galactosemia: the genotype and phenotype of seven patientsPublication . MARTINS, E.; TEIXEIRA, J.; CARDOSO, M.; LIMA, M.; BRIONES‐GODINO, P.; BARBOT, C.Rev Neurol. 2004 Jun 16-30;38(12):1132-5. [Galactosemia: the genotype and phenotype of seven patients]. [Article in Spanish] Martins E, Teixeira J, Cardoso ML, Lima MR, Briones-Godino P, Barbot C. SourceUnidad de Metabolismo, Hospital de Niños Maria Pia, Oporto, Portugal. npo38871@mail.telepac.pt Abstract INTRODUCTION: Despite early dietary therapy, many patients with galactosemia show a neurodegenerative disease specially evident in speech impairment and movement disorders. Magnetic resonance imaging of the brain, show cerebral white matter changes with hypomielinization bilateral and symetrical periventricular hypersignal in T2. PATIENTS AND METHODS: We presented clinical and neuroradiological data of seven children (3 to 12 years of age) with classical galactosemia. All had a typical presentation in neonatal period. Two children had normal development (10 and 12 years-old), four presented developmental delay (10, 7, 4 and 3 years-old), and one showed a dystonic cerebral palsy (kernicterus). RESULTS: The brain MRI showed the typical involvement of white matter, in five children, and basal ganglia abnormalities in the kernicterus patient. Three patients are homozygous for Q188R mutation and two are compound heterozygous. CONCLUSION: We found a positive correlation among developmental delay, white matter involvement and Q188R mutation.
- The scope of preserved procedural memory in amnesiaPublication . Cavaco, S.; Anderson, S.; Allen, J.; Castro-Caldas, A.; Damasio, H.The finding that patients with amnesia retain the ability to learn certain procedural skills has provided compelling evidence of multiple memory systems in the human brain, but the scope, defining features and ecological significance of the preserved mnemonic abilities have not yet been explored. Here, we tested the hypothesis that subjects with amnesia would be able to learn and retain a broad range of procedural skills, by examining their acquisition and retention performance on five novel experimental tasks. The tasks are based on real-world activities and encompass a broad range of perceptual–motor demands: (i) the weaving task involves weaving pieces of fabric from woollen strings, using a manual weaver’s loom; (ii) the geometric figures task consists of tracing geometric figures with a stylus as they move horizontally across a touch screen monitor; (iii) the control stick task involves tracking a sequence of visual target locations using a joystick control; (iv) the pouring task consists of pouring 200 ml of water from a watering can into a series of graduated cylinders, from a point 20 cm above the cylinders; and (v) the spatial sequence task involves learning an ordered sequence of pushing five spatially distributed buttons without visual guidance. Ten chronic and stable amnesic subjects (nine with bilateral medial temporal lobe damage due to herpes simplex encephalitis or anoxia, and one with thalamic stroke) and 25 matching normal comparison subjects were tested on three occasions: initial learning at time 1; retention at time 2 (24 h later); and retention at time 3 (2 months later). Despite impaired declarative memory for the tasks, the amnesic subjects demonstrated acquisition and retention of the five skills; their learning slopes over repeated trials were comparable with those of comparison subjects. These findings indicate that preserved learning of complex perceptual–motor skills in patients with amnesia is a robust phenomenon, and that it can be demonstrated across a variety of conditions and perceptual– motor demands. The comparability of the tasks employed in this study with real-world activities highlights the potential application of this memory dissociation in the rehabilitation of patients with amnesia