Paulo Alegria

Learn More
GTP cyclohydrolase 1, encoded by the GCH1 gene, is an essential enzyme for dopamine production in nigrostriatal cells. Loss-of-function mutations in GCH1 result in severe reduction of dopamine synthesis in nigrostriatal cells and are the most common cause of DOPA-responsive dystonia, a rare disease that classically presents in childhood with generalized(More)
Hereditary spastic paraplegias (HSP) are neurodegenerative diseases mainly characterized by lower limb spasticity associated, in complicated forms, with additional neurological signs. We have analysed a large series of index patients (n = 76) with this condition, either from families with an autosomal recessive inheritance (n = 43) or isolated patients (n =(More)
We studied 21 patients, from 18 families, with L-2-hydroxyglutaric aciduria (L-2-HGA), a rare neurometabolic disorder with a homogeneous presentation: progressive neurodegeneration with extrapyramidal and cerebellar signs, seizures, and subcortical leukoencephalopathy. Increased levels of L-2-hydroxyglutaric acid in body fluids proved the diagnosis of(More)
Investigation in the field of Alzheimer's disease (AD), the commonest cause of dementia, has been very active in recent years and it may be difficult for the clinician to keep up with all the innovations and to be aware of the implications they have in clinical practice. The authors, thus, reviewed recent literature on the theme in order to provide the(More)
Parkinson’s disease in GTP cyclohydrolase 1 mutation carriers Niccolò E. Mencacci, Ioannis U. Isaias, Martin M. Reich, Christos Ganos, Vincent Plagnol, James M. Polke, Jose Bras, Joshua Hersheson, Maria Stamelou, Alan M. Pittman, Alastair J. Noyce, Kin Y. Mok, Thomas Opladen, Erdmute Kunstmann, Sybille Hodecker, Alexander Münchau, Jens Volkmann, Samuel(More)
  • 1