title: [Neurological complications of Fabry-disease].
abstract: BACKGROUND
  Fabry-disease (FD) is a rare X-linked lysosomal storage disease. Deficiency of alpha-galactosidase A activity leads to the accumulation of neutral glycosphingolipids, primarily globotriaosylceramide (GL-3) in various tissues, particularly blood vessels, kidneys, myocardium and in ganglions of the peripheral and autonomic nervous system and causes diverse symptoms. The classical phenotype is seen in most males and rarely in females. In women, symptoms start later and the severity is milder. Both peripheral and central nervous system can be both affected.
  
  
  OBJECTIVE
  Fabry-patiens and gene-carriers in the central region of Hungary are treated in the 2nd Pediatric Department, Semmelweis University. These patients are consulted by an interdisciplinary team. At present, four hemizygous male, four heterozygous female Fabry-patients and three asymptomatic heterozygous gene carriers are followed.
  
  
  RESULTS
  After reviewing the neurological complications of FD, we present clinical and neuroimaging data of our patients.
  
  
  CONCLUSIONS
  We emphasize that neurologists should suspect the rare monogenic FD in the case of acroparaesthesia and heat-cold intolerance in childhood or adolescence; clinical signs of TIA/stroke or unexplained MRI alterations suggesting small vessel disease in young adults. Early diagnosis and introduction of enzyme replacement therapy (ERT) can halt or reverse progression.
authors.affiliation: Semmelweis Egyetem, Neurológiai Klinika, Budapest. ildiko@neur.sote.hu
authors.forename: Iidikó
authors.initials: I
authors.lastname: Vastagh
authors.forename: Tamás
authors.initials: T
authors.lastname: Constantin
authors.forename: Anna
authors.initials: A
authors.lastname: Kéri
authors.forename: Gábor
authors.initials: G
authors.lastname: Rudas
authors.forename: György
authors.initials: G
authors.lastname: Fekete
authors.forename: Dániel
authors.initials: D
authors.lastname: Bereczki
mesh_terms: D000367:Age Factors; D002493:Central Nervous System Diseases / Q000201:enzymology; D018450:Disease Progression; D056947:Enzyme Replacement Therapy; D000795:Fabry Disease / Q000150:complications* / Q000175:diagnosis* / Q000201:enzymology / Q000235:genetics / Q000378:metabolism; D005260:Female; D006579:Heterozygote; D006801:Humans; D008297:Male; D009422:Nervous System Diseases / Q000201:enzymology* / Q000378:metabolism; D020383:Neutral Glycosphingolipids / Q000378:metabolism; D010523:Peripheral Nervous System Diseases / Q000201:enzymology; D010641:Phenotype; D012678:Sensation Disorders / Q000201:enzymology; D012720:Severity of Illness Index; D012737:Sex Factors; D000519:alpha-Galactosidase / Q000627:therapeutic use
chemical_list: D020383:Neutral Glycosphingolipids; D000519:alpha-Galactosidase