English Spanish Chinese Russian German Japanese Portuguese Hindi Telugu Tamil

Journal de neurologie et neurosciences

  • ISSN: 2171-6625
  • Indice h du journal: 17
  • Note de citation du journal: 4.43
  • Facteur d’impact du journal: 3.38
Indexé dans
  • Ouvrir la porte J
  • Genamics JournalSeek
  • Le facteur d'impact global (GIF)
  • Infrastructure nationale des connaissances en Chine (CNKI)
  • Répertoire d'indexation des revues de recherche (DRJI)
  • OCLC - WorldCat
  • Invocation de Proquête
  • Facteur d'impact des revues scientifiques (SJIF)
  • Pub européen
  • Google Scholar
  • Laboratoires secrets des moteurs de recherche
Voir plus
Partager cette page

Abstrait

Clinical and functional description of a new form of autosomal recessive familial parkinsons disease with late onset

S. Manzano Palomo, M. Rioja, J. Kulisevsky and A. Jimenez-Escrig

We report the clinical and dopaminergic functional study of two families with autosomal recessive Parkinson disease coming from a geneticisolate region, in which known causative genes for recessive Parkinson disease (PARKIN, DJ1, PINK 1) were ruled out by homozygosity search.LRRK2 frequent mutation G2019S and α-synuclein were also examined and discarged as well, as the cause of a pseudorecessive pattern oftransmission. Functional study with iodine-123-betaIoflupane SPECT (DaTSCAN®, GE) of affected cases showed a bilateral although asymmetricaluptake in putamen and caudate nucleus, demonstrative that a presynaptic lesion was responsible for the clinical picture. 123–IBZMSPECT was normal, ruling out a postsynaptic lesion. These families present a late onset benign Parkinson disease that represents a new formof recessive familial Parkinson disease.