Article
Familial parkinsonism with synuclein pathology: clinical and PET studies of A30P mutation carriers.
Neurology - 22 May 2001
Krüger R, Kuhn W, Leenders K L, Sprengelmeyer R, Müller T, Woitalla D, Portman A T, Maguire R P, Veenma L, Schröder U, Schöls L, Epplen J T, Riess O, Przuntek H
Abstract excerpt
BACKGROUND: The authors identified the second known mutation in the alpha-synuclein(SNCA) gene, an alanine-to-proline exchange in amino acid position 30 (A30P), that cosegregates with the disease in one German family with autosomal dominantly inherited parkinsonism (ADP). The authors studied carriers of the A30P mutation to compare the phenotype of this mutation with idiopathic PD (IPD) and to assess...
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