The frequency of parkin mutations was evaluated in 30 families of highly diverse geographic origin with early-onset autosomal recessive parkinsonism. Twelve different mutations, six of which were new, were found in 10 families from Europe and Brazil. Patients with parkin mutations had significantly longer disease duration than patients without the mutation but with similar severity of disease, suggesting a slower disease course. Two patients with parkin mutations had atypical clinical presentation at onset, with predominant tremor when standing.
New parkin mutations and atypical phenotypes in families with autosomal recessive parkinsonism / Rawal, N; Periquet, M; Lohmann, E; Lücking, Cb; Teive, Ha; Ambrosio, G; Raskin, S; Lincoln, S; Hattori, N; Guimaraes, J; Horstink, Mw; Dos Santos Bele, W; Brousolle, E; Destée, A; Mizuno, Y; Farrer, M; Deleuze, Jf; DE MICHELE, Giuseppe; Agid, Y; Dürr, A; Brice, A; French Parkinson's Disease Genetics Study, Group; European Consortium on Genetic Susceptibility in Parkinson's, D. i. s. e. a. s. e.. - In: NEUROLOGY. - ISSN 0028-3878. - ELETTRONICO. - 60:(2003), pp. 1378-1381.
New parkin mutations and atypical phenotypes in families with autosomal recessive parkinsonism.
DE MICHELE, GIUSEPPE;
2003
Abstract
The frequency of parkin mutations was evaluated in 30 families of highly diverse geographic origin with early-onset autosomal recessive parkinsonism. Twelve different mutations, six of which were new, were found in 10 families from Europe and Brazil. Patients with parkin mutations had significantly longer disease duration than patients without the mutation but with similar severity of disease, suggesting a slower disease course. Two patients with parkin mutations had atypical clinical presentation at onset, with predominant tremor when standing.I documenti in IRIS sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.
