Article
New parkin mutations and atypical phenotypes in families with autosomal recessive parkinsonism.
Neurology - 22 Apr 2003
Rawal N, Periquet M, Lohmann E, Lücking C B, Teive H A, Ambrosio G, Raskin S, Lincoln S, Hattori N, Guimaraes J, Horstink M W I M, Dos Santos Bele W, Brousolle E, Destée A, Mizuno Y, Farrer M, Deleuze J-F, De Michele G, Agid Y, Dürr A, Brice A
Abstract excerpt
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...
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