New parkin mutations and atypical phenotypes in families with autosomal recessive parkinsonism.
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.
Rawal
N
N
INSERM U289, Hôpital la Salpêtrière, Paris, France.
Periquet
M
M
Lohmann
E
E
Lücking
C B
CB
Teive
H A
HA
Ambrosio
G
G
Raskin
S
S
Lincoln
S
S
Hattori
N
N
Guimaraes
J
J
Horstink
M W I M
MW
Dos Santos Bele
W
W
Brousolle
E
E
Destée
A
A
Mizuno
Y
Y
Farrer
M
M
Deleuze
J-F
JF
De Michele
G
G
Agid
Y
Y
Dürr
A
A
Brice
A
A
D000328:Adult; D018389:Codon, Nonsense; D004252:DNA Mutational Analysis; D005091:Exons / Q000235:genetics; D005260:Female; D005808:Genes, Recessive; D006801:Humans; D008297:Male; D008875:Middle Aged; D010641:Phenotype; D017354:Point Mutation; D016133:Polymerase Chain Reaction; D022821:RNA Splice Sites / Q000235:genetics; D044767:Ubiquitin-Protein Ligases / Q000235:genetics*
D018389:Codon, Nonsense; D022821:RNA Splice Sites; D044767:Ubiquitin-Protein Ligases; C111567:parkin protein