The PINK1 phenotype can be indistinguishable from idiopathic Parkinson disease.
Mutations in the PINK1 gene cause autosomal recessive parkinsonism characterized by early onset and a variable phenotypic presentation. A patient homozygous for the Ala168Pro mutation has been fully characterized clinically. Apart from onset at age 39 years and the excellent and sustained response to levodopa, all clinical and laboratory features, including SPECT and assessment of autonomic function, were indistinguishable from typical idiopathic Parkinson disease.
Albanese
A
A
National Neurologic Institute Carlo Besta, Università Cattolica del Sacro Cuore, Milan, Italy. alberto.albanese@unicatt.it
Valente
E M
EM
Romito
L M
LM
Bellacchio
E
E
Elia
A E
AE
Dallapiccola
B
B
D017668:Age of Onset; D001921:Brain / Q000000981:diagnostic imaging / Q000378:metabolism* / Q000503:physiopathology*; D003937:Diagnosis, Differential; D015259:Dopamine Agents / Q000627:therapeutic use; D004734:Energy Metabolism / Q000235:genetics; D020022:Genetic Predisposition to Disease / Q000235:genetics; D006801:Humans; D007558:Italy; D007980:Levodopa / Q000627:therapeutic use; D008297:Male; D008875:Middle Aged; D008928:Mitochondria / Q000235:genetics; D028361:Mitochondrial Diseases / Q000175:diagnosis / Q000000981:diagnostic imaging / Q000235:genetics*; D009154:Mutation / Q000235:genetics*; D010300:Parkinson Disease / Q000175:diagnosis / Q000000981:diagnostic imaging / Q000235:genetics; D020734:Parkinsonian Disorders / Q000175:diagnosis / Q000000981:diagnostic imaging / Q000235:genetics*; D010641:Phenotype; D011494:Protein Kinases / Q000235:genetics*; D012791:Shy-Drager Syndrome / Q000150:complications / Q000235:genetics / Q000503:physiopathology; D013564:Sympathetic Nervous System / Q000503:physiopathology; D015899:Tomography, Emission-Computed, Single-Photon; D016896:Treatment Outcome; D000099202:PTEN-Induced Putative Kinase
D015259:Dopamine Agents; D007980:Levodopa; D011494:Protein Kinases; D000099202:PTEN-Induced Putative Kinase