Abstract
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.
Publication types
-
Case Reports
-
Research Support, Non-U.S. Gov't
MeSH terms
-
Age of Onset
-
Brain / diagnostic imaging
-
Brain / metabolism*
-
Brain / physiopathology*
-
Diagnosis, Differential
-
Dopamine Agents / therapeutic use
-
Energy Metabolism / genetics
-
Genetic Predisposition to Disease / genetics
-
Humans
-
Italy
-
Levodopa / therapeutic use
-
Male
-
Middle Aged
-
Mitochondria / genetics
-
Mitochondrial Diseases / diagnosis
-
Mitochondrial Diseases / diagnostic imaging
-
Mitochondrial Diseases / genetics*
-
Mutation / genetics*
-
Parkinson Disease / diagnosis
-
Parkinson Disease / diagnostic imaging
-
Parkinson Disease / genetics
-
Parkinsonian Disorders / diagnosis
-
Parkinsonian Disorders / diagnostic imaging
-
Parkinsonian Disorders / genetics*
-
Phenotype
-
Protein Kinases / genetics*
-
Shy-Drager Syndrome / complications
-
Shy-Drager Syndrome / genetics
-
Shy-Drager Syndrome / physiopathology
-
Sympathetic Nervous System / physiopathology
-
Tomography, Emission-Computed, Single-Photon
-
Treatment Outcome
Substances
-
Dopamine Agents
-
Levodopa
-
Protein Kinases
-
PTEN-induced putative kinase