Parkin mutations in a patient with hemiparkinsonism-hemiatrophy: a clinical-genetic and PET study.
The authors describe a 37-year-old woman with early-onset hemiparkinsonism (HP) and ipsilateral body hemiatrophy (HA). Genetic analysis revealed a missense mutation (Arg275Trp) and a duplication of exon 7 of parkin. The complementary metabolic and receptor pattern of PET ligands corresponded to that typically found in idiopathic PD, although tracer binding asymmetry was lacking. Parkin mutations should be considered in HPHA, particularly when there is a younger age at onset and dystonia is an early sign.
Pramstaller
P P
PP
Department of Neurology, Regional General Hospital, Bolzano/Bozen, Italy. pppramsta@rolmail.net
Künig
G
G
Leenders
K
K
Kann
M
M
Hedrich
K
K
Vieregge
P
P
Goetz
C G
CG
Klein
C
C
D000328:Adult; D017668:Age of Onset; D001284:Atrophy; D001921:Brain / Q000000981:diagnostic imaging; D005091:Exons; D005150:Facial Hemiatrophy; D005260:Female; D018628:Gene Dosage; D006225:Hand / Q000473:pathology; D006801:Humans; D008025:Ligases / Q000235:genetics*; D009154:Mutation; D020734:Parkinsonian Disorders / Q000000981:diagnostic imaging / Q000235:genetics* / Q000473:pathology; D013577:Syndrome; D014055:Tomography, Emission-Computed; D044767:Ubiquitin-Protein Ligases
D044767:Ubiquitin-Protein Ligases; C111567:parkin protein; D008025:Ligases