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Phenotypic Discordance in Siblings with Identical Compound Heterozygous PARK2 Mutations

Department of Neurology, Vanderbilt University Medical Center, 1301 Medical Center Dr. Suite 3930, Nashville, TN 37232-5400, USA
Department of Pediatrics, Pediatric Neurology, Vanderbilt University Medical Center, Nashville, TN 37232-2594, USA
Author to whom correspondence should be addressed.
Academic Editors: Steven Frucht and Pichet Termsarasab
Brain Sci. 2017, 7(7), 71;
Received: 31 May 2017 / Revised: 18 June 2017 / Accepted: 21 June 2017 / Published: 24 June 2017
(This article belongs to the Special Issue Pathophysiology and Genetics of Movement Disorders)
PARK2 mutations are the most common cause of early-onset Parkinson’s disease. No genotype-phenotype correlation exists, and phenotypic variability is quite common. We report two siblings with confirmed identical compound heterozygous mutations in the PARK2 gene manifesting strikingly different phenotypes. The older brother demonstrated marked parkinsonism by his mid-20’s, whereas the younger brother developed exercise-induced dystonia in his mid-30’s with no subsequent clinical progression, highlighting the clinical heterogeneity of the disease and implying the role of other genetic and/or environmental factors in disease progression. The younger sibling, despite his mild symptoms, had a clearly abnormal dopamine transporter (DaT)-SPECT scan. To our knowledge, this is the first such reported case of an abnormal DaT-SPECT scan in a patient with biallelic PARK2 mutations who does not meet the clinical criteria for Parkinson’s disease. View Full-Text
Keywords: PARK2; parkin; Parkinson’s disease; DAT-SPECT PARK2; parkin; Parkinson’s disease; DAT-SPECT
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Isaacs, D.; Claassen, D.; Bowman, A.B.; Hedera, P. Phenotypic Discordance in Siblings with Identical Compound Heterozygous PARK2 Mutations. Brain Sci. 2017, 7, 71.

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