Publication

The phenotypic variation of a PARK-Parkin family and the role of heterozygosity

Journal Paper/Review - Nov 14, 2019

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Citation
Walch J. The phenotypic variation of a PARK-Parkin family and the role of heterozygosity. Movement Disorders Clinical Practice 2019; 2019 Sep:700-703.
Type
Journal Paper/Review (English)
Journal
Movement Disorders Clinical Practice 2019; 2019 Sep
Publication Date
Nov 14, 2019
Pages
700-703
Brief description/objective

ABSTRACT



Background

Parkinson's disease (PD) is a common neurodegenerative disorder with both sporadic occurrence and Mendelian heredity, as it is true for autosomal recessive parkin‐related PD (PARK‐parkin). Parkin‐related PD is characterized by early onset, slow progression, frequent lower limb dystonia, and a robust response to levodopa. Clinicians are increasingly confronted with heterozygous PD patients mimicking dominant inheritance. Nevertheless, the exact clinical implications of heterozygosity are not fully understood.


Cases

We present an illustrative PARK‐parkin family with 2 affected sisters (compound heterozygous) and their father (heterozygous). One sister expresses the classical phenotype, whereas the other has isolated jerky tremor. The father has left‐sided action tremor of the hand with some dystonic posturing without clear bradykinesia and normal DaTSCAN.


Conclusion

This case series illustrates the phenotypic variability in parkin‐related PD with 1 classical phenotype and 1 patient with isolated jerky tremor. Unilateral hand tremor of the heterozygous father could mislead genetic testing by mimicking dominant inheritance.