Publikation

The Phenotypic Variation of a Family and the Role of Heterozygosity

Wissenschaftlicher Artikel/Review - 16.09.2019

Bereiche
PubMed
DOI

Zitation
Stark R, Walch J, Kägi G. The Phenotypic Variation of a Family and the Role of Heterozygosity. Mov Disord Clin Pract 2019; 6:700-703.
Art
Wissenschaftlicher Artikel/Review (Englisch)
Zeitschrift
Mov Disord Clin Pract 2019; 6
Veröffentlichungsdatum
16.09.2019
eISSN (Online)
2330-1619
Seiten
700-703
Kurzbeschreibung/Zielsetzung

Background
Parkinson's disease (PD) is a common neurodegenerative disorder with both sporadic occurrence and Mendelian heredity, as it is true for autosomal recessive -related PD (PARK-). 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- 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 -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.