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Parkinsonism Relat Disord. 2017 Mar;36:47-51. doi: 10.1016/j.parkreldis.2016.12.014. Epub 2016 Dec 16.

A "dose" effect of mutations in the GBA gene on Parkinson's disease phenotype.

Author information

1
Movement Disorders Unit, Neurological Institute, Tel-Aviv Sourasky Medical Center, Israel; Sackler School of Medicine, Sagol School of Neuroscience, Tel Aviv University, Tel Aviv, Israel. Electronic address: avnerth@gmail.com.
2
Movement Disorders Unit, Neurological Institute, Tel-Aviv Sourasky Medical Center, Israel; Sackler School of Medicine, Sagol School of Neuroscience, Tel Aviv University, Tel Aviv, Israel.
3
Genetic Institute, Tel Aviv Sourasky Medical Center, Israel.
4
Memory and Attention Disorders Center, Neurological Institute, Tel Aviv Sourasky Medical Center Israel.
5
Sackler School of Medicine, Sagol School of Neuroscience, Tel Aviv University, Tel Aviv, Israel; Genetic Institute, Tel Aviv Sourasky Medical Center, Israel.

Abstract

OBJECTIVE:

Mutations in the GBA gene are associated with Parkinson's disease (PD). A definite description of the clinical characteristics of PD patients who are compound heterozygotes or homozygotes for mutations in the GBA gene (GD-PD) requires further elucidation.

METHODS:

We assessed motor, cognitive, olfactory and autonomic functions as well as demographic data and medical history in a cohort of Ashkenazi Jewish PD patients who were screened for seven common mutations in the GBA gene. We then compared three groups of patients (matched for age and disease duration) who were distinguished by their GBA mutation status, idiopathic PD (iPD), GBA heterozygote PD (GBA-PD) and GD-PD.

RESULTS:

Out of a total of 1050 AJ PD patients screened, 12 were found to be either homozygotes or compound heterozygotes for mutations in the GBA gene. These patients had an earlier age of onset, more severe motor impairment, poorer cognition and lower olfactory scores. They also had a higher prevalence of REM sleep behavior disorder and higher frequencies of hallucinations compared to both GBA-PD and iPD.

CONCLUSIONS:

The severity of PD phenotype is related to the burden of GBA mutations with GD-PD patients manifesting a more severe phenotype.

KEYWORDS:

GBA; Gaucher's disease; Parkinson's disease

[Indexed for MEDLINE]

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