Objective: Describe the detailed clinical characteristics of patients diagnosed with Parkinson’s disease (PD) who have the DJ1 gene mutation.

Background: Inherited PD represents 5-10% of PD patients. The International Parkinson’s Disease and Movement Disorder Society Gene Database (MDSGene) currently contains more than 1100 gene variants in patients with movement disorders. (1) The MDSGene contains 33 patients with a DJ1 gene mutation causing AR early-onset PD. (2) There is a lack of detailed description and the lack of phenotypic data of the DJ1 mutation associated with young-onset PD. (3)

Method: We included all patients diagnosed with PD and with a confirmed genetic mutation in the DJ1 gene, of any age. We obtained the data retrospectively through patient chart reviews and videos from the Video Library. We organized, cleaned, and analyzed the dataset using SPSS.

Results: We included five patients with PD secondary to PARK7 mutation. Four patients had a homozygous frameshift mutation in the PARK7 gene. The mean age at disease onset was 26.4 years, and the disease duration was 13.4 years. Four patients were males, and three patients had a positive family history. (Table 1) All patients responded well to levodopa, and four had severe levodopa-induced dyskinesia. Motor fluctuations and dependency developed nine to ten years after the onset of the symptoms. The motor symptoms included bradykinesia, rigidity, resting or postural tremor, freezing of gait, postural instability, levodopa-induced limb symptoms, and cervical dystonia. All patients with a homozygous mutation had severe speech impairment. (Table 2) Only two patients underwent DBS. The DBS targets were bilateral GPI and STN in Patient A and Patient B, respectively. DBS side effects included OFF dyskinesia and speech impairment with freezing of gait in Patient A and Patient B, respectively. (Table 3)

Conclusion: PD secondary to PARK7 gene mutation is rare. The clinical features are not widely reported in the literature. In our sample, the patient responded well to dopaminergic medications and exhibited both typical and atypical motor features; the nonmotor features were neuropsychiatric rather than GI. Our patients showed varied responses to DBS, with differing benefits and side effects. More research on the secondary PARK7 gene mutation in PD must be published to improve understanding of this rare disease.

Table 1: Patients demographics

Table 2: Patients clinical features

Table 3: DBS related characteristics

References: 1. Klein C, Hattori N, Marras C. MDSGene: Closing Data Gaps in Genotype-Phenotype Correlations of Monogenic Parkinson’s Disease. J Parkinsons Dis. 2018;8(s1):S25-S30.
2. International parkinson and movement disorder society. Dec 2020. MDSGene. Mar 2023.
3. Kasten M, Hartmann C, Hampf J, et al. Genotype-Phenotype Relations for the Parkinson’s Disease Genes Parkin, PINK1, DJ1: MDSGene Systematic Review. Mov Disord. 2018 May;33(5):730-741.

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MDS Abstracts - https://www.mdsabstracts.org/abstract/clinical-features-of-dj1-gene-mutation-causing-parkinsons-disease-from-a-single-centre/