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Abstract
INTRODUCTION: A latent nigrostriatal deficit and its possible clinical consequences in asymptomatic heterozygous Parkin and PINK1 mutation carriers (AMC) have been a matter of investigation in recent years. Notably, mild Parkinsonian signs in heterozygous mutation carriers can be so subtle that they may be missed if not specifically investigated.
METHODS: We studied 15 heterozygous Parkin and PINK1 AMC and 18 age- and sex-matched mutation-negative controls using a standardized video, instructing the probands to perform relevant parts of the UPDRS III to investigate fine motor movements at baseline and after first-time L-Dopa administration. Additionally, available UPDRS III scores of mutation carriers from the past ten years were reviewed.
RESULTS: AMC showed a reduced number of fine motor movements per second compared to controls at baseline (p = 0.04). L-Dopa improved motor performance numerically but non-significantly in AMC (p = 0.2301), but significantly in healthy controls (p = 6.1·10-5). Although none of the AMC reported symptoms, nine showed rigidity, bradykinesia, tremor, and postural instability when the UPDRS III was applied. Mean UPDRSIII scores significantly decreased after L-Dopa administration (p = 0.005), but did not increase over the past ten years.
CONCLUSIONS: (i) Heterozygous AMC show subtle motor abnormalities when a detailed, specialized motor examination is applied and compared to mutation-negative matched control subjects. (ii) The mild motor deficit present in a subgroup of heterozygous Parkin and PINK1 AMC appears to be non-progressive and responsive to L-dopa administration. (iii) Evaluating motor changes, their progression, and treatment response in AMC can provide valuable insights into possible early disease stages and compensatory mechanisms.
Original language | English |
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Journal | Parkinsonism and Related Disorders |
Volume | 42 |
Pages (from-to) | 95-99 |
Number of pages | 5 |
ISSN | 1353-8020 |
DOIs | |
Publication status | Published - 01.09.2017 |
Research Areas and Centers
- Academic Focus: Center for Brain, Behavior and Metabolism (CBBM)
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Motor cortex plasticity induction by pairing subthalamic nucleus deep brain stimulation and dorsal premotor cortical transcranial magnetic stimulation in Parkinsons disease
Weißbach, A. (Principal Investigator (PI)) & Chen, R. (Project Staff)
01.01.16 → 31.12.17
Project: DFG Projects › DFG Scholarships: Research Fellowships