Case of Early-Onset Parkinson’s Disease in a Heterozygous Mutation Carrier of the ATP7B Gene
Abstract
:1. Introduction
2. Materials and Methods
3. Case Report
4. Discussion
Supplementary Materials
Author Contributions
Funding
Conflicts of Interest
Abbreviations
AD | Alzheimer’s disease |
ATP7B | Cu-transporting ATPase P1 type |
BDI | Beck’s Depression Inventor |
Cp | ceruloplasmin |
CSI | copper status indexes |
EOPD | early onset Parkinson’s disease |
FAB | Frontal Assessment Battery |
HADS | Hospital Anxiety and Depression Scale |
H&Y | Hoehn and Yahr stage |
IL | interleukin |
MD | molecular dynamics |
MM-GBSA | Molecular Mechanics-Generalized Borne Surface Area |
MMSE | Mini-Mental State Examination |
N-domain | nucleotide-binding domain |
NCC | non-Cp copper |
NMS PD | Non-Motor Symptoms Scale for Parkinson’s disease |
PD | Parkinson’s disease |
pPD | patient with PD |
PIGD | Postural Instability and Gait Disorder |
ROS | radical oxygen species |
SE-ADL | Schwab and England Activities of Daily Living Scale |
SNpc | substantia nigra pars compacta |
TNF | tumor necrosis factor |
UPDRS | Unified Parkinson’s Disease Rating Scale |
WD | Wilson’s disease |
WT | wild type |
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Parameters | Date of Observation | ||
---|---|---|---|
September 2011 | October 2014 | June 2018 | |
Age (years) | 51 | 54 | 57 |
Modified H&Y scale (stage) | 1.5 | 2.5 | 2.5 |
UPDRS I (scores) | 3 | 5 | 6 |
UPDRS II (scores) | 7 | 10 | 11 |
UPDRS III (scores) | 24 | 38 | 48 |
UPDRS IV (scores) | 1 | 5 | 7 |
Total UPDRS (scores) | 35 | 58 | 72 |
MMSE (scores) | 30 | 28 | 28 |
FAB (scores) | 18 | 18 | 18 |
Clock-drawing test (scores) | 10 | 10 | 10 |
PD-NMS (scores) | 13 | 26 | 32 |
BDI’s scale (scores) | 15 | 14 | 17 |
Sheehan Clinical Anxiety Rating Scale (scores) | 21 | 10 | 35 |
HADS «A» (scores) | 5 | 4 | 5 |
HADS «D» (scores) | 7 | 4 | 6 |
Parameters (pg/mL) | Patient M. | |
---|---|---|
September 2011 | June 2018 | |
Interleukin-1β | 6.4 | 0 |
TNF-α | 0 | 2 |
Interleukin-6 | 1.4 | 0 |
Interleukin-10 | 6 | 3 |
Interleukin-8 | Not measured | 14 |
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Ilyechova, E.Y.; Miliukhina, I.V.; Karpenko, M.N.; Orlov, I.A.; Puchkova, L.V.; Samsonov, S.A. Case of Early-Onset Parkinson’s Disease in a Heterozygous Mutation Carrier of the ATP7B Gene. J. Pers. Med. 2019, 9, 41. https://doi.org/10.3390/jpm9030041
Ilyechova EY, Miliukhina IV, Karpenko MN, Orlov IA, Puchkova LV, Samsonov SA. Case of Early-Onset Parkinson’s Disease in a Heterozygous Mutation Carrier of the ATP7B Gene. Journal of Personalized Medicine. 2019; 9(3):41. https://doi.org/10.3390/jpm9030041
Chicago/Turabian StyleIlyechova, Ekaterina Y., Irina V. Miliukhina, Marina N. Karpenko, Iurii A. Orlov, Ludmila V. Puchkova, and Sergey A. Samsonov. 2019. "Case of Early-Onset Parkinson’s Disease in a Heterozygous Mutation Carrier of the ATP7B Gene" Journal of Personalized Medicine 9, no. 3: 41. https://doi.org/10.3390/jpm9030041