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Parkinson disease 6

MedGen UID:
409973
•Concept ID:
C1970035
•
Finding
Synonym: PARKINSON DISEASE 6, LATE-ONSET, SUSCEPTIBILITY TO
 
Related gene: PINK1
 
OMIM®: 605909; 608309

Authors:
Lola Cook Shukla  |  Jeanine Schulze  |  Janice Farlow, et. al.   view full author information

Professional guidelines

PubMed

Frequency and case identification of dementia with Lewy bodies using the revised consensus criteria.
Aarsland D, Rongve A, Nore SP, Skogseth R, Skulstad S, Ehrt U, Hoprekstad D, Ballard C
Dement Geriatr Cogn Disord 2008;26(5):445-52. Epub 2008 Oct 31 doi: 10.1159/000165917. PMID: 18974647

Recent clinical studies

Etiology

Identification of risk features for complication in Gaucher's disease patients: a machine learning analysis of the Spanish registry of Gaucher disease.
Andrade-Campos MM, de Frutos LL, Cebolla JJ, Serrano-Gonzalo I, Medrano-Engay B, Roca-Espiau M, Gomez-Barrera B, Pérez-Heredia J, Iniguez D, Giraldo P
Orphanet J Rare Dis 2020 Sep 22;15(1):256. doi: 10.1186/s13023-020-01520-7. PMID: 32962737Free PMC Article
Patients' Expectations and Satisfaction in Subthalamic Nucleus Deep Brain Stimulation for Parkinson Disease: 6-Year Follow-up.
Lin HY, Hasegawa H, Mundil N, Samuel M, Ashkan K
World Neurosurg 2019 Jan;121:e654-e660. Epub 2018 Oct 4 doi: 10.1016/j.wneu.2018.09.181. PMID: 30292658
Quantitative analysis of rapid pointing movements in Cree subjects exposed to mercury and in subjects with neurological deficits.
Beuter A, de Geoffroy A, Edwards R
Environ Res 1999 Jan;80(1):50-63. doi: 10.1006/enrs.1998.3884. PMID: 9931227

Diagnosis

Autonomic control of heart and vessels in patients with very early stage of Parkinson disease.
Oleksakova J, Javorka M, Czippelova B, Mazgutova N, Grofik M, Babalova L, Skacik P, Kurca E
Physiol Meas 2023 May 9;44(5) doi: 10.1088/1361-6579/accefb. PMID: 37080232
Identification of risk features for complication in Gaucher's disease patients: a machine learning analysis of the Spanish registry of Gaucher disease.
Andrade-Campos MM, de Frutos LL, Cebolla JJ, Serrano-Gonzalo I, Medrano-Engay B, Roca-Espiau M, Gomez-Barrera B, Pérez-Heredia J, Iniguez D, Giraldo P
Orphanet J Rare Dis 2020 Sep 22;15(1):256. doi: 10.1186/s13023-020-01520-7. PMID: 32962737Free PMC Article

Therapy

Identification of risk features for complication in Gaucher's disease patients: a machine learning analysis of the Spanish registry of Gaucher disease.
Andrade-Campos MM, de Frutos LL, Cebolla JJ, Serrano-Gonzalo I, Medrano-Engay B, Roca-Espiau M, Gomez-Barrera B, Pérez-Heredia J, Iniguez D, Giraldo P
Orphanet J Rare Dis 2020 Sep 22;15(1):256. doi: 10.1186/s13023-020-01520-7. PMID: 32962737Free PMC Article
Quantitative analysis of rapid pointing movements in Cree subjects exposed to mercury and in subjects with neurological deficits.
Beuter A, de Geoffroy A, Edwards R
Environ Res 1999 Jan;80(1):50-63. doi: 10.1006/enrs.1998.3884. PMID: 9931227

Prognosis

Identification of risk features for complication in Gaucher's disease patients: a machine learning analysis of the Spanish registry of Gaucher disease.
Andrade-Campos MM, de Frutos LL, Cebolla JJ, Serrano-Gonzalo I, Medrano-Engay B, Roca-Espiau M, Gomez-Barrera B, Pérez-Heredia J, Iniguez D, Giraldo P
Orphanet J Rare Dis 2020 Sep 22;15(1):256. doi: 10.1186/s13023-020-01520-7. PMID: 32962737Free PMC Article

Clinical prediction guides

Autonomic control of heart and vessels in patients with very early stage of Parkinson disease.
Oleksakova J, Javorka M, Czippelova B, Mazgutova N, Grofik M, Babalova L, Skacik P, Kurca E
Physiol Meas 2023 May 9;44(5) doi: 10.1088/1361-6579/accefb. PMID: 37080232
Identification of risk features for complication in Gaucher's disease patients: a machine learning analysis of the Spanish registry of Gaucher disease.
Andrade-Campos MM, de Frutos LL, Cebolla JJ, Serrano-Gonzalo I, Medrano-Engay B, Roca-Espiau M, Gomez-Barrera B, Pérez-Heredia J, Iniguez D, Giraldo P
Orphanet J Rare Dis 2020 Sep 22;15(1):256. doi: 10.1186/s13023-020-01520-7. PMID: 32962737Free PMC Article
Patients' Expectations and Satisfaction in Subthalamic Nucleus Deep Brain Stimulation for Parkinson Disease: 6-Year Follow-up.
Lin HY, Hasegawa H, Mundil N, Samuel M, Ashkan K
World Neurosurg 2019 Jan;121:e654-e660. Epub 2018 Oct 4 doi: 10.1016/j.wneu.2018.09.181. PMID: 30292658
Progression of pathology in PINK1-deficient mouse brain from splicing via ubiquitination, ER stress, and mitophagy changes to neuroinflammation.
Torres-Odio S, Key J, Hoepken HH, Canet-Pons J, Valek L, Roller B, Walter M, Morales-Gordo B, Meierhofer D, Harter PN, Mittelbronn M, Tegeder I, Gispert S, Auburger G
J Neuroinflammation 2017 Aug 2;14(1):154. doi: 10.1186/s12974-017-0928-0. PMID: 28768533Free PMC Article

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