Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 2914
Gene Symbol: GRM4
GRM4
0.020 AlteredExpression phenotype BEFREE This work led to the identification of compound 40, a potent and selective mGluR4 positive allosteric modulator (PAM) with good water solubility and demonstrating consistent activity across validated preclinical rodent models of PD motor symptoms after intraperitoneal administration: haloperidol-induced catalepsy in mouse and the rat 6-hydroxydopamine (6-OHDA) lesion model. 28902994 2017
Entrez Id: 2914
Gene Symbol: GRM4
GRM4
0.020 Biomarker phenotype BEFREE This work provides a demonstration that a positive allosteric modulator of metabotropic glutamate receptor 4 can alleviate the motor symptoms of PD and the motor complications induced by l-dopa in primates. 30216534 2018
Entrez Id: 2915
Gene Symbol: GRM5
GRM5
0.010 Biomarker phenotype BEFREE To date, current therapeutic approaches focus on managing motor symptoms and trying to slow neurodegeneration, with minimal capacity to promote neurorecovery. mGluR5 plays a key role in neuroplasticity, and altered mGluR5 signaling contributes to synucleinopathy and dyskinesia in patients with Parkinson's disease. 31754998 2020
Entrez Id: 3315
Gene Symbol: HSPB1
HSPB1
0.010 Biomarker phenotype BEFREE This review extensively profiles the published literature on CMT2F and distal hereditary motor neuropathy II (dHMN II), a similar neuropathy with exclusively motor symptoms that is also due to mutations in Hsp27. 31212070 2019
Entrez Id: 3316
Gene Symbol: HSPB2
HSPB2
0.010 GeneticVariation phenotype BEFREE This review extensively profiles the published literature on CMT2F and distal hereditary motor neuropathy II (dHMN II), a similar neuropathy with exclusively motor symptoms that is also due to mutations in Hsp27. 31212070 2019
Entrez Id: 8988
Gene Symbol: HSPB3
HSPB3
0.010 GeneticVariation phenotype BEFREE This review extensively profiles the published literature on CMT2F and distal hereditary motor neuropathy II (dHMN II), a similar neuropathy with exclusively motor symptoms that is also due to mutations in Hsp27. 31212070 2019
Entrez Id: 3064
Gene Symbol: HTT
HTT
0.050 GeneticVariation phenotype BEFREE Abnormal communication between cerebral cortex and striatum plays a major role in the motor symptoms of Huntington's disease (HD), a neurodegenerative disorder caused by a mutation of the huntingtin gene (<i>mHTT</i>). 31693428 2019
Entrez Id: 3064
Gene Symbol: HTT
HTT
0.050 GeneticVariation phenotype BEFREE In Huntington's disease (HD), the size of the expanded HTT CAG repeat mutation is the primary driver of the processes that determine age at onset of motor symptoms. 23595883 2013
Entrez Id: 3064
Gene Symbol: HTT
HTT
0.050 GeneticVariation phenotype BEFREE Neither the extended shared haplotype nor the individual local HTT haplotypes were associated with altered CAG-repeat length distribution or residual age at the onset of motor symptoms, arguing against modification of these disease features by common cis-regulatory elements. 22387017 2012
Entrez Id: 3064
Gene Symbol: HTT
HTT
0.050 GeneticVariation phenotype BEFREE It is caused by the expansion of the HTT CAG repeat, which is the major determinant of age at onset (AO) of motor symptoms. 23644918 2013
Entrez Id: 3064
Gene Symbol: HTT
HTT
0.050 GeneticVariation phenotype BEFREE Huntington disease (HD) is frequently first diagnosed by the appearance of motor symptoms; the diagnosis is subsequently confirmed by the presence of expanded CAG repeats (> 35) in the HUNTINGTIN (HTT) gene. 23874679 2013
Entrez Id: 3483
Gene Symbol: IGFALS
IGFALS
0.030 Biomarker phenotype BEFREE Thus, alterations in body weight are present in ALS patients already decades before clinical manifestation of ALS, while weight loss precedes motor symptoms of several years and is associated with poor prognosis. 28975435 2017
Entrez Id: 3483
Gene Symbol: IGFALS
IGFALS
0.030 Biomarker phenotype BEFREE The mice heterozygotic for the human mutated SOD1 (D and DF) showed distinct ALS-like motor symptoms, whereas the mice heterozygotic for the normal SOD1 (W and WF) mice did not. 15857664 2005
Entrez Id: 3483
Gene Symbol: IGFALS
IGFALS
0.030 GeneticVariation phenotype BEFREE Early changes of neuromuscular transmission in the SOD1(G93A) mice model of ALS start long before motor symptoms onset. 24040091 2013
Entrez Id: 11202
Gene Symbol: KLK8
KLK8
0.010 Biomarker phenotype BEFREE Inclusion criteria were as follows: sensory or motor symptoms in a single lumbar nerve distribution; positive physical examination findings including positive straight leg raise test, distributional weakness, and/or a diminished deep tendon reflexes; and magnetic resonance imaging of the lumbar spine positive for HNP in a distribution correlating with the radicular complaint. 28567591 2017
Entrez Id: 3897
Gene Symbol: L1CAM
L1CAM
0.010 GeneticVariation phenotype BEFREE Hundreds of L1CAM gene mutations have been shown to be associated with congenital hydrocephalus, severe intellectual disability, aphasia, and motor symptoms. 27001749 2016
Entrez Id: 3918
Gene Symbol: LAMC2
LAMC2
0.010 Biomarker phenotype BEFREE Serial assessments included measures of motor symptoms, non-motor symptoms (NMS), neuropsychological assessment, blood and cerebrospinal fluid (CSF) biomarkers. 30338062 2018
Entrez Id: 4036
Gene Symbol: LRP2
LRP2
0.100 Biomarker phenotype BEFREE Many publications showing improvement in motor symptoms and quality of life have been presented while there is little comprehensive research evaluation of the impact of DBS on mental state and psychiatric side-effects. 28320164 2017
Entrez Id: 4036
Gene Symbol: LRP2
LRP2
0.100 Biomarker phenotype BEFREE The whole group (n = 36) was assessed using motor, non-motor symptoms (sleep disturbances in particular) and quality of life measures (QoL), before surgery, 6 and 12 months after DBS programming. 30975618 2019
Entrez Id: 4036
Gene Symbol: LRP2
LRP2
0.100 Biomarker phenotype BEFREE However, little is known about the initial effects of STN-DBS on nonmotor domains.Our objective was to elucidate the initial effects of STN-DBS on non-motor and motor symptoms in PD patients in a 4-month follow-up.This open prospective study followed 24 patients with PD who underwent STN-DBS. 29384860 2018
Entrez Id: 4036
Gene Symbol: LRP2
LRP2
0.100 Biomarker phenotype BEFREE This study aims to investigate how the frequency settings of deep brain stimulation (DBS) targeting the subthalamic nucleus (STN) influence the motor symptoms of Parkinson's disease (PD). 30262859 2018
Entrez Id: 4036
Gene Symbol: LRP2
LRP2
0.100 Biomarker phenotype BEFREE Clinical trials have established subthalamic deep-brain-stimulation (STN-DBS) as a highly effective treatment for motor symptoms of Parkinson disease (PD), but in clinical practice outcomes are variable. 30839077 2019
Entrez Id: 4036
Gene Symbol: LRP2
LRP2
0.100 Biomarker phenotype BEFREE In the present review, we discuss the role of these new and emerging DBS targets in treating refractory axial motor symptoms and other motor and nonmotor symptoms (NMS). 28761773 2017
Entrez Id: 4036
Gene Symbol: LRP2
LRP2
0.100 Biomarker phenotype BEFREE Given that bilateral STN DBS is at least as effective as bilateral GPi DBS in treating motor symptoms of Parkinson's disease (as measured by improvements in UPDRS-III scores), consideration can be given to the selection of either target in patients undergoing surgery to treat motor symptoms.(Level I). 29538685 2018
Entrez Id: 4036
Gene Symbol: LRP2
LRP2
0.100 Biomarker phenotype BEFREE A dramatic improvement in motor symptoms was equally observed in both groups of patients after DBS. 31028845 2019