Whole Exome Sequencing (WES) identifies a TUBB4A Mutation in two Saudi siblings with hypomyelinating leukodystrophy associated with atrophy of basal ganglia and cerebellum.
Objective: To highlight the presentation of TUBB4A mutations. Background: Hypomyelinating leukodystrophy, identified in 2002 by magnetic resonance imaging is a rare heterogeneous group of diseases…Behavioral Changes on the UCSD Huntington’s Disease Behavioral Questionnaire (HD-BQ) Distinguish Patients Transitioning to Manifest Huntington’s disease (HD)
Objective: To utilize the UCSD Huntington's Disease Behavioral Questionnaire (HD-BQ) to assess behavioral changes that distinguish HD gene carriers transitioning to manifest HD. Background: Behavioral…A Descriptive Analysis of a Real-World Population With Huntington Disease-Associated Chorea (HDAC) Treated With Tetrabenazine: Findings From an Electronic Medical Records (EMR) Database
Objective: To examine clinical and treatment information about HDAC in patients (pts) prescribed tetrabenazine (TBZ). Background: Huntington disease is a hereditary movement disorder, with chorea…Parkinson ‘ s disease and Peripheral Nervous System : Wax and Waning Non-motor offs and Levodopa-use Topics
Objective: To relate the non-motor offs theory , sensory signs and levodopa use with neurophysiiology terms in PD Background: Peripheral Nervous System disease concept in…Serum soluble transferrin receptor levels correlate with the Hoehn & Yahr stage of Parkinson disease progression
Objective: To test whether levels of soluble transferrin receptor (sTfR) in the serum of Parkinson disease (PD) patients are correlated with the progression of the disease…New device HANABI (HANdai Amyloid Burst Inducer) is a rapid and sensitive detecting system of α synuclein fibril in CSF from Parkinson’s disease patients
Objective: Early diagnosis for PD is disturbed by the lack of sensitive and objective detection of accumulated αSyn in the patient’s brain. Recently, Real-Time Quaking-Induced…Objective identification of freezing of gait in Parkinson’s disease patients using a triaxial accelerometer
Objective: The aim of this study is to objectively detect and quantify freezing of gait (FOG) in Parkinson’s disease (PD) patients during everyday activities. Background:…Goal-Directed Movement in Idiopathic Parkinson’s Disease and the effect of Parkin Mutations
Objective: To investigate goal-directed behavior in people with Parkinson’s disease (with and without Parkin mutations) and healthy controls using a computer based task. Background: In…Development of nano-formulation containing crocetin for the protective and beneficial effect against 6-hydroxydopamine induced Parkinson’s disease model via altered the genetic backgrounds
Objective: Parkinson’s disease (PD) induced by the interaction between the number of factors viz., aging, genetics toxins, mitochondrial deformity and oxidative stress. Various evidences suggest…Genetic knock-down of HDAC4 attenuates rotenone-induced abnormal expression of α-synuclein by affecting autophagic flux in SH-SY5Y Cells
Objective: To assess whether histone deacetylase 4 (HDAC4) is related to the abnormal expression of α-synuclein (α-syn) via the autophagy pathway. Background: The overexpression and…
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