CCDC88C p.R464H likely cause a novel late-onset parkinsonism phenotype
Objective: We describe two sisters with late-onset parkinsonism associated with a CCDC88C variant (p.R464H). Background: Tsoi et al. (2014) identified a heterozygous missense mutation in the CCDC88C gene (R464H), by…Mutational effects of LRRK2 I1371V in astrocytes derived from patient specific iPSCs
Objective: To identify the LRRK2 I1371V mutational effects on astroglial biology involving glutamate metabolism and glutathione machinery. Background: The underlying cause of most of the familial…Cerebellar and other motor symptoms relationship with MRI features in Huntington disease.
Objective: To analyze the relationship between motor scales and brain magnetic resonance imaging (MRI) features in a cohort of Huntington disease (HD) patients. Background: Cerebellar…Diagnostic algorithm in recessive and sporadic early-onset ataxias
Objective: To develop a diagnostic algorithm that allows to differentiate recessive or sporadic ataxias by the clinical phenotype, biochemical markers and neuroimaging studies of the…Level of glial neurotrophic factor in the blood plasma depending on the duration of Parkinson’s disease
Objective: To study the level of glial neurotrophic factor in the blood plasma depending on the duration of PD. Background: Study of the biochemical aspects…Evaluation of α-synuclein pathology and function in dopaminergic neurons derived from LRRK2 I1371V PD patient iPSCs
Objective: To evaluate cellular pathogenesis in DA neuron function, and α-synuclein pathology using LRRK2-I1371V PD iPSC. Background: It is reported for complex-neurodegenerative disorders like PD,…Psychotherapy as a potential treatment for neuropsychiatric startle syndromes of Latah – a case report
Objective: Our report aims to discuss psychotherapy as a treatment modality for Latah. Background: Latah is a culture-specific startle syndrome (classically identified in Malaysian/Indonesian patients)…Alteration of the fecal microbiota in Turkish patients with idiopathic Parkinson’s disease
Objective: To determine whether the gut microbiota is altered in Turkish patients with Parkinson Disease (PD) and the potential effect of gut microbiota on pre-motor…Chorea Hyperglycemic Basal Ganglia syndrome(CHBG) with Diabetic Lumbosacral Radiculoplexus Neuropathy – A rare case presentation
Objective: To demonstrate that metabolic derangement can lead to choreiform movement disorder. Background: Hemichorea are involuntary, non-patterned movement disorders caused by lesions of the contralateral…Short and long-term Impact of Covid-19 Pandemic on motor and non-motor symptoms in Leucine-rich repeat kinase2 (LRRK2) associated Parkinson’s disease
Objective: To determine short and long-term impact of COVID-19 on motor(MS) and non-motor(NMS) symptoms among Tunisian PD patients according to Leucine-rich repeat kinase2 (LRRK2)-carrying status.…
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