Survival estimates for Spinocerebellar Ataxia type 2 based on age at onset and CAG repeats length
Objective: To obtain survival estimates for SCA2 patients based on the age at onset and CAG repeats length . Background: Spinocerebellar ataxia type 2 (SCA2)…Two heterozygous SNYE1 mutations presenting as spasmodic adductor dysphonia, task-specific jaw dystonia, generalized dystonia, and ataxia in a Jamaican man
Objective: Expanding the phenotype of SYNE1 mutations to include dystonia with ataxia. Background: In 2007 mutations in the SYNE1 gene were found to cause a…Clinical and molecular features of a Chinese family with spinocerebellar ataxia type 6
Objective: To evaluate the clinical manifestation, CAG repeats of abnormal alleles, mitochondrial function and treatment of spinocerebellar ataxia type 6To evaluate the clinical manifestation, CAG…Spinocerebellar degeneration in Minami-Boso area of Japan – A hospital-based retrospective analysis
Objective: Elucidate the present status of clinical practice for spinocerebellar degeneration (SCD) in Minami-Boso area to plan future direction for managing this intractable condition. Background:…PNKP deficiency mimicking a benign hereditary chorea: the misleading presentation of a neurodegenerative disorder
Objective: We report on a new case expanding the clinical presentation of PNKP deficiency Background: PNKP gene encodes for a kinase/phosphatase protein involved in DNA…An updated flow chart for the evaluation of chorea
Objective: The aim of this poster is to provide a tool to facilitate diagnosis of chorea. This flow chart has been presented at previous MDS…Mu opioid receptor agonism, not antagonism, for the treatment of L-DOPA-induced dyskinesia in Parkinson’s disease
Objective: To reappraise the role of the µ opioid receptor as a therapeutic target for L-DOPA-induced dyskinesia. Background: Parkinson’s disease (PD) is commonly treated with…Differential enhancement of ERK, PKA and Ca2+ signaling in direct and indirect striatal neurons of Parkinsonian mice
Objective: To identify cell-specific and dynamical modifications of signaling pathways associated with PD and drug-induced modifications Background: Parkinson's disease (PD) is characterized by severe locomotor…Factitious Disorder Imposed on Another mimicking a Dopamine Dysregulation Syndrome
Objective: To present a new type of Dopamine Dysregulation Syndrome in Parkinson's Disease. Background: Dopamine Dysregulation Syndrome (DDS) is a rare neuropsychiatric complication of Parkinson’s…Frequency of neuropsychiatric symptoms in non-demented early and late-onset Parkinson’s disease patients
Objective: To compare the frequency of neuropsychiatric symptoms (NPS) (depression, anxiety, psychotic, irritability, aggression, euphoria, apathy, behavioral disinhibition, repetitive motor behavior (RMB) and eating disorder)…
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