Detecting unsuspected mitochondrial disease: an algorithmic approach
Objective: To present an algorithmic approach to the diagnosis of mitochondrial disease for clinical neurologists Background: Mitochondrial Encephalomyopathy, Lactic Acidosis, and Stroke-like episodes (MELAS Syndrome)…Looking “cherry red spot myoclonus” in the eyes
Objective: To describe eye movements in a cohort of patients affected with Sialidosis type 1. Background: Sialidosis, or Mucolipidosis type 1, is a rare autosomal…Neuropathology in a case of HD-like syndrome caused by mutations in RNF216
Objective: To describe the neuropathology in a rare case of autosomal recessive HD like syndrome due to homozygous RNF216 mutations. To confirm the hypothesis of…Different clinical entities of Segawa syndrome within a family
Objective: We report two cases of mother and daughter, both having different expressions of dystonic movements. Background: One of rare dystonic disorders is Segawa syndrome…Super-urgent liver transplantation for a 62 year old with Wilson’s disease presenting with acute liver failure
Objective: We describe an intriguing case of Wilson’s disease presenting with acute (fulminant) liver failure. Background: Wilson’s disease usually presents between the age of 5…The effect of ATP13A2/PARK9 levels on a-syn spreading in mice brains
Objective: The purpose of this study is to analyze the effect of ATP13A2/PARK9-mediated a-syn secretion on a-syn spreading in mice. Background: Recent studies with cell…HGprt deficient brain RNA expression patterns reveal specific abnormalities related to neuronal function in a mouse model of Lesch-Nyhan disease.
Objective: To determine the effect of hypoxanthine guanine phosphoribosyl transferase (HGprt) deficiency on mouse brain RNA expression patterns in multiple brain areas, during embryonic development…Acquired hepatocerebral degeneration treated with calcium disodium edetate chelation
Objective: To evaluate the efficacy of calcium disodium edetate (CaNa2EDTA) chelation as a treatment for acquired hepatocerebral degeneration. Background: Acquired hepatocerebral degeneration is a rare…MDS Rare Movement Disorders Study Group Global Genetic Testing Survey: exploring the unmet needs
Objective: To better understand access to genetic testing at the international level. Background: One of the objectives of the Rare Diseases Study Group (RDSG) of…HGprt deficiency affects early brain development in vivo in a mouse model of Lesch-Nyhan disease
Objective: To determine the effects of hypoxanthine guanine phosphoribosyl transferase (HGprt) deficiency on early brain development in vivo, in a HPRT1-deficient mouse model. Background: Lesch-Nyhan…
Abstracts from the International Congress of Parkinson’s and Movement Disorders.