Feeding dystonia revealing Huntington’s disease, about a case
Objective: Feeding dystonia is rare disorder represented by Spontaneous tongue protrusion and lip bites, classically present during eating, resulting in throwing out food bolus (1).…Disorder of bulk lipid transfer? Lipid composition and distribution in cellular models of VPS13A disease
Objective: To study the overall lipid composition and distribution in red blood cells (RBCs) and neurons derived from VPS13A disease patients, a neurodegenerative disorder associated…Calcium phenotype in cellular models of VPS13A disease
Objective: Since the Membrane contact sites (MCS) between ER and mitochondria are of particular importance for cellular calcium homeostasis, we hypothesize that MCS dysfunction in…A rare case of Hyperkinetic Movement disorder
Objective: We present a case of hyperkinetic movement disorder in a 47 year old male with 3 year history of behavioural changes, chorea and dystonia…Bilateral Globus Pallidus interna Deep Brain Stimulation for the treatment of chorea-acanthocytosis: A case report from South Africa
Objective: We report on the efficacy of bilateral Globus pallidus interna deep brain stimulation as a treatment for Chorea-acanthocytosis (ChAc). Background: ChAc is an autosomal…Normal chorein protein signal on Western blot despite VPS13A mutations in VPS13A disease
Objective: Follow up on patients with strong clinical evidence on VPS13A disease, despite normal chorein band expression in Western blot. Background: VPS13A disease is a…The Impact of DBS on Chorea- Acanthoctosis: Case Report
Objective: Chorea-acanthocytosis (ChAc) is the most common subtype of neuroacanthocytosis syndrome, characterized by the presence of misshaped spiky red blood cells (acanthocytes) and associated neurological…Mcleod syndrome: Systematic review with meta-analysis
Objective: Analyze, review and describe the pathognomonic or characteristic signs and symptoms of Mcleod syndrome. Background: Mcleod syndrome is caused due to a mutation of…Chorea-acanthocytosis: Challenges in early diagnosis and excellent treatment response to Deep Brain Stimulation (DBS) – a case report
Objective: To describe diagnostic challenges and the response to DBS in a patient with genetically confirmed Chorea-acanthocytosis (ChAc). Background: At the age of 20 during…Case report: Chorea-acynthocytosis with two compoud heterozygous VPS13A large deletions
Objective: We report a 33 year old male patient without functional protein due to compound heterozygosity for VPS13A deletions and discuss the molecular diagnostic difficulties…
Abstracts from the International Congress of Parkinson’s and Movement Disorders.